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Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results
Abstract
Background/aims:
To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services.
Methods:
Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results.
Results:
Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%). Among disease risks, heart disease (68% very interested), breast cancer (67%), and Alzheimer disease (66%) were of greatest interest prior to testing. Interest in disease risks was associated with female gender and poorer self-reported health (p < 0.01). Many consumers (38%) did not consider the possibility of unwanted information before purchasing services; this group was more likely to be older, male, and less educated (p < 0.05). After receiving results, 59% of respondents said test information would influence management of their health; 2% reported regret about seeking testing and 1% reported harm from results.
Conclusion:
DTC-PGT has attracted controversy because of the health-related information it provides, but nonmedical information is of equal or greater interest to consumers. Although many consumers did not fully consider potential risks prior to testing, DTC-PGT was generally perceived as useful in informing future health decisions.
... [3] Second, the availability of direct-to-consumer (DTC) testing makes testing for APOE directly available to the public, increasing the potential that patients and families will bring test results to their clinicians for guidance to interpret the results. [7,8] And while there are previous studies on the use of DTC testing, the primary focus has been on the consumers' perspectives and their use of the information. [7] There is a gap in the literature understanding clinicians' perspectives on the use of this information for clinical or personal utility. ...
... [7,8] And while there are previous studies on the use of DTC testing, the primary focus has been on the consumers' perspectives and their use of the information. [7] There is a gap in the literature understanding clinicians' perspectives on the use of this information for clinical or personal utility. ...
... [19] In our study, geriatricians' reported a lack of clinical utility for DTC testing for AD were, consistent with their views on clinical genetic testing, while also recognizing the potential of personal utility of testing, and raised concerns about potential risks. [7,8,19,20] However, an additional challenge to DTC testing was counseling patients who bring test results to the clinic for help interpreting the results, and worried about the distress that unanticipated results may cause. This finding matches prior literature that suggests that patients are curious about their genetic background but worried about the distress that DTC testing for AD may cause, [20] uncertain about how to interpret results and with whom to share information, [21] and the accuracy of DTC testing results. ...
Background:
Research advancements in Alzheimer's disease (AD) raise opportunities for genetic testing to improve diagnostic and risk assessment. Despite emerging developments, it is unclear how geriatricians perceive the potential clinical and personal utility of genetic testing for their patients. Geriatricians' perspectives are essential to understanding potential ethical, policy, and clinical challenges.
Objective:
In this paper, we report on geriatricians' perspectives on the utility of genetic testing for AD.
Methods:
Semi-structured interviews with California geriatricians within different practices settings to collect and characterize their perspectives on genetic testing for AD. We used an adapted grounded theory approach to analyze recorded and transcribed interviews.
Results:
We identified geriatricians' (n = 10) perspectives on the clinical and personal utility of testing, alongside their views on clinical care approaches for older adults. Geriatricians perceived minimal clinical utility of genetic testing for AD, though that may change with the availability of disease-modifying therapies. Yet, they recognized the potential personal utility of testing (e.g., assisting with future financial planning). Finally, geriatricians expressed concerns regarding patients' anxiety from learning about genetic status, particularly through direct-to-consumer (DTC) testing.
Conclusion:
Our data highlight that the decision to order genetic testing requires clinical and ethical considerations, including balancing limited clinical utility with the potential personal utility. Although DTC testing is available, geriatricians perceive that they have an important role in managing the decision to test and interpreting the results. Further research is needed to inform policy and ethical guidelines to support geriatricians' critical role to counsel patients considering clinical and DTC genetic testing.
... Age in years at time of delivery, a median (range) 35 (23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) Age in years at time of interview, median (range) 37 (24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43) ...
... Age in years at time of delivery, a median (range) 35 (23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) Age in years at time of interview, median (range) 37 (24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43) ...
... As noted, many parents recalled surprise, shock, and worry at the time of diagnosis, though on the quantitative DRS most parents indicated low levels of regret about the testing decisions they made during pregnancy. These conflicting findings may indicate that there is room for improvement in the pre-test counseling or the methods of test result disclosure (these concerns were also identified in a study of mothers who expressed higher levels of regret regarding their decision to have NIPS.38 ) Or, perhaps over time and in retrospect, parents come to understand the benefits of earlier diagnosis, such as gaining actionable knowledge to improve their child's health.39 Three families in this study experienced missed opportunities for prenatal evaluation. ...
Objectives:
Prenatal diagnoses of differences of sex development (DSD) are increasing due to availability of cell-free DNA screening (cfDNA). This study explores first-hand experiences of parents whose children had prenatal findings of DSD.
Methods:
Eligible parents were identified through chart review at a pediatric center and interviewed about their prenatal evaluation, decision making, informational sources, and support systems. Interviews were coded using a combined inductive and deductive thematic analysis. Parents also completed quantitative measures of decisional regret.
Results:
Seventeen parents (13 mothers; 4 fathers) of 13 children (with 7 DSD diagnoses) were recruited. Four children had discordance between sex predicted by cfDNA versus prenatal ultrasound, and 2 had non-binary appearing (atypical) genitalia on prenatal ultrasound. Of these 6, 3 were not offered additional prenatal testing or counseling. Most parents described tension between obtaining support through disclosure of their child's diagnosis and preserving their child's autonomy/privacy, highlighting the need for mental health support.
Conclusion:
This is the first study to gather qualitative data from parents whose children had prenatal findings of DSD. We identified multiple targets for intervention to improve care for patients with DSD across the lifespan, including improvements in clinician education, pre- and post-test counseling, and patient education materials. This article is protected by copyright. All rights reserved.
... As genetic testing (GT) became increasingly available to the public, one of the questions that arose within the scientific community was: why should people be interested in undergoing GT [11][12][13]. The hypothesis and sometimes evidence, was that a negative test result could eliminate the need for unnecessary checkups and screening tests, and that a positive test result could help people make better informed decisions on how to manage their health. ...
... As regards factors influencing short-term reactions and changes, several studies have revealed that sociodemographic aspects, such as parenthood, the family or personal history of disease, life experiences, beliefs and individual characteristics (such as internal vs. external attribution of risk) affect the way people understand results and formulate decisions related to their health and risk [13,[18][19][20][21][22][23]. Individual differences in disease perceptions (seriousness and controllability) influence psychological outcomes following DTC-GT [24], even though, generally speaking, the psychological impact of the genetic test has been widely demonstrated not to be harmful [2,13,14,17]. ...
... As regards factors influencing short-term reactions and changes, several studies have revealed that sociodemographic aspects, such as parenthood, the family or personal history of disease, life experiences, beliefs and individual characteristics (such as internal vs. external attribution of risk) affect the way people understand results and formulate decisions related to their health and risk [13,[18][19][20][21][22][23]. Individual differences in disease perceptions (seriousness and controllability) influence psychological outcomes following DTC-GT [24], even though, generally speaking, the psychological impact of the genetic test has been widely demonstrated not to be harmful [2,13,14,17]. ...
Despite the widespread diffusion of direct-to-consumer genetic testing (GT), it is still unclear whether people who learn about their genetic susceptibility to a clinical condition change their behaviors, and the psychological factors involved. The aim of the present study is to investigate long-term changes in health-related choices, individual tendencies and risk attitudes in an Italian sample of GT users. In the context of the Mind the Risk study, which investigated a sample of Italian adults who underwent GT in a private laboratory, 99 clients participated in the follow up assessment. They completed a self-administered questionnaire investigating: (a) clinical history and motivation for testing, (b) lifestyle and risk behaviors, (c) individual tendencies toward health, and (d) risk-taking attitude and risk tolerance. Such variables were measured at three different time-points: T0-before GT, T1-at 6 months after genetic results, and T2-at 1 year from results. Results showed that, at baseline, participants who stated they intended to modify their behavior after GT results, effectively did so over time. This result held both for participants who received a positive or negative test result. In general, a healthier diet was the most frequently observed long-term behavioral change. As regards psychological variables, a risk-taking attitude and risk tolerance did not seem to affect the decision to change the lifestyle. Finally, we found an overall reduction in anxiety and worry over health over time, but also a reduction in the motivation for health promotion and prevention, health esteem, and positive expectations for their health in the future.
... The procedure is as easy as spitting into a designated testing tube and mailing it to a laboratory. Within weeks, consumers receive their genetic profile, usually without the mediation of health professionals (J. S. Roberts et al., 2017). Although DTC-GT kits have so far leveraged the ingredients for product longevity-utility, availability, and convenience (Jang, 2015)-increasing ethical and legal discussions by concerned experts, politicians, journalists, and others in the media contest their longevity (Rodriguez, 2018). ...
... Echoing more general worries about the safety of private digital data, pundits and consumers have expressed concerns over potential infringements to genetic data privacy (Rodriguez, 2018). Nearly four in every five DTC-GT kit consumers considered data privacy issues upon purchasing (J. S. Roberts et al., 2017), suggesting that consumer privacy is still a major concern for most. In addition to worries around the ability of companies to safely secure personal genetic data and avoid breeches, people also voiced a distrust in DTC-GT companies and worries that they will intentionally share data with third parties (Critchley et al., 2015). ...
... Previous studies found that disclosure does not lead to signi cant depression or anxiety symptoms in APOE-ε4 carriers in the short term, both in controlled research trials [24,25,48] and in direct-to-consumer testing [49]. Additionally, disclosing APOE genotype may have a positive impact in terms of health and lifestyle changes, even after being informed none of these changes were proven to prevent AD dementia [35,50]. ...
... Commercially available direct-to-consumer genetic screening tests including APOE genotype, have become more widely available and the interest among the general population in genetic susceptibly testing increases. [49,58,59]. With the current increase in interest in commercially available APOE-genetic screening tests [43], like 23andMe, and associated requests to explain genetic results [55], and growing demand of personalized dementia risk reduction [53], the need for accurate education about genetic risk and disclosure impact arises. ...
BACKGROUND
Apolipoprotein-E (APOE) genetic testing for Alzheimer’s disease is becoming more important as clinical trials are increasingly targeting individuals carrying APOEε4-alleles. Little is known about the interest in finding out ones genetic risk for Alzheimer’s disease in the general population. Our objective was to examine this in a sample of cognitively normal (CN) adults within a population-based online research registry with the goal to implement APOEε4 status for trial recruitment.
METHODS
An online survey was completed by 442 CN participants between the age of 49 and 75 years (56% female) from the Dutch Brain Research Registry. The survey assessed interest in participation in research into, and disclosure of, genetic risk for dementia. The survey assessed interest in participation in research into, and disclosure of, genetic risk for dementia, and the knowing their genetic risk in different hypothetical risk scenarios (10%, 30%, and 50% genetic risk for dementia at age 85, corresponding to APOEε2/ε2 or ε2/ε3, APOEε3/ε4 or ε2ε4, and APOEε4/ε4 genotypes). Cochran’s-Q and post-hoc McNemar tests were used to analyse differences in frequencies across scenarios.
RESULTS
Most participants were interested in participating in research into and disclosure of their genetic risk (81%). The most reported reason was to contribute to scientific research (94%). Interest was higher in males, while lower-educated participants were more often undecided. When provided with different risk scenario’s, interest in knowing their risk was somewhat higher in the scenarios with higher risk, i.e., in the 50% (79%) compared to the 10% scenario (73%;χ2(2) = 7.98; p = .005). Most individuals expected they would share their genetic risk with close relatives (77–89%), would participate in medication trials (79–88%), and would make long-term arrangements e.g. retirement, health care, will (69–82%), with larger proportions for scenarios with higher hypothetical genetic risk.
CONCLUSIONS
Our findings indicate that the vast majority of CN adults participating in an research registry expresses interest in AD genetic risk research and disclosure. Interest in genetic risk disclosure is higher in scenarios corresponding to the APOEε4-genotype. This suggests APOEε4-screening within an online research registry is potentially a well-received method to accelerate inclusion for trials.
... Test-seeking behaviour was associated with having an immediate relative with AD [63,64], self-efficacy beliefs, and beliefs in the existence of preventive health behaviours [65]. Among DTC genetic testing users, 65% felt more in control of their health after receiving the results, and 59% said that the results would have an influence on their health management [66]. However, 60% of individuals would feel more comfortable if the option to consult a genetic counsellor was given with genetic testing [67]. ...
... The studies examined clearly demonstrated the users' attitude in favour of face-to-face services rather than the online option. Genetic testing is perceived as an option to acquire additional knowledge of one's health, and therefore most users rely on the presence of healthcare professionals with specific expertise [65][66][67][68][69]. When the study protocols are focused on AD risk and prevention, although the majority of clinical research protocols are based in either geriatrics or neurology departments, study participants are basically enrolled from the community-dwelling population. ...
Alzheimer’s disease (AD) is a genetically complex disorder. In addition to the relatively small number of pathogenic variants causing autosomal dominant AD, many others have been associated with the much more common sporadic form. The E4 allele of the Apolipoprotein E (APOE) is the first discovered genetic risk factor for AD. In addition, more than 70 genetic risk loci contributing to AD have been identified. Current guidelines do not recommend AD susceptibility genetic testing in cognitively healthy adults because the implications for clinical care are limited. However, secondary prevention clinical trials of disease-modifying therapies enrol individuals based on genetic criteria, and participants are often informed of APOE testing results. Moreover, the availability of direct-to-consumer genetic testing allows individuals to learn their own AD genetic risk profile without medical supervision. A number of research protocols for AD susceptibility genetic testing have been proposed. In Italy, disclosure processes and protocols beyond those developed for inherited dementia have not been established yet. We reviewed the literature on the current practice and clinical issues related to disclosing AD genetic risk to cognitively healthy individuals and provide suggestions that may help to develop specific guidelines at the national level.
... Safety concerns of nonapproved LDTs and consumermarketed testing relate to false-positive and false-negative results because of analytic or interpretative error, incomplete genetic assessment, failure to communicate results or take medical action, and untoward psychosocial effects. [38][39][40][41][42] As documented in Appendix Table A3, online only, we and others have observed cases where we were unable to confirm results of consumer-initiated tests for cancer predisposition (eg, a case of Peutz-Jeghers syndrome), errant interpretation (eg, a patient with a CHEK2 mutation told that she could have Li-Fraumeni syndrome), and severe psychological sequelae because of absent counseling (eg, a 14-year-old offered testing by her parents for recreational purposes). Consumer risks may also result from pursuing inappropriate medical interventions on the basis of results of third-party raw genomic data interpretation companies, which are largely unvalidated (Appendix Table A3). ...
... 45 Adding to safety concerns, consumer-marketed genetic testing has been shown to be associated with failure to take follow-up action. 38,39,46 Only 27% of patients in one study shared their genetic results with primary care providers 38 ; this may lead to misinterpretation of genetic tests and false reassurance or undue anxiety. 43,44,[46][47][48][49] Finally, safety concerns also stem from limited FDA oversight and inconsistent reporting of metrics for clinical validity. ...
Cancer predictive or diagnostic assays, offered as Laboratory-Developed Tests (LDTs), have been subject to regulatory authority and enforcement discretion by the US Food and Drug Administration. Many LDTs enter the market without US Food and Drug Administration or any regulatory review. The Centers for Medicare & Medicaid Services under the Clinical Laboratory Improvement Amendments focuses on analytic performance, but has limited oversight of the quality or utility of LDTs, including whether patients have been harmed as a result of their use. Increasingly, LDTs for cancer risk or early detection have been marketed directly to consumers, with many LDT developers depicting these tests, requested by patients but ordered by personal or company-associated physicians, as procedures falling under the practice of medicine. This patchwork of regulation and enforcement uncertainty regarding LDTs and public concerns about accuracy of tests given emergency authorization during the COVID-19 pandemic led to the Verifying Accurate Leading-edge IVCT (in vitro clinical test) Development Act of 2021. This pending federal legislation represents an opportunity to harmonize regulatory policies and address growing concerns over quality, utility, and safety of LDTs for cancer genomics, including tests marketed directly to consumers. We review here questions regarding the potential benefits and harms of some cancer-related LDTs for cancer risk and presymptomatic molecular diagnosis, increasingly marketed to oncologists or directly to the worried well. We offer specific proposals to strengthen oversight of the accuracy and clinical utility of cancer genetic testing to ensure public safety.
... 22 But relatives who are found might have mixed feelings about being contacted, and the person searching for them might also experience a range of emotions and consequences as a result of those contacts. 23,24 A number of studies have considered psychosocial and behavioral impacts of learning health-related [25][26][27][28][29][30][31][32][33] and ancestry [34][35][36][37] information from DTC genetic testing and concerns associated with participating in DTC genetic testing for those purposes. Divulging and learning about misattributed parenthood in clinical settings is also discussed in the literature. ...
... This profile is generally consistent with the demographics of DTC genetic testing customers participating in other survey studies. 28,29 Further, the proportion of female respondents (52%) in our sample is in line with those other studies (46%-60%) although noticeably less than the sample of family history practitioners who participated in recent focus groups to share their genetic Column should be interpreted as follows: of the total number of respondents who made the relative identity discovery identified in first data column, n (%) reported that they attempted to contact that relative. Response to this item was not required. ...
In recent decades, genetic genealogy has become popular as a result of direct-to-consumer (DTC) genetic testing. Some DTC genetic testing companies offer genetic relative-finder (GRF) services that compare the DNA of consenting participants to identify genetic relatives among them and provide each participant a list of their relative matches. We surveyed a convenience sample of GRF service participants to understand the prevalence of discoveries and associated experiences. Almost half (46%) of the 23,196 respondents had participated in GRF services only for non-specific reasons that included interest in building family trees and general curiosity. However, most (82%) also learned the identity of at least one genetic relative. Separately, most respondents (61%) reported learning something new about themselves or their relatives, including potentially disruptive information such as that a person they believed to be their biological parent is in fact not or that they have a sibling they had not known about. Respondents generally reported that discovering this new information had a neutral or positive impact on their lives, and most had low regret regarding their decision to participate in GRF services. Yet some reported making life changes as a result of their discoveries. Compared to respondents making other types of discoveries, those who learned that they were donor conceived reported the highest decisional regret and represented the largest proportion reporting net-negative consequences for themselves. Our findings indicate that discoveries from GRF services may be common and that the consequences for individuals, while generally positive, can be far-reaching and complex.
... Data from a 2015 review seemed to confirm the perplexities expressed by some experts: they highlighted that people tended to be psychologically unprepared for genetic bad news and had negative emotional reactions after the results depending on the genetic test performed (Covolo et al., 2015). Other recent reviews concluded that evident negative impacts have not been found in the vast majority of the studied populations (Oliveri et al., 2018;Parens & Appelbaum, 2019;Roberts et al., 2017). In particular, Italian people tended to be confident in their ability to cope with genetic risk and tended to consider genetic tests as a valuable information to make important preventive decisions for themselves and their families (Oliveri et al., 2018), and overall GT outcomes resulted not to be harmful from a psychological point of view (Oliveri, Durosini, et al., 2020;Oliveri et al., , 2018. ...
... In the present study, and in line with previous studies (McGrath et al., 2019;Oliveri et al., 2021;Oliveri, Marton, et al., 2020;Roberts et al., 2017), the sample of Italian GT users was predominantly female, young adult, married, well-educated and without children. German GT users were divided fairly between men and women, with and without children, generally well-educated and predominantly married or in a stable relationship. ...
This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. Abstract Background: Rapid advances in genomic knowledge and widespread access to
... Data from a 2015 review seemed to confirm the perplexities expressed by some experts: they highlighted that people tended to be psychologically unprepared for genetic bad news and had negative emotional reactions after the results depending on the genetic test performed (Covolo et al., 2015). Other recent reviews concluded that evident negative impacts have not been found in the vast majority of the studied populations (Oliveri et al., 2018;Parens & Appelbaum, 2019;Roberts et al., 2017). In particular, Italian people tended to be confident in their ability to cope with genetic risk and tended to consider genetic tests as a valuable information to make important preventive decisions for themselves and their families (Oliveri et al., 2018), and overall GT outcomes resulted not to be harmful from a psychological point of view (Oliveri, Durosini, et al., 2020;Oliveri et al., , 2018. ...
... In the present study, and in line with previous studies (McGrath et al., 2019;Oliveri et al., 2021;Oliveri, Marton, et al., 2020;Roberts et al., 2017), the sample of Italian GT users was predominantly female, young adult, married, well-educated and without children. German GT users were divided fairly between men and women, with and without children, generally well-educated and predominantly married or in a stable relationship. ...
Rapid advances in genomic knowledge and widespread access to the web contributed to the development of genetic services by private companies or medical laboratories. In the European landscape, though, there is not a single coherent regulatory approach to genetic testing (GT). The study aimed to investigate differences and similarities between two populations of GT users, Italians, and Germans, in terms of health-related behaviors, psychological characteristics, and attitudes toward genetic information.
Ninety-nine Italian GT users from one private genetic company and 64 Germans GT users from one medical laboratory, completed an ad hoc self-administered questionnaire.
Results showed significant differences in health-related behaviors (unhealthy eating behaviors, smoking behaviors, and frequency in medical check-ups), with Germans reporting higher levels of unhealthy eating habits and smoking behaviors than Italians; Italian users also were more medically controlled. Furthermore, German participants were less willing to change their lifestyle following the GT results compared to Italian participants. Regarding psychological variables, German users felt more confident about their physical well-being and they seemed more motivated than Italians to avoid becoming unhealthy. Finally, two samples differed in the way they accessed genetic testing (with the Italians guided predominately by a physician in contrast with the Germans who were recommended by friends) and managed genetic testing results (with Italian participants significantly more willing to share results with doctors than German participants, who preferred sharing with the family).
The analysis of cultural and organizational differences could help in defining adequate guidelines for counseling, and provide inputs for regulators in different European contexts.
... Although several studies have investigated public attitudes toward DTC-GT, these inquires tended to focus on health-related information, addressing ancestry and kinship only in passing [23][24][25][26][27][28]. A small number of studies have examined the reactions of people who have undergone DTC-GT and received information about ancestry or biological relatives [27][28][29], including a few focusing on the experience of adoptees [30]. ...
... At that time, less than 20% of respondents were concerned about the validity of results or the policies and practices of DTC-GT companies and, on average, the respondents were ambivalent about any use by law enforcement. Other studies conducted during this period also addressed ancestry and kinship, albeit usually in passing [23][24][25]. ...
Direct-to-consumer genetic testing is marketed as a tool to uncover ancestry and kin. Recent studies of actual and potential users have demonstrated that individuals’ responses to the use of these tests for these purposes are complex, with privacy, disruptive consequences, potential for misuse, and secondary use by law enforcement cited as potential concerns. We conducted six focus groups with a diverse sample of participants (n = 62) who were aware of but had not used direct-to-consumer genetic tests, in an effort to understand more about what people considering these tests think about the potential value, risks, and benefits of such testing, taking into account use by third parties, such as potential kin and law enforcement. Participants differed widely in the perceived value of direct-to-consumer genetic tests for ancestry and kinship information for their own lives, including the desirability of contact with previously unknown relatives. Some perceived ancestry testing as mere curiosity or entertainment, while others, particularly those who had gaps in their family history, few living relatives, or who were adopted, saw greater value. Concerns about intrusion into one’s life by purported kin and control of data were widespread, with many participants expressing concern about secondary uses of data that could harm users or their families. The use of direct-to-consumer genetic tests data for forensic genealogy elicited a particularly wide array of reactions, both spontaneously and in response to specific discussion prompts, mirroring the current public debate about law enforcement access to such data. The themes uncovered through our investigation warrant specific attention in the continued development of the science, policy, and practice of commercial direct-to-consumer genetic testing.
... Specifically, participants reported being "very interested" in learning about their risk for heart disease (67.8%), breast cancer (66.9%; women only), Alzheimer's disease (66.3%), prostate cancer (59.9%; men only), skin cancer (59.4%), diabetes (55.3%), and colon cancer (52.7%). 22 There were some limitations in our study, the small scale of the study sample and geographical distribution, and that it only focused on medical students and not involving public or non-medical participants, however, it also carries a promising direction for bigger national scale studies across Saudi aiming to increase awareness of the importance of gene testing for better and healthier community. ...
Background: Genetic testing is a growing field that can provide valuable information about an individual's health, ancestry, and potential risks for various health conditions. While some people are aware of its potential benefits, others have concerns about the privacy of their genetic data, limitations of the testing, ethical issues, and disparities in access to testing and interpretation services. While genetic testing has the potential to provide valuable information, there are valid concerns about privacy, accuracy, and ethical issues. The public's attitudes toward genetic testing is shaped by various factors, including accessibility, cost, accuracy, and reliability of the testing and ethical and privacy concerns. A survey-based methodology was used to investigate the attitudes and awareness of the public toward genetic testing and identify the factors that influence these attitudes and awareness. Our study aimed to study the attitude and awareness of Saudi medical and non-medical students toward gene testing across different Universities in Al Madinah, Saudi Arabia. Methods: A cross-sectional study was conducted on 274 participants. The data were analyzed descriptively using statistical package for the social sciences (SPSS). Results: Across the 274 participants, the majority have agreed on the importance of gene studying especially in facilitating the marriage process and assuring healthier generations, while there was also a concern about the security and confidentiality of gene mapping and banking, screening for cancer, and cardiac disorder were on top of interest among the participants to use gene screening in. Conclusions: In conclusion, genetic testing is essential for diagnosing genetic diseases, but predictive genetic tests have limited benefits due to gene-environment interactions. Advances in genome technologies have produced large amounts of sensitive genetic data. Genetic education is necessary to promote informed decision-making, reduce genetic essentialism, and improve genomics literacy. Most study participants acknowledged the significance of genetic disorder screening before marriage to improve their health and their offspring's health.
... The possibility of anxiety and depression following experiencing negative test results with little follow-up support is significant. In a study completed, 38% reported they did not consider the possibility of receiving information regarding ill health [11]. Results indicating increased risk for depression left those consumers with feelings of decreased ability to regulate their mood [12]. ...
Direct-to-consumer genetic testing (DTC-GT) is becoming an increasingly profitable private enterprise that provides genetic testing kits directly to consumers. DTC-GT companies advertise themselves as a method for patients to take control of their own health and investigate their risk of diseases and conditions as well as look into their ancestry. The scope of practice of these companies continues to widen offering more services. Consumers may therefore have a relatively poor understanding of the services provided when purchasing these products. The testing methods utilised show some limitations, the consequences of which have the possibility of leading to harm to consumers. The result of the data gathered may instigate the formation of negative stereotypes from the public and reinforce existing ones towards a population that may have already been previously subjugated to unfair treatment. The controversy surrounding how data are utilised further impacts how many may engage in its use. This review aims to provide an overview of the services these companies purport to provide as well as highlight important ethical issues of the service such as quality of information, privacy concerns, negative psychosocial impact and the effect on clinical practice.
... Raised awareness of genetic risk was expected to motivate health-related behavior change [2]. However, despite evidence that people seek genetic testing in order to make health and lifestyle changes [3,4], receiving genetic test results does not always result in behavior change [5][6][7]. The discrepancy between pre-test motivations and post-test behaviors may in part be explained by the difficulties, both for the client and the health professional, in changing health behavior [8]. ...
Genetic testing does not always change health behavior. Effective behavior change requires a theory-driven coordinated set of activities (behavior change techniques). Genetic counselors are ideally positioned to facilitate behavior change. We aimed to explore genetic counselors’ perceptions of their role in supporting clients’ behavior change to inform the design of an intervention. Recruitment was via a professional organization and genetics services. Data were collected from 26 genetic counselors via qualitative focus groups/interview. Transcripts were analyzed using thematic analysis and mapped to the COM-B model. We identified three behaviors genetic counselors wanted clients to change: attend appointments, access information, and share information with family members. Strategies for changing clients’ behavior included: assessing needs and capabilities, providing information and support, enabling and monitoring behavior change. Barriers included lack of behavior change skills and knowledge, lack of time, and beliefs about ownership of healthcare, directiveness of behavior change, and scope of practice. Equipping genetic counselors to deliver behavior change requires (i) education in behavior change theory and behavior change techniques, (ii) integration of capability, opportunity and motivation assessment into existing practice, and (iii) development of evidence-based strategies using behavior change tools to focus discussions and promote clients’ agency to change their behavior.
... Consumer use of DTC genetic services to learn an animal's background may mirror human DTC-GT use in which previous research reported adult adoptees used these tests to learn their "race" and "search for biological family" [12]. Another study revealed consumers also used their results to learn missing heritage information such as withheld knowledge about biological relatives (e.g., sealed adoption records) [23]. While test use to locate canine relatives was not a major motivator in our sample, this use was detected. ...
Direct-to-consumer genetic services allow companion animal guardians to purchase a DNA test and receive detailed results about their pet’s ancestry, health, and traits results. In collaboration with Wisdom Panel, we present novel findings about consumer motivations, perceptions, and responses to their use of canine genomic services. Wisdom Panel customers were invited to complete an online survey anonymously in which they were asked about their reasons for using a genetic test for their dog, how they perceived the test’s results, and how they responded to the results they received. Participant data revealed most utilized a test that provided more ancestry/breed results (75.9%) as compared to health-related results. The majority of participants perceived the breed test results as accurate (52.0% strongly agree, 27.6% somewhat agree) and the genetic services provided as having great value (49.6% strongly agree, 32.7% somewhat agreed). In responding to their dog’s results, participants indicated they shared the information with family (88.1%) and friends (84.2%). Collectively, our study indicates consumers are more focused on their dog’s ancestry than other test results. Using these findings and previous literature on human direct-to-consumer genetic testing, human–animal dyads, and identity construction, we consider the possibility of “breed options theory” and future areas of research.
... It is crucial that undergraduate students have an accurate understanding of multifactorial genetics for several reasons, including that advances in technology have led to the opportunity for them to become consumers of genetic information, data, and resources (5). For example, they can purchase DNA sequencing services to learn about ancestry, discover relatives, and learn about health risks (7)(8)(9). Genetics has also become a more prominent topic in the world news and social media, with these resources often acting as the primary source for public understanding of genetics (10)(11)(12)(13)(14)(15). The COVID-19 pandemic is the most recent example of this, with these sources providing information about the intersection of genetics and personal susceptibility to contracting the virus (16,17). ...
Undergraduate genetics courses have historically focused on simple genetic models, rather than taking a more multifactorial approach where students explore how traits are influenced by a combination of genes, the environment, and gene-by-environment interactions. While a focus on simple genetic models can provide straightforward examples to promote student learning, they do not match the current scientific understanding and can result in deterministic thinking among students. In addition, undergraduates are often interested in complex human traits that are influenced by the environment, and national curriculum standards include learning objectives that focus on multifactorial concepts. This research aims to discover to what extent multifactorial genetics is currently being assessed in undergraduate genetics courses. To address this, we analyzed over 1,000 assessment questions from a commonly used undergraduate genetics textbook; published concept assessments; and open-source, peer-reviewed curriculum materials. Our findings show that current genetics assessment questions overwhelmingly emphasize the impact of genes on phenotypes and that the effect of the environment is rarely addressed. These results indicate a need for the inclusion of more multifactorial genetics concepts, and we suggest ways to introduce them into undergraduate courses.
... In their study of interpreting other's genetic ancestry results, Bobkowski, Watson, and Aromona (2020) found that individuals initially perceive results as intuitive, but the closer they read and/or attempted to decipher meanings of percentages, concepts, groupings, and scientific explanations, the more confused and doubtful of the results' accuracy they become. Previous research has examined the marketing of the tests (Scodari 2017;Elliott 2020;Bliss 2013), the impact of tests on test-takers' perception of identity (Phelan et al. 2014;Roth 2018;Bliss 2013;Panofsky and Donovan 2019;Scully, Brown, and King 2016;Kramer 2015;Shim, Alam, and Aouizerat 2018;Williams et al. 2021;Bobkowski, Watson, and Aromona 2020;Gregory 2019), as well as motivations for engaging with GATs (Roth et al. 2020;Roberts et al. 2017). A few studies have engaged specifically with the results material provided by the GATs companies, however, these tend to focus on mDNA/YDNA (following the migration of maternal/ paternal line respectively) and the consumer's use of, or lack thereof result documents, and the online chat forum (El-Haj 2012;Ruckenstein 2017). ...
History can be described as a story, or narrative reporting on past events to create meaning and explanation for the present/future. Narratives of genetic history are presented in the genetic ancestry testing (GAT) results specifically maps, percentages, and related information to consumers expecting “answers” related to identity and belonging. Engaging in thematic narrative analysis I ask how GAT results’ narratives use ethnicity/race/nationality to categorize sameness/difference and what these narratives inform about group boundaries through the comparison of online result materials received from four GAT companies: 23andMe, Ancestry, MyHeritage, and FamilyTreeDNA. These results are presented as an in-between space where bio-historic-cultural contents are negotiated with previous knowledge/experiences. This study found results narrate dichotomies of “self” and others, individual and collective, personal and private, and the present and the historical, and serves to highlight problematic perceptions of genetics history as an essential/unchanging product, reducing and ignoring diversity within and moving between groups.
... Direct-to-Consumer testing has increased in the last five years 27 and patients are presenting results primarily to their PCPs for additional guidance and decision-making. 28 Because the majority of these DTC genetic testing companies do not require complete pre-and post-test genetic counseling, many individuals pursue testing without full understanding of potential implications, 7 leaving the bulk of this counseling to be done after receiving results, if at all. ...
The field of genetics has evolved rapidly over the last few decades, from testing methods to genetic diagnoses, bringing new genetic testing guidelines and considerations for health care providers. Overall geneticists are limited in number and availability, particularly in non-academic settings, and many patients first present to a primary care provider. Here, we aim to review various modalities of genetic testing, their indications, limitations, and other pretest considerations for the primary care provider. In addition, we comment on the limitations of direct-to-consumer (DTC) genetic testing, which has seen a rise in popularity among the general population.
... One common motivation is to seek information about their health and disease risk, generally coupled with desire to reduce these risks through behavioral interventions (Bloss et al., 2011). More recent work (Roberts et al., 2017) found that users were just as interested in ancestry and trait information as they were in disease risks. DTC-GT is frequently used by adult adoptees to search for their family of origin, to verify their ethnicity, or to learn about their own health history (Lee et al., 2020). ...
Proceedings of the ETHICOMP 2022
Conference was held in Turku, Finland, July 26-28, 2022.
... Considering health care-related social media studies as an example, Liu et al [26] analyzed the association between weight loss progress and Reddit users' online interactions; Klein et al [27] relied upon Twitter data to identify potential cases of COVID-19 in the United States; and Ni et al [28] compared the attitudes of users of 4 different social platforms toward the "gene-edited babies" event. For DTC-GT, most investigations have focused on consumer motivations [29], health implications [30], and ethical implications [31], with only a handful considering the disclosure of test reports over social platforms [8,32,33]. Most previous studies that used social media data focused solely on mining knowledge from text. ...
Background
As direct-to-consumer genetic testing services have grown in popularity, the public has increasingly relied upon online forums to discuss and share their test results. Initially, users did so anonymously, but more recently, they have included face images when discussing their results. Various studies have shown that sharing images on social media tends to elicit more replies. However, users who do this forgo their privacy. When these images truthfully represent a user, they have the potential to disclose that user’s identity.
Objective
This study investigates the face image sharing behavior of direct-to-consumer genetic testing users in an online environment to determine if there exists an association between face image sharing and the attention received from other users.
Methods
This study focused on r/23andme, a subreddit dedicated to discussing direct-to-consumer genetic testing results and their implications. We applied natural language processing to infer the themes associated with posts that included a face image. We applied a regression analysis to characterize the association between the attention that a post received, in terms of the number of comments, the karma score (defined as the number of upvotes minus the number of downvotes), and whether the post contained a face image.
Results
We collected over 15,000 posts from the r/23andme subreddit, published between 2012 and 2020. Face image posting began in late 2019 and grew rapidly, with over 800 individuals revealing their faces by early 2020. The topics in posts including a face were primarily about sharing, discussing ancestry composition, or sharing family reunion photos with relatives discovered via direct-to-consumer genetic testing. On average, posts including a face image received 60% (5/8) more comments and had karma scores 2.4 times higher than other posts.
Conclusions
Direct-to-consumer genetic testing consumers in the r/23andme subreddit are increasingly posting face images and testing reports on social platforms. The association between face image posting and a greater level of attention suggests that people are forgoing their privacy in exchange for attention from others. To mitigate this risk, platform organizers and moderators could inform users about the risk of posting face images in a direct, explicit manner to make it clear that their privacy may be compromised if personal images are shared.
... Consumers' perceived value embodies the difference between the perceived worth of a good and its actual price (Sweeney and Soutar, 2001;Roberts et al., 2017). After perceiving the value of a product or service, a person's subjective evaluation of its value minus the cost paid represents the consumer perception effect (Yu and Lee, 2019). ...
Counterfactual thinking is presumed to play a preparatory function in promoting people’s behavioural intentions. This study specifically addresses the impacts of COVID-19 severity, tourists’ counterfactual thinking about the pandemic, and tourists’ perceived duty-free consumption value on the effect of a duty-free policy on travel intentions. Four hundred and ten participants took part in this study, which involved a 2 (duty-free policy: absent vs. present) × 2 (COVID-19 severity: high vs. low) design. Results reveal the following patterns: (a) compared to the absence of a duty-free policy in tourist destinations, enactment of a duty-free policy leads to stronger visit intentions through greater perceived value and (b) the effect of a duty-free policy on travel intention is moderated by tourists’ counterfactual thinking and COVID-19 severity.
... Most participants expressed interest in obtaining clinical PRS, which is similar to previous reports involving preventive genomic testing. [11][12][13][14] Interest stemmed mainly from the potential to gain health-related knowledge, mitigate disease risk, and provide information for family members and was influenced by family health history and trust in medical science. Table 2 for details on themes and subthemes relating to interest. ...
Purpose
As polygenic risk scores (PRS) emerge as promising tools to inform clinical care, there is a pressing need for patient-centered evidence to guide their implementation, particularly in diverse populations. Here, we conducted in-depth interviews of diverse Spanish- and English-speaking patients to explore their perspectives on clinical PRS.
Methods
We enrolled 30 biobank participants aged 35-50 years through a purposive sampling strategy, ensuring that >75% self-reported as African/African American or Hispanic/Latinx and half were Spanish-speaking. Semistructured interviews in Spanish or English explored attitudes toward PRS, barriers to adoption, and communication preferences. Data were analyzed using an inductive thematic analysis approach.
Results
Perceived utility of clinical PRS focused on the potential for personal health benefits, and most participants stated that high-risk results would prompt physician consultations and health behavior changes. There was little concern among participants about the limited predictive power of PRS for non-European populations. Barriers to uptake of PRS testing and adoption of PRS-related recommendations included socioeconomic factors, insurance status, race, ethnicity, language, and inadequate understanding of PRS. Participants favored in-person PRS result disclosure by their physician.
Conclusion
Findings provide valuable insight into diverse patients’ attitudes and potential barriers related to clinical PRS, guiding future research and patient-centered clinical implementation.
... Eleven publications have explored the attitudes and experiences of the Canadian or American public with mixed results (Baptista et al. 2016;Bollinger et al. 2013;Francke et al. 2013;Gollust et al. 2017;Gray et al. 2012;Koeller et al. 2017;Landry et al. 2017;Nielsen et al. 2014;Roberts et al. 2017;Van Der Wouden et al. 2016;Wasson et al. 2013). Most who have undergone DTC genetic testing support the consumer-driven model of access, and many consider that genetic tests should be more widely available, such as in drugstores (Gollust et al. 2017). ...
Direct-to-consumer (DTC) genetic testing exists largely outside of any regulatory schemes, and studies providing a comprehensive overview of the ethical, social, legal, and technological considerations for regulating these types of technologies are lacking. This paper uses the 3-I framework for policy analysis to analyze the ideas, interests, and institutions relevant to policy development for DTC genetic testing in North America and internationally. A scoping review was conducted. Citation databases were searched for papers addressing the ethical, social, legal, and technological implications of DTC genetic testing; stakeholder perspectives on and experiences with DTC genetic testing; or the effect of such testing on the healthcare system. Ninety-nine publications, organizational reports, governmental documents, or pieces of legislation were included. The ideas included are autonomy, informed decision making, privacy, and clinical validity and utility. The interests discussed are those of the public and healthcare providers. The institutions included are regulatory organizations such as the Food and Drug Administration in the United States, laws governing the implementation or delivery of genetic testing in general, and legislation created to protect against genetic discrimination. This analysis clarifies the ethical, social, legal, and technological issues of DTC genetic testing regulation. This information can be used by policy makers to develop or strengthen regulations for DTC genetic testing such as requiring an assessment of the clinical validity of tests before they become publicly available, controlling how tests are marketed, and stipulating requirements for healthcare provider involvement and informed consent.
... A literature review was performed for research papers that assessed attitudes and perceptions of the general public toward genetic testing and genome projects, targeting standard databases using keywords: "attitudes", "perception", "concerns", "public", "society", "genetic testing", "biodata sharing", "genomics" and "genomic data. " Thirteen articles published from 2009 to 2019 were selected [13][14][15][16][17][18][19][20][26][27][28][29][30] from which survey questions were assessed and compiled into a question bank and categorized according to themes of "sociological factors", "literacy", "perceptions", "privacy concern" and "governance", and paraphrased appropriately to suit the Singaporean context. Additional questions specific to COVID-19 and racial discrimination were also synthesized to explore beliefs about the relationships between COVID-19 and ethnic diversity. ...
Background
As a consequence of precision medicine initiatives, genomic technologies have rapidly spread around the world, raising questions about genetic privacy and the ethics of data sharing. Previous scholarship in bioethics and science and technology studies has made clear that different nations have varying expectations about trust, transparency, and public reason in relation to emerging technologies and their governance. The key aims of this article are to assess genetic literacy, perceptions of genetic testing, privacy concerns, and governing norms amongst the Singapore population by collecting surveys.
Methods
This study investigated genetic literacy and broad public attitudes toward genetic tests in Singapore with an online public survey (n = 560). To assess potential changes in attitudes following receipt of results from a genetic test, we also surveyed undergraduate students who underwent a genetic screen as part of a university class before and after they received their test results (n = 25).
Results
Public participants showed broad support for the use of genetic tests; scored an average of 48.9% in genetic literacy; and expressed privacy concerns over data sharing and a desire for control over their genetic data. After taking a genetic test and receiving genetic test results, students reported less fear of genetic tests while other attitudes did not change significantly.
Conclusion
These findings highlight the potential of genetic education and active engagement with genetic testing to increase support and participation in genomic projects, PM, and biobanking initiatives; and they suggest that data privacy protections could potentially reduce discrimination by giving participants control over who can access their data. More specifically, these findings and the dataset we provide may be helpful in formulating culturally sensitive education programs and regulations concerning genomic technologies and data privacy.
... Despite the usefulness and popularity of DTC-GT, consumers should be aware of the potential risks and limitations of DTC-GT [17]. The genetic variations included in DTC-GT may facilitate the estimation of phenotypic traits; however, many conditions are affected by the interplay of various factors including genetic, lifestyle, and environmental factors. ...
Direct-to-consumer genetic testing (DTC-GT) provides a means for consumers to gain insights into their genetic background and how it relates to their health without the involvement of medical institutions. In Korea, DTC-GT was introduced in 2016 in accordance with the legislation on Paragraph (3) 2 of Article 50 of the Bioethics and Safety Act. Only 12 genetic test items involving 46 genes were approved at first, but the approved items were expanded to 70 in November 2020. However, the genetic test items of DTC-GT services in Korea are still restricted to the wellness area, and access to disease risk related information is only permitted to medical institutions. Further, studies revealing the relationship between genotype differences and responses to nutrients, food components, or nutritional status are increasing, and this association appears to be robust for some genes. This strong association between genetic variations and nutrition suggests that DTC-GT can be used as an important tool by clinical nutritionists to gain insights into an individual's genetic susceptibilities and provide guidance on nutritional counseling and meal planning based on the patient's genetic information. This review summarized the history and current status of DTC-GT and investigated the relationship between genetic variations with associated phenotypic traits to clarify further the importance of DTC-GT in the field of clinical nutrition.
... Evidence suggests that both race and ethnicity influence access to genetic testing (Alford et al. 2011;Kaphingst et al. 2015). Related literature has shown that genetic testing rates and representation are higher for those who are White with higher socioeconomic status and education levels, those who have insurance coverage, and those with a higher level of health literacy (Bloss et al. 2010;Dean and Fisher 2019;Roberts et al. 2017;Sirugo et al. 2019). Documented barriers to genetic testing are limited awareness of genetic testing among those from minority racial and ethnic groups, including those who are Asian, Hispanic, and African American, as well as those with lower annual household income, lower levels of education, and limited health insurance (Mai et al. 2014). ...
Genetic testing is becoming an integral part of healthcare, but evidence suggests that both race and ethnicity influence access to and utilization of genetic testing. Given this barrier, data are needed on the perceptions of genetic testing in racial and ethnic minority groups. The purpose of this study was to explore the perceptions of three types of genetic testing (genetic testing for adult-onset conditions, prenatal screening, and newborn screening) in a sample of US participants who identified as White, Pacific Islander, and Latinx (10 dyads from each group for 60 participants total). Data were collected through semi-structured dyadic interviews and assessed using thematic analysis. The major themes were knowledge as empowering, knowledge as stressful, and predictive nature of prenatal testing and newborn screening. Some differences were seen in themes by race and ethnicity. A sense of collective and familial health appeared to be a more important theme for Pacific Islander and Latinx participants compared to White participants. Adult-onset genetic testing was viewed variously across all groups with some noting how it may increase anxiety, particularly if the disease screened for was unable to be prevented with action. All three groups reported on the positives of prenatal testing and newborn screening yet often were confused on the differences between them. This study presents novel perceptions of genetic testing in participants from diverse communities across three types of genetic testing. Genetic healthcare providers should incorporate participants’ perceptions, values, and beliefs into their counseling delivery as a way to engage with diverse communities.
... Molecular genetic testing for heritable genetic variants (i.e., germline testing) is important to decision-making across all medical specialties, and increasingly individuals are using this genetic information to inform their health, reproductive, and life planning decisions. [1][2][3][4] Germline testing and the laboratories that perform this testing have undergone considerable change in the past several decades due in large part to technological innovations, regulatory requirements, and the 2013 United States Supreme Court ruling invalidating gene patents. [5][6][7][8][9][10][11] Laboratories that offer germline testing are a heterogeneous group. ...
Purpose
Germline testing laboratories have evolved over several decades. We describe laboratory business models and practices and explore their implications on germline testing availability and access.
Methods
We conducted semistructured interviews with key informants using purposive sampling. We interviewed 13 key informants representing 14 laboratories. We used triangulation and iterative data analysis to identify topics concerning laboratory business models and practices.
Results
We characterized laboratories as full-service (FSL), for-profit germline (PGL), and not-for-profit germline (NGL). Relying on existing payer contracts is a key characteristic of the FSL business models. FSLs focus on high-volume germline tests with evidence of clinical utility that have reimbursable codes. In comparison, a key business model characteristic of PGLs is direct patient billing facilitated by commodity-based pricing made possible by investors and industry partnerships. Client billing is a key business model characteristic of NGLs. Because many NGLs exist within academic settings, they are challenged by their inability to optimize laboratory processes and billing practices.
Conclusion
Continued availability of, and access to germline testing will depend on the financial success of laboratories; organizational characteristics of laboratories and payers; cultural factors, particularly consumer interest and trust; and societal factors, such as regulation and laws surrounding pricing and reimbursement.
... [10] -Based on the test's results (if testing revealed an elevated risk in comparison to the general population), do you think that [26][27][28] o you would change your lifestyle [18]? p you would like your GP to change your health management? ...
Background
Direct-to-consumer genetic testing (DTCGT) offers individuals access to information on their probable risks of suffering from a wide range of chronic diseases. General practitioners (GPs) will probably play a major role in supporting its use, but patients’ perception of DTCGT remain unclear. This study aimed to describe those attitudes and expectations and how they might affect GPs’ daily practices.
Methods
In 2018–2019, a study related to the use of DTCGT for preventive care in general medicine was conducted among patients in Switzerland’s French-speaking areas. Data were collected in the waiting room using a self-administrated questionnaire about patients’ interest in DTCGT and what their attitudes might be if testing revealed an elevated risk of diabetes, colorectal cancer, or Alzheimer’s disease.
Results
About 40% of the 929 participating (participation rate about 80%) patients had heard about DTCGT and, once the test had been explained, 43% reported that they would be interested in being tested. If that testing suggested an elevated risk of disease, the majority of patients reported that they would change their lifestyle (65%–81%, depending on the disease), request more examinations (63%–77%), and expect changes in their GP’s follow-up (48%–59%). Personal characteristics such as sex, age, urbanity, marital status, and perceived health were factors predictive of patients’ attitudes.
Conclusion
Findings indicated that the generalization of DTCGT might affect GPs’ daily practices in terms of workload and knowledge about this approach. However, this result must be qualified by the fact that it is based on hypothetical situations.
... In a recent qualitative study, Best et al. [16] concluded that pinpointing areas of discrepancies or cohesions among stakeholders will guide in meeting their needs. The literature review carried out by Roberts et al. [41] identified the role of stakeholders as a prospect for implementing genomic medicine. ...
Background and aim:
Mapping the power, interest, and stance of stakeholders is a cornerstone for genomic medicine implementation. In this study, we aimed at mapping the power/interest of various stakeholders in United Arab Emirates (UAE) and exploring their attitudes toward pressing health genomics aspects. The overarching aim of this study is to facilitate the construction of a road map for the full implementation of genomic medicine and pharmacogenomics in the UAE with potential applicability to many healthcare systems around the world.
Methods:
A qualitative approach using in-depth interview was employed. Heterogeneous stakeholders were identified by experts in the field. The analysis of the data was a hybrid of deductive and inductive approach using NVivo software for coding and analysis.
Results:
13 interviews were conducted. Following mapping the Mendelow's matrix, we categorized the stakeholders in UAE to promoter, latent, defender, and apathetic. Most of the interviewed stakeholders emphasized the clinical demand for genomic medicine in UAE. However, many of them were less inclined to articulate the need for pharmacogenomics at the moment. The majority of stakeholders in UAE were in favor of building infrastructure for better genetic services in the country. Stakeholder from an insurance sector had contradicting stance about the cost-effectiveness of genomic medicine; the majority were concerned with the legal and ethical aspects of genomic medicine and had an opposing stance on direct-to-consumer kits.
Conclusions:
Implementing the Mendelow's model will allow the systematic strategy for implementing genomic medicine in UAE. This can be achieved by engaging the key players (promoters and defenders) as well as engaging and satisfying the latent stakeholder.
Purpose:
With advances in genome sequencing technologies, large-scale genome-wide sequencing has advanced our understanding of disease risk and etiology and contributes to the rapidly expanding genomic health services in pediatric settings. Because it is possible to return ancestry estimates following clinical genomic sequencing, it is important to understand the interest in ancestry results among families who may have the option of receiving these results.
Methods:
We conducted 26 semi-structured qualitative telephone interviews of parents with children/newborns with likely genetic conditions from two studies of clinical genome sequencing. Using a purposive sampling approach, we selected parents from the SouthSeq cohort, Clinical Sequencing Evidence-Generating Research (CSER Phase 2) project active in Alabama, Mississippi, and Louisiana, or an earlier Clinical Sequencing Exploratory Research (CSER Phase 1) initiative based in the same region. Our interviews focused on parental knowledge about, attitudes on, interest in, and preferences for receiving genetic ancestry results following clinical genome sequencing in the neonatal intensive care unit or in pediatric clinics.
Findings:
Overall, parents prioritized clinical results or results that would help guide the diagnosis and treatment of their child, but they were also interested in any genetic result, including genetic ancestry, that potentially could enhance the meaning of information on disease risk, prevention and screening guidance, or family planning. While parents thought that ancestry results would help them learn about themselves and their heritage, the had concerns over the privacy, security, and accuracy of genetic ancestry information, although parents indicated that they had greater trust in ancestry findings provided as part of clinical care compared with those offered commercially. Parents also wanted ancestry results to be returned in a timely manner by knowledgeable staff, with kid-friendly materials and online tools available to aid, as needed, in the understanding of their results.
Implications:
Taken together, our results highlight that despite being in high-stress situations, such as having a newborn in the neonatal intensive care unit, parents were interested in receiving genetic ancestry results along with their clinically relevant findings.
Importance:
The expansion of genetic and genomic testing in health care has led to recognition that these tests provide personal as well as clinical utility to patients and families. However, available systematic reviews on this topic have not reported the demographic backgrounds of participants in studies of personal utility, leaving generalizability unclear.
Objective:
To determine the demographic characteristics of participants in studies examining the personal utility of genetic and genomic testing in health care.
Evidence review:
For this systematic review, we utilized and updated the results of a highly cited 2017 systematic review on the personal utility of genetics and genomics, which identified relevant articles published between January 1, 2003, and August 4, 2016. We also used the original methods to update this bibliography with literature published subsequently up to January 1, 2022. Studies were screened for eligibility by 2 independent reviewers. Eligible studies reported empirical data on the perspectives of patients, family members, and/or the general public in the US on the personal utility of any type of health-related genetic or genomic test. We utilized a standardized codebook to extract study and participant characteristics. We summarized demographic characteristics descriptively across all studies and by subgroup based on study and participant characteristics.
Findings:
We included 52 studies with 13 251 eligible participants. Sex or gender was the most frequently reported demographic characteristic (48 studies [92.3%]), followed by race and ethnicity (40 studies [76.9%]), education (38 studies [73.1%]), and income (26 studies [50.0%]). Across studies, participants disproportionately were women or female (mean [SD], 70.8% [20.5%]), were White (mean [SD], 76.1% [22.0%]), had a college degree or higher (mean [SD], 64.5% [19.9%]), and reported income above the US median (mean [SD], 67.4% [19.2%]). Examination of subgroups of results by study and participant characteristics evidenced only small shifts in demographic characteristics.
Conclusions and relevance:
This systematic review examined the demographic characteristics of individual participants in studies of the personal utility of health-related genetic and genomic testing in the US. The results suggest that participants in these studies were disproportionately White, college-educated women with above-average income. Understanding the perspectives of more diverse individuals regarding the personal utility of genetic and genomic testing may inform barriers to research recruitment and uptake of clinical testing in currently underrepresented populations.
Direct-to-consumer genetic tests (DTC-GT) offer a variety of genetic health risk information. Understanding evidence of impacts is required for effective policy to protect consumers and healthcare services. We undertook a systematic review according to PRISMA guidelines, searching five literature databases for articles assessing analytic or clinical validity, or reporting consumer or healthcare professional experience with health risk information derived from DTC-GT, published between November 2014 and July 2020. We performed a thematic synthesis to identify descriptive and analytical themes. Forty-three papers met inclusion criteria. Many consumers submit raw DTC-GT data for third-party interpretation (TPI). DTC-GT sometimes report 'false positive' or incorrectly interpreted rare variants, or that such information can result from TPI. Consumers have high expectations of DTC-GT and TPI, and are broadly satisfied, although many do not act on results. A minority of consumers experience adverse psychological impacts. Healthcare consultations can be complex, and professionals have reservations about the validity and utility of DTC-GT-derived information. The contrast between consumer and health professional perceptions can result in mutual dissatisfaction with consultations. Health risk information from DTC-GT and TPI is broadly valued by consumers but presents complex challenges for healthcare services and some consumers.
Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct‐to‐consumer genetic testing (DTC‐GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC‐GT through asynchronous messaging. A thematic analysis was conducted on 34 de‐identified chat transcripts between genetic counselors and clients who underwent DTC‐GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC‐GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC‐GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC‐GT.
Objective
To examine the impact of various presentations of pharmacogenomic testing results using a published, color-coded decision support tool (DST) format as a standard stimulus to list possible medications.
Methods
Participants were randomly assigned to groups and asked to decide which psychotropic medication they would prefer if depressed. Three of the groups varied the color-coded category of fluoxetine and received a statement indicating that this was the most prescribed drug for depression. A fourth control condition omitted base rate information. Participants also provided detail about their decision-making processes through a qualitative interview.
Results
Comparison of the first three groups indicated that significantly more participants selected medications from the highest category of likely effectiveness when fluoxetine appeared in this list. Comparison of the control group to its relevant analogue suggested no significant differences in selection strategy. Qualitative interview responses indicated participant comfort with genetic testing despite awareness of having very limited understanding of these techniques and their implications.
Conclusions
Both DST color-coding and base rates were influential in driving drug selection decisions, despite most participants indicating they did not understand this information.
Innovation
Efforts to standardize pharmacogenomic stimuli may lead to advances in methods of studying quantifiable healthcare decisions. Attention to the context for presenting test results may also be a useful source of understanding patient responses, particularly regarding complex tests that are likely to be interpreted heuristically.
In recent years, demand for genetic counseling and genetic testing has drastically increased as genomics has become integrated within routine medical care. However, the current workforce of genetic counselors and medical geneticists cannot meet patient demand for genetic services, necessitating new models of genetic service delivery. This chapter explores the history and current practices of the genetic counseling profession, explains the need for new approaches in genetic service delivery, and describes innovative, scalable models for the delivery of genetic testing and genetic counseling services.
Brain health entails mental wellbeing and cognitive health in the absence of brain disorders. The past decade has seen an explosion of tests, cognitive and biological, to predict various brain conditions, such as Alzheimer's Disease. In line with these current developments, we investigated people's willingness and reasons to—or not to—take a hypothetical brain health test to learn about risk of developing a brain disease, in a cross-sectional multilanguage online survey. The survey was part of the Global Brain Health Survey, open to the public from 4th June 2019 to 31st August 2020. Respondents were largely recruited via European brain councils and research organizations. 27,590 people responded aged 18 years or older and were predominantly women (71%), middle-aged or older (>40 years; 83%), and highly educated (69%). Responses were analyzed to explore the relationship between demographic variables and responses.ResultsWe found high public interest in brain health testing: over 91% would definitely or probably take a brain health test and 86% would do so even if it gave information about a disease that cannot be treated or prevented. The main reason for taking a test was the ability to respond if one was found to be at risk of brain disease, such as changing lifestyle, seeking counseling or starting treatment. Higher interest in brain health testing was found in men, respondents with lower education levels and those with poor self-reported cognitive health.Conclusion
High public interest in brain health and brain health testing in certain segments of society, coupled with an increase of commercial tests entering the market, is likely to put pressure on public health systems to inform the public about brain health testing in years to come.
The number of people accessing their own polygenic risk scores (PRSs) online is rapidly increasing, yet little is known about why people are doing this, how they react to the information, and what they do with it. We conducted a qualitative interview-based study with people who pursued PRSs through Impute.me, to explore their motivations for seeking PRS information, their emotional reactions, and actions taken in response to their results. Using interpretive description, we developed a theoretical model describing the experience of receiving PRSs in a direct-to-consumer (DTC) context. Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed and experiencing medical distrust, which drove them to self-advocate for their health, which ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants but could be distressing when PRS information did not align with participants’ perceptions of their personal or family histories. Behavioural changes made in response to PRS results included dietary modifications, changes in vitamin supplementation and talk-based therapy. Our data provides the first qualitative insight into how people’s lived experience influence their interactions with DTC PRSs.
Advances in biomarkers, genetics, and other data used as dementia risk evidence (DRE) are increasingly informing clinical diagnosis and management. The purpose of this Mini-Forum is to provide a solutions-based discussion of the ethical and legal gaps and practical questions about how to use and communicate these data. Investigators often use DRE in research. When participants ask for their personal results, investigators have concerns. Will data that was intended to study groups be valid for individuals? Will sharing data cause distress? Debates around sharing DRE became heated when blood-based amyloid tests and amyloid reducing drugs appeared poised to enable clinicians easily to identify people with elevated brain amyloid and reduce it with a drug. Such an approach would transform the traditional role of DRE from investigational to foundational; however, then the high costs, uncertain clinical benefits and risks of the therapy led to an urgent need for education to support clinical decision making. Further complicating DRE use are direct to consumer genetic testing and increasingly available biomarker testing. Withholding DRE becomes less feasible and public education around responsible use and understanding become vital. A critical answer to these legal and ethical issues is supporting education that clearly delineates known risks, benefits, and gaps in knowledge, and communication to promote understanding among researchers, clinicians, patients, and all stakeholders. This paper provides an overview and identifies general concepts and resource documents that support more informed discussions for individuals and interdisciplinary groups.
Recent advances in science and technology have enabled genetic testing to be conducted inexpensively, expeditiously, and directly by consumers, therefore allowing individuals access to their genetic information without the intervention of healthcare practitioners. This technology can assist individuals to better manage their wellbeing and conserve healthcare funds. Yet, direct-to-consumer genetic testing is not free from controversy primarily due to potential human rights infringements and a perceived lack of regulation. While direct-to-consumer genetic testing may provide consumers with autonomy, involvement in healthcare decisions, convenience, and enhanced genetic literacy, the field remains contentious. The questionable validity, accuracy, and utility of tests, the absence of professional oversight and lack of suitable genetic counselling, potential result misinterpretation, consent processes, follow-up costs which burden healthcare systems, and privacy concerns surrounding the usage and confidentiality of genetic data for research, have brought direct-to-consumer genetic testing to the fore. Despite its growing prevalence, direct-to-consumer genetic testing remains greatly under-investigated in South Africa and, while the need for regulation has been highlighted, it is yet to be fully examined. Therefore, in this dissertation, I map the current legal landscape relating to direct-to-consumer genetic testing in South Africa. This is done through a comprehensive legal analysis of South Africa’s extant law relevant to the industry, and the issues associated therewith – with the intention of determining if, and how, direct-to-consumer genetic testing is legally governed in South Africa and how its various aspects and processes function within the current legislative framework. Through this analysis, I find that the legal landscape in South Africa relating to direct-to- consumer genetic testing is multi-layered and the industry is, in fact, governed by a variety of, sometimes overlapping, statutes and regulations. Clarifying South Africa’s current legal landscape regarding direct-to-consumer genetic testing enables local, as well as foreign, direct-to- consumer genetic testing companies operating in South Africa to better understand the parameters within which they may legally function, in terms of offering genetic tests directly to the public and subsequent genetic research conducted using the genetic data obtained from the samples of consumers.
This study explores privacy concerns perceived by people with respect to having their DNA tested by direct-to-consumer (DTC) genetic testing companies such as 23andMe and Ancestry.com. Data collected from 510 respondents indicate that those who have already obtained a DTC genetic test have significantly lower levels of privacy and security concerns than those who have not obtained a DTC genetic test. Qualitative data from respondents of both these groups show that the concerns are mostly similar. However, the factors perceived to alleviate privacy concerns are more varied and nuanced amongst those who have obtained a DTC genetic test. Our data suggest that privacy concerns or lack of concerns are based on complex and multiple considerations including data ownership, access control of data and regulatory authorities of social, political and legal systems. Respondents do not engage in a full cost/benefit analysis of having their DNA tested.
Genome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with complex, clinically heterogeneous presentations. Emerging evidence shows generally favorable experiences for patients and families receiving GS. As a result, implementation of GS in pediatrics is gaining momentum. To inform implementation, we conducted a qualitative study to explore the personal utility of GS for parents of children with medical complexity (CMC). GS was performed at an academic tertiary‐care center for CMC for whom a genetic etiology was suspected. Following the return of GS results, semi‐structured interviews were conducted with 14 parents about their child's diagnostic journey. Of the children whose parents were interviewed, six children received a diagnosis, two received a possible diagnosis, and six did not receive a diagnosis. A predominantly deductive thematic analysis approach to the interview data was used by applying Kohler's personal utility framework to understand affective, cognitive, behavioral and social impacts of GS. Both the diagnosed and undiagnosed groups experienced enhanced emotion‐focused coping (affective). The diagnosed group experienced favorable utility related to knowledge of condition (cognitive) and communication with relatives (behavioral). A domain beyond Kohler's framework related to the presence or absence of GS impact on medical management was also described by parents. The deployment of GS late in the diagnostic odyssey and the limited knowledge available for the rare genetic disorders diagnosed in this cohort appeared to diminish the perceived utility of GS. As GS capabilities continue to evolve at a rapid pace and become available earlier in the diagnostic journey, it is important to consider the impact and timing of testing on parents of CMC.
For the average person, genetic testing has two very different faces. The rise of genetic testing is often promoted as the democratization of genetics by enabling individuals to gain insights into their unique makeup. At the same time, many have raised concerns that genetic testing and sequencing reveal intensely personal and private information. As these technologies become increasingly available as consumer products, the ethical, legal, and regulatory challenges presented by genomics are ever looming. Assembling multidisciplinary experts, this volume evaluates the different models used to deliver consumer genetics and considers a number of key questions: How should we mediate privacy and other ethical concerns around genetic databases? Does aggregating data from genetic testing turn people into products by commercializing their data? How might this data reduce or exacerbate existing healthcare disparities? Contributing authors also provide guidance on protecting consumer privacy and safety while promoting innovation.
Background
Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential.
Methods
We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling.
Discussion
BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients.
Trial registration
BRIDGE is registered as NCT03985852 . The trial was registered on June 6, 2019 at clinicaltrials.gov .
Background
The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk Profile, or RiskProfile , leverages genetic and environmental information to communicate one’s risk for smoking-related diseases. Although prior studies have examined attitudes toward genetic results, little research has investigated these perceptions through a lens of in-vivo testing; that is, user-centered design feedback in response to personalized genetic results being returned contemporaneously. This qualitative study engaged current smokers in usability testing of the RiskProfile within the context of concurrently receiving this personalized, genetically-informed smoking cessation intervention.
Methods
Eighty-nine participants who were current smokers responded to open-ended interview questions on perceptions of smoking-related genetic information and the content and format of the RiskProfile intervention that they had received moments before. Data were analyzed via the conventional content analysis approach in which themes were allowed to emerge throughout the analysis.
Results
Participants were able to reference and offer design input on specific elements of the RiskProfile . Overall, current smokers perceived the RiskProfile to have high potential utility. Constructive feedback that current smokers offered about the tool centered around suggested improvements to optimize its usability and technical content.
Conclusions
The detailed and constructive feedback from participants highlights that in-vivo feedback offers a useful design approach that addresses concerns of rigor and relevance when returning genetic results. This unique method demonstrated perceived utility and constructive design feedback for the RiskProfile among current smokers and can play an important role in optimizing the design and implementation of personalized genetic risk interventions moving forward.
Background: Despite the expansion of pharmacogenetics (PGx), the views of pediatric patients remain unknown. This study explores adolescents’ understanding and perceptions of PGx testing. Methods: Adolescents who had PGx testing were interviewed and their electronic health records were reviewed. Results: Adolescents accurately described reason for testing and most felt the results impacted their current and future care. None perceived risks to securing future employment or insurance. All felt PGx would benefit their peers. Conclusion: Adolescents understand the reasons for PGx and perceive testing to be useful, low risk and applicable to peers. Findings from this study advocate for the inclusion of adolescents in shared decision-making regarding testing and for active engagement in the discussion of results.
Introduction
How do people receive unexpected positive health risk information? While common motivational accounts predict acceptance, consistency accounts such as the cue-adaptive reasoning account (CARA) predict a ‘lack of reassurance’.
Objectives
We therefore tested (1) whether people prefer striving for positivity or retaining a sense of self-consistency (‘lack of reassurance’), and (2) if there are systematic differences in short- and long-term reception, which would indicate temporal dynamics in processing.
Methods
As part of a longitudinal cohort study, participants of a community health screening (N = 1,055) received their actual cholesterol readings. Feedback reception was assessed immediately, at one month and six months.
Results
Processing trajectories for unexpected positive feedback showed a significant ‘lack of reassurance’ effect over time compared with expected positive feedback, while unexpected negative feedback was less threatening than expected negative feedback.
Conclusions
The perseverance of this ‘lack of reassurance’ over time indicates that striving for consistency in self-views is a robust phenomenon, even if it means forfeiting a better view of one’s own health.
Millions of people today have access to their personal genomic information. Direct-to-consumer services and integration with other “big data” increasingly commoditize what was rightly celebrated as a singular achievement in February 2001 when the first draft human genomes were published. But such remarkable technical and scientific progress has not been without its share of missteps and growing pains. Science invited the experts below to help explore how we got here and where we should (or ought not) be going.
Background
Implementation of precision oncology interventions poses several challenges to informed consent and patient education. This study assessed cancer patients’ understanding, expectations, and outcomes regarding participation in research examining the impact of matched tumor and germline sequencing on their clinical care.
Methods
A total of 297 patients (mean age: 59 years; 50% female; 96% white) with refractory, metastatic cancer were surveyed, including 217 who completed surveys both before and after undergoing integrated whole exome and transcriptome sequencing as part of a larger clinical research study.
Results
At baseline, the vast majority of patients expected to receive several potential direct benefits from study participation, including written reports of sequencing findings (88%), greater understanding of the causes of their cancer (74%), and participation in clinical trials for which sequencing results would make them eligible (84%). In most cases, these benefits were not realized by study completion. Despite explanations from study personnel to the contrary, most participants (67%‐76%) presumed that incidental germline sequencing findings relevant to noncancerous health conditions (eg, diabetes) would automatically be disclosed to them. Patients reported low levels of concern about study risks at baseline and low levels of regret about study participation at follow‐up.
Conclusions
Findings suggest that cancer patients participating in precision oncology intervention research have largely unfulfilled expectations of direct benefits related to their study participation. Increased focus on patient education to supplement the informed consent process may help manage patients’ expectations regarding the extent and likelihood of benefits received as a result of undergoing genomic sequencing.
There is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). However, some customers may also be motivated by finding out whether their existing diseases have a genetic etiology. We evaluated the impact of an existing medical diagnosis on customer interest in condition-specific results from PGT.
Using a prospective online survey of PGT customers, we measured customer interest prior to receiving PGT results for 11 health conditions, and examined the association between interest and personal medical history of these conditions using logistic regression.
We analyzed data from 1,538 PGT customers, mean age 48.7 years, 61 % women, 90 % White, and 47 % college educated. The proportion of customers who were 'very interested' in condition-specific PGT varied considerably, from 28 % for ulcerative colitis to 68% for heart disease. After adjusting for demographic and personal characteristics including family history, having a diagnosis of the condition itself was significantly associated with interest in genetic testing for risk of that condition, with odds ratios ranging from 2.07 (95 % CI 1.28-3.37) for diabetes to 19.99 (95 % CI 4.57-87.35) for multiple sclerosis.
PGT customers are particularly interested in genetic markers for their existing medical conditions, suggesting that the value of genetic testing is not only predictive, but also explanatory.
To assess customer comprehension of health-related personal genomic testing (PGT) results.
We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer's disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension.
Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥60 years) was associated with lower comprehension scores.
Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics. © 2015 S. Karger AG, Basel.
The aim of this study was to measure changes to genetics knowledge and self-efficacy following personal genomic testing (PGT).
New customers of 23andMe and Pathway Genomics completed a series of online surveys. We measured genetics knowledge (nine true/false items) and genetics self-efficacy (five Likert-scale items) before receipt of results and 6 months after results and used paired methods to evaluate change over time. Correlates of change (e.g., decision regret) were identified using linear regression.
998 PGT customers (59.9% female; 85.8% White; mean age 46.9 ± 15.5 years) were included in our analyses. Mean genetics knowledge score was 8.15 ± 0.95 (out of 9) at baseline and 8.25 ± 0.92 at 6 months (P = 0.0024). Mean self-efficacy score was 29.06 ± 5.59 (out of 35) at baseline and 27.7 ± 5.46 at 6 months (P < 0.0001); on each item, 30-45% of participants reported lower self-efficacy following PGT. Change in self-efficacy was positively associated with health-care provider consultation (P = 0.0042), impact of PGT on perceived control over one's health (P < 0.0001), and perceived value of PGT (P < 0.0001) and was negatively associated with decision regret (P < 0.0001).
Lowered genetics self-efficacy following PGT may reflect an appropriate reevaluation by consumers in response to receiving complex genetic information.Genet Med advance online publication 26 March 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.34.
Designed in collaboration with 23andMe and Pathway Genomics, the Impact of Personal Genomics (PGen) Study serves as a model for academic-industry partnership and provides a longitudinal dataset for studying psychosocial, behavioral, and health outcomes related to direct-to-consumer personal genomic testing (PGT). Web-based surveys administered at three time points, and linked to individual-level PGT results, provide data on 1,464 PGT customers, of which 71% completed each follow-up survey and 64% completed all three surveys. The cohort includes 15.7% individuals of non-white ethnicity, and encompasses a range of income, education, and health levels. Over 90% of participants agreed to re-contact for future research.
Electronic supplementary material
The online version of this article (doi:10.1186/s13073-014-0096-0) contains supplementary material, which is available to authorized users.
Direct-to-consumer (DTC) genetic services have generated enormous controversy from their first emergence. A dramatic recent manifestation of this is the Food and Drug Administration's (FDA) cease and desist order against 23andMe, the leading provider in the market. Critics have argued for the restrictive regulation of such services, and even their prohibition, on the grounds of the harm they pose to consumers. Their advocates, by contrast, defend them as a means of enhancing the autonomy of those same consumers. Autonomy emerges as a key battle-field in this debate, because many of the 'harm' arguments can be interpreted as identifying threats to autonomy. This paper assesses whether DTC genomic services are a threat to, or instead, an enhancement of, personal autonomy. It deploys Joseph Raz's account of personal autonomy, with its emphasis on choice from a range of valuable options. It then seeks to counter claims that DTC genomics threatens autonomy because it involves manipulation in contravention of consumers' independence or because it does not generate valuable options which can be meaningfully engaged with by consumers. It is stressed that the value of the options generated by DTC genomics should not be judged exclusively from the perspective of medical actionability, but should take into consideration plural utilities. Finally, the paper ends by broaching policy recommendations, suggesting that there is a strong autonomy-based argument for permitting DTC genomic services, and that the key question is the nature of the regulatory conditions under which they should be permitted. The discussion of autonomy in this paper helps illuminate some of these conditions.
Background. Inherited BRCA gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit BRCA mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information directly to consumers are unknown.
Methods. To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service® report of three BRCA mutations that are common in Ashkenazi Jews, we invited all 136 BRCA1 and BRCA2 mutation-positive individuals in the 23andMe customer database who had chosen to view their BRCA reports to participate in this IRB-approved study. We also invited 160 mutation-negative customers who were matched for age, sex and ancestry. Semi-structured phone interviews were completed for 32 mutation carriers, 16 women and 16 men, and 31 non-carriers. Questions addressed personal and family history of cancer, decision and timing of viewing the BRCA report, recollection of the result, emotional responses, perception of personal cancer risk, information sharing, and actions taken or planned.
Results. Eleven women and 14 men had received the unexpected result that they are carriers of a BRCA1 185delAG or 5382insC, or BRCA2 6174delT mutation. None of them reported extreme anxiety and four experienced moderate anxiety that was transitory. Remarkably, five women and six men described their response as neutral. Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. Male carriers realized that their test results implied genetic risk for female relatives, and several of them felt considerably burdened by this fact. Sharing mutation information with family members led to screening of at least 30 relatives and identification of 13 additional carriers. Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their BRCA mutation status.
Conclusions. Direct access to BRCA mutation tests, considered a model for high-risk actionable genetic tests of proven clinical utility, provided clear benefits to participants. The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified. Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.
Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.
In recent years there has been a dramatic increase in the discovery of information related to the genetic risk of disease, as well as in the technical ability to accurately measure an individual's genotype. These advances underlie the promise of personalized medicine, in which a patient's genotype informs the medical care they receive. Private companies are attempting to capitalize on these advances by providing direct-to-consumer (DTC)6 genetic testing that estimates the risk of disease for a customer, given their genotype. Because these tests make claims about medical conditions, they have come under scrutiny by regulatory agencies. We ask experts in the field to comment on several issues relevant to DTC genetic testing.
DTC genetic testing is based primarily on associations between common genetic variants and disease. Do we have enough evidence about these associations to use them as genetic tests?
Eric Topol: Yes, without question, in select circumstances. For several pharmacogenomic interactions, the information can be especially valuable for an individual to avoid a major adverse side effect (as with carbamazepine) or to ensure efficacy (clopidogrel). Also, when there is clear evidence of heightened risk (e.g., 2-fold or greater) for a common disease, such as diabetes, heart attack, colon, melanoma, or other cancers, there can be actionable information to get appropriate screening (e.g., colonoscopy) or potential preventive steps (e.g., protection from the sun). As we move toward sequencing and identification of rare or low-frequency variants that have high penetrance, it is unlikely that the heightened risk from the previously identified common variants will go away.
James Evans: We clearly do not. This is best demonstrated by several straightforward studies in which the same sample was sent to leading DTC companies for analysis. The results included wildly divergent risk estimates, with companies reporting “above average,” “below average,” and “average” risks …
This article presents information about the development and evaluation of the SF-36 Health Survey, a 36-item generic measure of health status. It summarizes studies of reliability and validity and provides administrative and interpretation guidelines for the SF-36. A brief history of the International Quality of Life Assessment (IQOLA) Project is also included.
As patients become more involved in health care decisions, there may be greater opportunity for decision regret. The authors could not find a validated, reliable tool for measuring regret after health care decisions.
A 5-item scale was administered to 4 patient groups making different health care decisions. Convergent validity was determined by examining the scale's correlation with satisfaction measures, decisional conflict, and health outcome measures.
The scale showed good internal consistency (Cronbach's alpha = 0.81 to 0.92). It correlated strongly with decision satisfaction (r = -0.40 to -0.60), decisional conflict (r = 0.31 to 0.52), and overall rated quality of life (r = -0.25 to -0.27). Groups differing on feelings about a decision also differed on rated regret: F(2, 190) = 31.1, P < 0.001. Regret was greater among those who changed their decisions than those who did not, t(175) = 16.11, P < 0.001.
The scale is a useful indicator of health care decision regret at a given point in time.
Purpose:
To measure the frequency of prescription medication changes following direct-to-consumer personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received.
Methods:
New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. "Atypical response" pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation.
Results:
Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11).
Conclusion:
Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing.Genet Med advance online publication 22 September 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.141.
Background:
Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP).
Objective:
To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP.
Design:
Longitudinal, prospective cohort study.
Setting:
Online survey before and 6 months after results.
Participants:
DTC PGT consumers.
Measurements:
Consumer satisfaction with the DTC PGT experience; whether and, if so, how many results could be used to improve health; how many results were not understood; and beliefs about the PCP's understanding of genetics. Participants were asked with whom they had discussed their results. Genetic reports were linked to survey responses.
Results:
Among 1026 respondents, 63% planned to share their results with a PCP. At 6-month follow-up, 27% reported having done so, and 8% reported sharing with another health care provider only. Common reasons for not sharing results with a health care provider were that the results were not important enough (40%) or that the participant did not have time to do so (37%). Among participants who discussed results with their PCP, 35% were very satisfied with the encounter, and 18% were not at all satisfied. Frequently identified themes in participant descriptions of these encounters were actionability of the results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%).
Limitation:
Participants may not be representative of all DTC PGT consumers.
Conclusion:
A comprehensive picture of DTC PGT consumers who shared their results with a health care provider is presented. The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve.
Primary funding source:
National Institutes of Health.
Background:
Increasing use of genetic testing raises questions about disclosing secondary findings, including pleiotropic information.
Objective:
To determine the safety and behavioral effect of disclosing modest associations between apolipoprotein E (APOE) genotype and coronary artery disease (CAD) risk during APOE-based genetic risk assessments for Alzheimer disease (AD).
Design:
Randomized, multicenter equivalence clinical trial. (ClinicalTrials.gov: NCT00462917).
Setting:
Four teaching hospitals.
Participants:
257 asymptomatic adults were enrolled, 69% of whom had 1 AD-affected first-degree relative.
Intervention:
Disclosure of genetic risk information about AD and CAD (AD+CAD) or AD only (AD-only).
Measurements:
Primary outcomes were Beck Anxiety Inventory (BAI) and Center for Epidemiologic Studies Depression Scale (CES-D) scores at 12 months. Secondary outcomes were all measures at 6 weeks and 6 months and test-related distress and health behavior changes at 12 months.
Results:
At 12 months, mean BAI scores were 3.5 in both the AD-only and AD+CAD groups (difference, 0.0 [95% CI, -1.0 to 1.0]), and mean CES-D scores were 6.4 and 7.1 in the AD-only and AD+CAD groups, respectively (difference, 0.7 [CI, -1.0 to 2.4]). Both confidence bounds fell within the equivalence margin of ± 5 points. Among carriers of the APOE ϵ4 allele, distress was lower in the AD+CAD groups (difference, -4.8 [CI, -8.6 to -1.0]) (P = 0.031 for the interaction between group and APOE genotype). Participants in the AD+CAD groups also reported more health behavior changes, regardless of APOE genotype.
Limitations:
Outcomes were self-reported by volunteers without severe anxiety, severe depression, or cognitive problems. Analyses omitted 33 randomly assigned participants.
Conclusion:
Disclosure of pleiotropic information did not increase anxiety or depression and may have decreased distress among persons at increased risk for 2 conditions. Providing risk modification information about CAD improved health behaviors. Findings highlight the potential benefits of disclosure of secondary genetic findings when options exist for decreasing risk.
Primary funding source:
National Human Genome Research Institute.
A US drug-agency clampdown is unwarranted without evidence of harm, say Robert C. Green and Nita A. Farahany.
Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics.
Background:
There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease.
Methods:
The Scripps Genomic Health Initiative is a prospective longitudinal cohort study of adults who purchased the Navigenics Health Compass, a commercially available genomic test. Web based assessments were administered at baseline, short (3 months), and long term (1 year) follow-up.
Results:
2240 participants completed either or both follow-ups and a subset of 1325 completed long term follow-up. There were no significant differences from baseline in anxiety (p=0.50), fat intake (p=0.34), or exercise (p=0.39) at long term follow-up, and 96.8% of the sample had no test related distress. Longitudinal linear mixed model analyses were consistent with results of cross-sectional analyses. Screening test completion was associated with sharing genomic test results with a physician (36.0% shared; p<0.001) and perceived utility of the test (61.5% high perceived utility; p=0.002), but was not associated with the genomic risk estimate values themselves.
Conclusions:
Over a third of DTC genomic test recipients shared their results with their own physician during an approximate 1 year follow-up period, and this sharing was associated with higher screening test completion. Genomic testing was not associated with long term psychological risks, and most participants reportedly perceived the test to be of high personal utility.
Direct-to-consumer (DTC) genetic tests can be purchased over the internet. Some companies claim to provide relative genetic risks for various diseases and thus encourage healthy behaviour. There are concerns that exposure to such information may actually discourage healthy behaviour or increase health anxiety. An online survey was conducted (n = 275). Respondents were composed of individuals who had purchased a DTC genetic test and received their results (consumers, n = 189), as well as individuals who were either awaiting test results or considering purchasing a test (potential consumers, n = 86). Consumers were asked if their health behaviour or health anxiety had changed after receiving their results. Respondents' current health behaviour and health anxiety were queried and compared. In total, 27.3 % of consumers claimed a change in health behaviour, all either positive or neutral, with no reported cessation of any existing health behaviour. A change in health anxiety was claimed by 24.6 % of consumers, 85.3 % of which were a reduction. Consumers had significantly better health behaviour scores than potential consumers (p = 0.02), with no significant difference in health anxiety. This study points towards an association between receipt of DTC genetic test results and increased adoption of healthy behaviours for a minority of consumers based on self-report, with more mixed results in relation to health anxiety.
Broad genome-wide testing is increasingly finding its way to the public through the online direct-to-consumer marketing of so-called personal genome tests. Personal genome tests estimate genetic susceptibilities to multiple diseases and other phenotypic traits simultaneously. Providers commonly make use of Terms of Service agreements rather than informed consent procedures. However, to protect consumers from the potential physical, psychological and social harms associated with personal genome testing and to promote autonomous decision-making with regard to the testing offer, we argue that current practices of information provision are insufficient and that there is a place - and a need - for informed consent in personal genome testing, also when it is offered commercially. The increasing quantity, complexity and diversity of most testing offers, however, pose challenges for information provision and informed consent. Both specific and generic models for informed consent fail to meet its moral aims when applied to personal genome testing. Consumers should be enabled to know the limitations, risks and implications of personal genome testing and should be given control over the genetic information they do or do not wish to obtain. We present the outline of a new model for informed consent which can meet both the norm of providing sufficient information and the norm of providing understandable information. The model can be used for personal genome testing, but will also be applicable to other, future forms of broad genetic testing or screening in commercial and clinical settings.
We assessed how much, if anything, people would pay for a laboratory test that predicted their future disease status. A questionnaire was administered via an internet-based survey to a random sample of adult US respondents. Each respondent answered questions about two different scenarios, each of which specified: one of four randomly selected diseases (Alzheimer's, arthritis, breast cancer, or prostate cancer); an ex ante risk of developing the disease (randomly designated 10 or 25%); and test accuracy (randomly designated perfect or 'not perfectly accurate'). Willingness-to-pay (WTP) was elicited with a double-bounded, dichotomous-choice approach. Of 1463 respondents who completed the survey, most (70-88%, depending on the scenario) were inclined to take the test. Inclination to take the test was lower for Alzheimer's and higher for prostate cancer compared with arthritis, and rose somewhat with disease prevalence and for the perfect versus imperfect test [Correction made here after initial online publication.]. Median WTP varied from $109 for the imperfect arthritis test to $263 for the perfect prostate cancer test. Respondents' preferences for predictive testing, even in the absence of direct treatment consequences, reflected health and non-health related factors, and suggests that conventional cost-effectiveness analyses may underestimate the value of testing.
Gray SW, Hornik RC, Schwartz JS, Armstrong K. The impact of risk information exposure on women's beliefs about direct-to-consumer genetic testing for BRCA mutations.
Despite an increase in direct-to-consumer (DTC) genetic testing, little is known about how variations in website content might alter consumer behavior. We evaluated the impact of risk information provision on women's attitudes about DTC BRCA testing. We conducted a randomized experiment; women viewed a ‘mock’BRCA testing website without [control group (CG)] or with information on the potential risks of DTC testing [RG; framed two ways: unattributed risk (UR) information and risk information presented by experts (ER)]. Seven hundred and sixty-seven women participated; mean age was 37 years, mean education was 15 years, and 79% of subjects were white. Women in the RG had less positive beliefs about DTC testing (mean RG = 23.8,CG = 25.2;p = 0.001), lower intentions to get tested (RG = 2.8,CG = 3.1;p = 0.03), were more likely to prefer clinic-based testing (RG = 5.1,CG = 4.8;p = 0.03) and to report that they had seen enough risk information (RG = 5.3,CG = 4.7;p < 0.001). UR and ER exposure produced similar effects. Effects did not differ for women with or without a personal/family history of breast/ovarian cancer. Exposing women to the potential risks of DTC BRCA testing altered their beliefs, preferences, and intentions. Risk messages appear to be salient to women irrespective of their chance of having a BRCA mutation.
Direct-to-consumer (DTC) genetic testing has attracted a great amount of attention from policy makers, the scientific community, professional groups, and the media. Although it is unclear what the public demand is for these services, there does appear to be public interest in personal genetic risk information. As a result, many commentators have raised a variety of social, ethical, and regulatory issues associated with this emerging industry, including privacy issues, ensuring that DTC companies provide accurate information about the risks and limitations of their services, the possible adverse impact of DTC genetic testing on healthcare systems, and concern about how individuals may interpret and react to genetic risk information.
Roberts JS, Christensen KD, Green RC. Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics.
Susceptibility testing for common, complex adult-onset diseases is projected to become more commonplace as the rapid pace of genomic discoveries continues, and evidence regarding the potential benefits and harms of such testing is needed to inform medical practice and health policy. Apolipoprotein E (APOE) testing for risk of Alzheimer's disease (AD) provides a paradigm in which to examine the process and impact of disclosing genetic susceptibility for a prevalent, severe and incurable neurological condition. This review summarizes findings from a series of multi-site randomized clinical trials examining psychological and behavioral responses to various methods of genetic risk assessment for AD using APOE disclosure. We discuss challenges involved in disease risk estimation and communication and the extent to which participants comprehend and perceive utility in their genetic risk information. Findings on the psychological impact of test results are presented (e.g. distress), along with data on participants' health behavior and insurance purchasing responses (e.g. long-term care). Finally, we report comparisons of the safety and efficacy of intensive genetic counseling approaches to briefer models that emphasize streamlined processes and educational materials. The implications of these findings for the emerging field of personal genomics are discussed, with directions identified for future research.
The use of direct-to-consumer genomewide profiling to assess disease risk is controversial, and little is known about the effect of this technology on consumers. We examined the psychological, behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility.
We recruited subjects from health and technology companies who elected to purchase the Health Compass at a discounted rate. Subjects reported any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior at a mean (±SD) of 5.6±2.4 months after testing, as compared with baseline, along with any test-related distress and the use of health-screening tests.
From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (P=0.80), dietary fat intake (P=0.89), or exercise behavior (P=0.61). Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions (β=0.117, P<0.001). However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case.
In a selected sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests. Potential effects of this type of genetic testing on the population at large are not known. (Funded by the National Institutes of Health and Scripps Health.).
American College of Medical Genetics and Genomics: Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics
American College of Medical Genetics and
Genomics: Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med 2016; 18: 207-208.
US Department of Health and Human Services, Centers for Disease Control and Prevention: Behavioral risk factor surveillance system survey data. Atlanta, US Department of Health and Human Services
US Department of Health and Human Services, Centers for Disease Control and Prevention: Behavioral risk factor surveillance
system survey data. Atlanta, US Department
of Health and Human Services, Centers for
Disease Control and Prevention, 2012.
User Responses to DTC Genetic Testing Public Health
User Responses to DTC Genetic Testing
Public Health Genomics 2017;20:36-45
DOI: 10.1159/000455006
DNA ancestry for all
- T Vence
Vence T: DNA ancestry for all. 2014. http://
www.the-scientist.com/?articles.view/article-No/40460/title/DNA-Ancestry-for-All/ (accessed August 17, 2016).