Article

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

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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.

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... Majorities of the PGen participants reported that testing made them feel more in control of their health (65.8%) and provided them with new knowledge to improve their health (61%). While 38% said they did not consider the possibility of receiving unwanted information, only 2% reported regretting testing and even fewer (1%) reported harm (unspecified) from results (31). An earlier study of purchasers of DTC genome-wide profiling found no significant difference between pre-and post-testing assessments of anxiety symptoms (32). ...
... An analysis of that group did not yield a clear set of meaningful predictors (33). In the PGen Study, consumers who reported poor to fair health were more likely to report disappointment that their test results did not tell them more (31). Finally, even individuals who reported adjusting well to identification of a pathogenic BRCA1/2 variant through DTC genetic testing expressed a desire for more emotional support at the time of result disclosure (15). ...
... Although many consumers of DTC genetic testing express an intention to modify their lifestyle to address risk factors, studies typically show no changes at follow-up (15,30). In the PGen Study, 59% of participants said that test results would influence their management of their health (31). However, an analysis of the 762 participants who had complete cancer-related data found that those who received elevated risk estimates were not significantly more likely to change lifestyle or engage in cancer screening than those who received average or below-average risk estimates (44). ...
Article
Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.
... 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. ...
Article
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.
... Majorities of the PGen participants reported that testing made them feel more in control of their health (65.8%) and provided them with new knowledge to improve their health (61%). While 38% said they did not consider the possibility of receiving unwanted information, only 2% reported regretting testing and even fewer (1%) reported harm (unspecified) from results (31). An earlier study of purchasers of DTC genome-wide profiling found no significant difference between pre-and post-testing assessments of anxiety symptoms (32). ...
... An analysis of that group did not yield a clear set of meaningful predictors (33). In the PGen Study, consumers who reported poor to fair health were more likely to report disappointment that their test results did not tell them more (31). Finally, even individuals who reported adjusting well to identification of a pathogenic BRCA1/2 variant through DTC genetic testing expressed a desire for more emotional support at the time of result disclosure (15). ...
... Although many consumers of DTC genetic testing express an intention to modify their lifestyle to address risk factors, studies typically show no changes at follow-up (15,30). In the PGen Study, 59% of participants said that test results would influence their management of their health (31). However, an analysis of the 762 participants who had complete cancer-related data found that those who received elevated risk estimates were not significantly more likely to change lifestyle or engage in cancer screening than those who received average or below-average risk estimates (44). ...
Article
Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk. Expected final online publication date for the Annual Review of Medicine, Volume 72 is January 27, 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
... 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]. ...
Article
Full-text available
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.
... 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. ...
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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. ...
Article
Full-text available
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]. ...
Article
Full-text available
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.
... 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. ...
Article
Full-text available
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.
... Perceived benefits of genetic testing included results providing consumers with information, which could promote control over healthcare decisions and the potential to improve healthcare. Consistent with the literature, participants reported that genetic testing facilitated planning and preparing for the future (Hamilton et al., 2016;Hann et al., 2017), and the opportunity to engage in preventative interventions (Bloss et al., 2013;Hamilton et al., 2016;Roberts et al., 2017). Additional benefits included the potential for personalized medicine, and the identification of novel treatment and cures (Dolled-Filhart et al., 2012;Hann et al., 2017). ...
Article
Full-text available
As genetic testing becomes increasingly utilized in health care, consumer awareness and understanding is critical. Both are reported to be low in Australia, though there are limited studies to date. A consumer survey assessed perceived knowledge, awareness and attitudes toward genetic medicine, prior to consumers’ genomics forums in Queensland in 2018 and 2019. Data was analyzed using t-test and Mann-Whitney U tests analysis to detect any associations between sociodemographic factors and familiarity or attitudes. This highly educated and experienced health consumer cohort reported they were significantly more familiar with the healthcare system generally than genetic medicine specifically (p < 0.0001). Consumers perceived that genetic testing would be significantly more important in the future than it is currently (p < 0.00001). Consumers agreed that genetic testing should be promoted (91.4%), made available (100%), better funded (94.2%), and offered to all pregnant women (81.6%). The preferred learning modality about genetics was internet sites (62.7%) followed by talks/presentations (30.8%). Benefits of genetic testing, reported in qualitative responses, included the potential for additional information to promote personal control and improve healthcare. Perceived concerns included ethical implications (including privacy and discrimination), and current limitations of science, knowledge and/or practice. This study demonstrates that even knowledgeable consumers have little familiarity with genetic medicine but are optimistic about its potential benefits. Ethical concerns, particularly concerns regarding genetic discrimination should inform legislation and policy. Consumers are supportive of online resources in increasing genomic literacy.
... Furthermore, several other SNVs were found that may also unnecessarily raise concerns about health conditions due to uncertainty in determining whether they are pathogenic or benign. Many individuals overestimate the utility of genetic information, as evidenced by a study where~59% of respondents indicated that the information from DTC testing would influence the management of their health [17]. The reality is that even when DTC results are technically accurate, only a small portion of SNVs currently meet the following criteria to be clinically actionable: (1) the SNV interferes with gene function (i.e., is a pathogenic variant), (2) the pathogenic variant substantially increases disease risk (i.e., is highly penetrant), (3) identifying the pathogenic variant changes medical care (beyond what would already be recommended as part of healthy living), and (4) such changes in care are associated with improvements in health outcomes. ...
Article
Full-text available
We have entered an era of direct-to-consumer (DTC) genomics. Patients have relayed many success stories of DTC genomics about finding causal mutations of genetic diseases before showing any symptoms and taking precautions. However, consumers may also take unnecessary medical actions based on false alarms of “pathogenic alleles”. The severity of this problem is not well known. Using publicly available data, we compared DTC microarray genotyping data with deep-sequencing data of 5 individuals and manually checked each inconsistently reported single nucleotide variants (SNVs). We estimated that, on average, a person would have ~5 “pathogenic” alleles reported due to wrongly reported genotypes if using a 23andMe genotyping microarray. We also found that the number of wrongly classified “pathogenic” alleles per person is at least as significant as those due to wrongly reported genotypes. We show that the scale of the false alarm problem could be large enough that the medical costs will become a burden to public health.
... With the emergence of GHS in the last 15 years and the resulting surge in volume of information at declining costs, the theoretical approaches are increasingly shifting from a genetic to a genomic identity (Zwart, 2007(Zwart, , 2009Klitzman, 2009), and the growing societal relevance of the consideration of identity under the influence of genomic information is gaining attention. This is reflected, among other areas, in the economic use of genomic data for the assessment of individual health aspects in the area of "direct-to-consumer genetic testing" (Curnutte and Testa, 2012;Gollust et al., 2017;Roberts et al., 2017;Vayena and Blasimme, 2018). ...
Article
Full-text available
With the establishment of genome sequencing, the influence of genomic information on self-understanding and identity construction has become increasingly important. New sequencing methods far exceed previous genetic tests in terms of scope and quantity. Despite theoretical approaches, however, there are few empirical findings on the identity-relevant influence of genomic information. The present study examines genomic information's identity-relevant influences and considers whether developments in the field of genome sequencing may generate problems that are not yet addressed by existing identity concepts based on traditional genetic tests. The study is based on 10 partially standardized interviews with personally affected persons and four focus groups with medical laypersons as representatives of the public, which were evaluated on the basis of qualitative content analysis. As a result, this paper presents five thematic areas with identity-relevant references within subjective attitudes toward the handling of genomic information, and also derives two basic identity concepts. The results indicate that the lay discourse is still strongly based on older debates about genetic testing and that the view on the complexity of genomic information established in the scientific context has thus far no influence on the perspectives either of those affected or laypersons.
... Whilst providers usually stipulate myriad caveats and disclaimers when providing test results, maintaining those results should not be used to make medical decisions 15 (meaning they are not intended to provide actionable information), this does not reflect the reality of how probands often perceive these services. As we noted at the beginning of this article, the predominant motivation for DTC genetic testing is 'healthrelated motivations and expectations'. 2 Another study found that 59.4% of respondents who had used 23andMe statedthat their results would influence how they manage their health, 41 suggesting that these disclaimers are often unseen or ignored. As such, even though DTC test results are not intended to be actionable, it is important that discussions are framed within the reality of the expectations of probands. ...
Article
Direct-to-consumer genetic testing is a growing phenomenon, fuelled by the notion that knowledge equals control. One ethical question that arises concerns the proband’s duty to share information indicating genetic risks in their relatives. However, such duties are unenforceable and may result in the realisation of anticipated harm to relatives. We argue for a shift in responsibility from proband to provider, placing a duty on test providers in the event of identified actionable risks to relatives. Starting from Parker and Lucassen’s (2004) 'joint account model', we adapt Kilbride’s (2018) application of the rule of rescue and balance it against the relative’s right not to know, placing responsibility on the providers of direct-to-consumer genetic testing. Where the risk of disease to a relative is actionable, we argue providers ought to share results even in the face of the proband’s objections. Confidentiality issues are navigated by a pre-emptive consent model, whereby consumers agree to the sharing of certain information with their relatives ahead of testing and as a condition of testing. When a relative is informed, the proband’s privacy is protected by maximal deidentification, and the rights of the relative are met by a stepwise approach to informing that allows them to decide how much information they receive.
... DTC PGT as a site for Exploring users' views of, and trust in, participatory research Recent studies have examined why consumers undertake DTC PGT, what impact it has on their lives and identities, and how satisfied they are with the results and the process of consent (for an overview, see Turrini and Prainsack 2016;Gollust et al. 2017;Roberts et al. 2017). In particular, the National Institutes of Health (NIH)funded Impact of Personal Genomics (PGen) Study 6 analysed data from a cohort of about 1,500 consumers of two U.S. companies that provide personal genetic testing-23andMe and Pathway Genomics. ...
Article
23andMe not only sells genetic testing but also uses customer data in its R&D activities and commercial partnerships. This raises questions about transparency and informed consent. Based on a online survey conducted in 2017-18, we examine attitudes of 368 customers of 23andMe toward the company's use of their data. Our findings point at divides in the context of customers' awareness of the two-sided business model of DTC genetics and their attitudes toward consent. While most of our respondents (68%) were aware that 23andMe could store their data and use it for certain purposes without their consent, over 40% were not aware that using and sharing customer data was part of the business model. Views were also divided regarding what type of consent was most appropriate. We explore the implications of these divides for participatory research and for the importance of transparency and trust in commercially-driven scientific knowledge production.
... 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. ...
Article
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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.
... 43 With the explosion of information about the importance of genomics and the provision of direct-to-consumer testing, this problem has escalated. Questions related to privacy risks, 44 direct-to-consumer testing value, 45 and appropriate indications for provider-initiated testing may be posed to physicians and advanced practice nurses, with the unfounded assumption that these professionals are experts in this area. 46 In addition to requiring significant foundational knowledge to which many providers have not been exposed, 47 the knowledge itself is evolving too quickly to be easily summarized, making the time investment to stay current virtually impossible in general practice. ...
Article
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The promises of precision medicine are often heralded in the medical and lay literature, but routine integration of genomics in clinical practice is still limited. While the “last mile’ infrastructure to bring genomics to the bedside has been demonstrated in some healthcare settings, a number of challenges remain — both in the receptivity of today's health system and in its technical and educational readiness to respond to this evolution in care. To improve the impact of genomics on health and disease management, we will need to integrate both new knowledge and new care processes into existing workflows. This change will be onerous and time-consuming, but hopefully valuable to the provision of high quality, economically feasible care worldwide.
... [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? ...
Article
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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.
... 35 Clearly, there exist many opportunities for allied health practitioners to up-skill in this domain and understand how and why PGT services continue to attract controversy because of both the health-related information they provide and the potential for consumer misunderstandings around the shortor long-term significance of the test results. 36,37 There also exist many other issues for allied health professions to respond in relation to the appearance of genomics in healthcare practice. These include questions related to educational standardisation in an everchanging landscape, including competency building for clinicians, establishing professional regulations and ethical scopes of practice, understanding the difference between diagnostic and therapeutic decision-making, and determining how genomic testing (including PGT) may place a greater burden and demand on all allied health professionals. ...
Article
Clinical genomics is becoming mainstream, providing personalized information that is relevant to clinical assessment, management, and decision-making on a patient-by-patient basis. This emphasis on personalized medicine has been featured in medical and nursing/midwifery entry-level curricula for some time. These curricula frameworks enable work-ready professionals to embrace genomics as part of standard care. The uptake of genomics across healthcare should also feature across the allied health professions worldwide. While some allied health professions are active in the research and clinical domains, there is, to our knowledge, scant evidence of a collective effort to bring genomics into mainstream allied health practice. It is suggested that the allied health professions need to recognize and embrace opportunities to collaborate with our colleagues in medicine, nursing/midwifery, and healthcare consumers to integrate genomics into and across allied health clinical practice. This includes: understanding what "genomics" is; recognizing who may benefit from genetic testing; the cultural, ethical, and legal implications of genomics in practice; and the potential to inform treatment decisions and/or justify referral. Discussion surrounding the integration of genomics competencies within the allied health professions is required to both enlighten and determine professional practice roles in response to this increasingly relevant element of healthcare delivery worldwide.
... 13,41,42 Most notably, 23andMe has FDA approval to include APOE results in their direct-to-consumer personal genome service. 43 Given the strong public interest in genetic susceptibility testing about AD 44,45 it is likely that the number of individuals with mild memory problems-and healthy individuals-who pursue APOE-based risk information about AD will only continue to increase. ...
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Introduction: The safety of predicting conversion from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia using apolipoprotein E (APOE) genotyping is unknown. Methods: We randomized 114 individuals with MCI to receive estimates of 3-year risk of conversion to AD dementia informed by APOE genotyping (disclosure arm) or not (non-disclosure arm) in a non-inferiority clinical trial. Primary outcomes were anxiety and depression scores. Secondary outcomes included other psychological measures. Results: Upper confidence limits for randomization arm differences were 2.3 on the State Trait Anxiety Index and 0.5 on the Geriatric Depression Scale, below non-inferiority margins of 3.3 and 1.0. Moreover, mean scores were lower in the disclosure arm than non-disclosure arm for test-related positive impact (difference: -1.9, indicating more positive feelings) and AD concern (difference: -0.3). Discussion: Providing genetic information to individuals with MCI about imminent risk for AD does not increase risks of anxiety or depression and may provide psychological benefits.
... 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). ...
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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.
... It is already evident that without the input of cancer genetic clinics, at-risk relatives are not considering the potential limitations of a proposed test before choosing direct-to-consumer genetic testing. 40 The lack of guidance and advice from medical professionals about their genetic risk 40 further reinforces the need for genetic cancer clinics to clarify their responsibility for at-risk relatives. ...
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Objectives Disclosure of a hereditary condition in the family poses notable challenges for patients who often seek the assistance of genetic health professionals (GHPs). This study aimed to investigate GHPs’ opinions about the ideal time for disclosure to offspring and their responsibility to at-risk relatives. Design Cross-sectional qualitative study. Setting Genetic familial cancer clinics related to mostly secondary and tertiary care hospitals and centres in urban, regional and rural areas across all states of Australia. Participants GHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with BRCA1 and BRCA2 families for an average of 9 years. Results Focus groups and interviews were transcribed and analysed thematically. GHPs perceived that life stage, maturity, parents’ knowledge and capacity to disseminate information influenced parent–offspring disclosure. In general, GHPs recommended early informal conversations with offspring about a family illness. GHPs considered that facilitation of disclosure to relatives using counselling strategies was their responsibility, yet there were limitations to their role (eg, legal and resource constraints). Variability exists in the extent to which genetic clinics overcome challenges to disclosure. Conclusions GHPs’ views on the ideal time for the disclosure of genetic risk are generally dependent on the patient’s age and relative’s ability to disclose information. A responsibility towards the patient and their at-risk relative was widely accepted as a role of a GHP but views vary depending on legislative and specialty differences. Greater uniformity is needed in genetic procedural guidelines and the role of each discipline (eg, geneticists, genetic counsellors, oncologists, nurses and mental health specialists) in genetic clinics to manage disclosure challenges.
... 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. ...
Article
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.
... Many of these tweets also discussed the need for consumers to consult with providers about their DTC genetic testing results, which aligns with recommendations by the American College of Medical Geneticists 13 and public preferences. 14 This suggests that with increasing demand for DTC testing, demand for genetic services follow-up may follow suit, and a continuing need to address the complex ethical, legal, and social implications of DTC testing. Testimonials were mostly positive in nature, often describing positive experiences with DTC testing or explaining why the new authorization may provide useful information for others. ...
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Objectives In March 2018, the Food and Drug Administration (FDA) announced its authorization of a direct-to-consumer (DTC) genetic test for three pathogenic BRCA1/2 variants. We sought to determine to whether social media discussion increased following the authorization, who was driving social media conversations, and what topics were discussed. Methods Using Crimson Hexagon, we described tweets before, during, and after the FDA announcement authorizing 23andMe to return BRCA1/2 results (3/4/18–3/10/18). We conducted qualitative coding of a subset of 605 tweets to better understand Twitter communication. Results We identified 11 055 twitter posts across the week of FDA’s announcement. Twitter discourse about 23andMe and the FDA authorization peaked the day following the FDA’s press release. Most tweets (48.6%) were informational and 26.3% were either expressing opinions (about 23andMe and/or FDA authorization, 14.9%) or testimonials (personal experiences with genetic testing, 11.4%). The types of tweets varied over the week-long period (P < .001). Discussion Twitter discussion about the FDA’s authorization of DTC for three pathogenic BRCA1/2 variants increased immediately following the announcement. As more genetic technologies are brought to the DTC market, social media sites, like Twitter, will play a role in disseminating this information, providing a platform for information exchange, consumer testimonials, opinion pieces, and research.
... 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. ...
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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.
... 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). ...
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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.
... 8,9 At the same time, for-profit companies have sought to market genomic testing outside of the traditional medical context, despite public and professional diminished trust in the accuracy and privacy of direct-to-consumer genetic testing. [10][11][12][13][14] Because population-based approaches to genomic screening remain costly and involve challenges in high through-put sequencing, obtaining informed consent, and interpretation of genomic variants, 15,16 alternative strategies have been proposed, including testing isolated populations at higher risk for cancer, 17,18 as well as testing family members of those found to harbor pathogenic variants (mutations) in disease predisposition genes (Data Supplement). An emerging strategy, emphasized in this article, takes its origin from the increasing use of genetic testing at the time of a diagnosis of cancer, affecting both preventive and therapeutic management. ...
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PURPOSE Despite advances in DNA sequencing technology and expanded medical guidelines, the vast majority of individuals carrying pathogenic variants of common cancer susceptibility genes have yet to be identified. An alternative to population-wide genetic screening of healthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide therapy and prevention, combined with augmented familial diffusion or “cascade” of genomic risk information. METHODS Using a multiple linear regression model, we derived the time interval to detect an estimated 3.9 million individuals in the United States with a pathogenic variant in 1 of 18 cancer susceptibility genes. We analyzed the impact of the proportion of incident patients sequenced, varying observed frequencies of pathogenic germline variants in patients with cancer, differential rates of diffusion of genetic information in families, and family size. RESULTS The time to detect inherited cancer predisposing variants in the population is affected by the extent of cascade to first-, second-, and third-degree relatives (FDR, SDR, TDR, respectively), family size, prevalence of mutations in patients with cancer, and the proportion of patients with cancer sequenced. In a representative scenario, assuming a 7% prevalence of pathogenic variants across cancer types, an average family size of 3 per generation, and 15% of incident patients with cancer in the United States undergoing germline testing, the time to detect all 3.9 million individuals with pathogenic variants in 18 cancer susceptibility genes would be 46.2, 22.3, 13.6, and 9.9 years if 10%, 25%, 50%, and 70%, respectively, of all FDR, SDR, and TDR were tested for familial mutations. CONCLUSION Peridiagnostic and cascade cancer genetic testing offers an alternative strategy to achieve population-wide identification of cancer susceptibility mutations.
... 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). ...
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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.
... Our results show that people with higher education show greater openness to share this type of personal information, especially if they are generated with reliable methods, and in particular in the Italian context, excluding the right not to know". Other studies have been conducted in the past on the attitudes toward genetic testing and their perceived utility, that have revealed differences based on the level of education, too (Haga et al., 2013;Roberts et al., 2017;Flatau et al., 2018;. Our study also showed gender differences regarding the perceived utility of genetic testing and attitudes towards data sharing, such as the fact that women consider undergoing genetic testing as a preventive possibility and they want to share (and actually share) the results with parents more than men. ...
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Genetic information is increasingly provided outside of the traditional clinical setting, allowing users to access it directly via specialized online platforms. This development is possibly resulting in changing ethical and social challenges for users of predictive genetic tests. Little is known about the attitudes and experiences of users of web-accessed genetic information. This survey analyzes data from two European countries with regard to the utility of genetic information, the users' ways of making use of and dealing with information, and their sharing behavior. Particular focus is given to ethical and social questions regarding the motivation to share personal genetic results with others. Social factors tested for are national background, gender, and marital, parental, and educational status. This study will contribute to public discourse and offer ethical recommendations. The study will also serve to validate the developed questionnaire for use in population representative surveys.
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Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, and 322 individuals completed an ancestry response survey, in other words, approximately one in ten who received ancestry testing responded to the survey. Self-reported race/ethnicity was predictive of those most likely to view their results. While 46% of survey responders (N = 147) reported their ancestry results as surprising or unexpected, less than 1% (N = 3) were distressed by them. Importantly, however, 21% (N = 67) reported that their results reshaped their personal identity. Most (81%; N = 260) planned to share results with family, and 12% (N = 39) intended to share results with a healthcare provider. Many (61%; N = 196) reported test benefits (e.g., health insights), while 12% (N = 38) reported negative aspects (e.g., lack of utility). Over half (N = 162) reported being more likely to have other genetic tests in the future. DNA ancestry testing affected individuals with respect to personal identity, intentions to share genetic information with family and healthcare providers, and the likelihood to engage with other genetic tests in the future. These findings have implications for medical care and research, specifically, provider readiness to engage with genetic ancestry information.
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Advances in genomic science are informing an expansion of genetic testing for neurodegenerative diseases, which can be used for diagnostic and predictive purposes and performed in both medical and consumer genomics settings. Such testing—which is often for severe and incurable conditions like Huntington's, Alzheimer's, and Parkinson's diseases—raises important ethical and health communication challenges. This review addresses such challenges in the contexts of clinical, research, and direct-to-consumer genetic testing; these include informed consent, risk estimation and communication, potential benefits and psychosocial harms of genetic information (e.g., genetic discrimination), access to services, education and workforce needs, and health policies. The review also highlights future areas of likely growth in the field, including polygenic risk scores, use of genetic testing in clinical trials, and return of individual research results.
Article
Genetic testing decision-making for cancer predisposition is inherently complex. Understanding the mechanisms and influencing factors of the decision-making process is essential for genetic counselling and has not yet been investigated in Switzerland. This study’s aim is thus to provide a theory about the individual’s decision-making process regarding genetic testing for cancer predispositions in order to provide medical geneticists and genetic counsellors with insights into the needs and expectations of counsellees. We interviewed at-risk individuals who underwent genetic counselling in a clinical setting in Switzerland, using a grounded theory approach. Based on the interview data, we propose that a control-fate continuum, which is part of the individuals’ life philosophy, importantly influences the decision-making process. Those in need for control decide differently compared with those leaving their future to fate. Several psychosocial factors influence the position on the control-fate continuum: “looking for certainty”; “anticipating consequences”; “being socially influenced”; “simplifying risks”; and “deciding intuitively vs reflectively”. The control-fate continuum theory gives insights into the possible reasons behind decision-making regarding genetic testing for cancer predispositions. It includes both acceptors and decliners of genetic testing. Our theory helps healthcare professionals offering genetic counselling to anticipate problems within at-risk families and adapting their services to people’s needs.
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Purpose The purpose of this paper is to examine and review the available literature on ethical/unethical behaviour of pharmaceutical companies and to determine the ethical issues, unethical behaviour by analysing, summarising and categorising the factors related to these issues and unethical behaviour as were studied during the period 2008-2017. Essentially, this paper presents a critical analysis of the available literature on the subject and avenues for future research. Design/methodology/approach This paper adopted the systematic review approach to achieve the purpose of this study and examines the most relevant literature from online existing database sources, available between 2008-2017 by using the keyword search method. Then studies are categorised and summarised, using previously developed theories and frameworks, which have provided evidence to the universal consensus that ethical behavioural outcomes are dependent on the interplay of individual, organisational and environmental factors and have reordered to fulfil the purpose. Findings The findings identify that ethical issues related to pharmaceutical companies as were studied during the period 2008-2017 are drug pricing, drug safety and gift-giving. The organisational variables appeared to be the dominant cause of these ethical issues and unethical practices along with other determinants such as environmental and stakeholders. A large number of studies were in the western country context. Theoretical research has studied more comparatively empirical studies. Research limitations/implications This review provides insights for understanding the ethical issues, unethical behaviour and determinants related to these issues of pharmaceutical companies and provides insights where the literature is standing. This review only includes studies between 2008-2017, which are related to the ethical issue of pharmaceutical companies, therefore, the view is only of the past 10 years papers. This review provides gaps and insight into the source of ideas for future research and will help the researchers in guiding ethics-related information in the context of pharmaceutical companies. Practical implications This study will help the practitioners and policymakers in informing about the issues that required the urgent need to solve and will shed some light to focus and formulate strategies for successful competitive advantage. This study will help researchers who are seeking information related to ethics and ethical behaviour in pharmaceutical companies. Originality/value To the best of my knowledge, this review of understanding ethical/unethical behaviour in pharmaceutical companies of the past 10 years between 2008-2017 has not been done to date. This study is filling the gap by bringing all the information about ethics in pharmaceutical companies at one place, which works as an index of ethics-related study in this specific pharmaceutical company context.
Article
Use of direct‐to‐consumer genetic testing (DTC‐GT) is rapidly growing in the United States. Yet little is known about how specific populations like domestic and intercountry adoptees use DTC‐GT. Adoptees often have little to no biological family history, which may affect how they use DTC‐GT. This study aimed to examine adult adoptees' motivations to pursue DTC‐GT, experiences completing a test, and reasons for not completing one. An online survey consisting of 41 closed‐ended questions was distributed to domestic and intercountry adult adoptees in a snowball convenience method addressing seven areas: (a) demographics and adoption experience, (b) family health history, (c) familiarity with DTC‐GT, (d) actual DTC‐GT experience, (e) hypothetical DTC‐GT experience, (f) health results, and (g) satisfaction with DTC‐GT. Descriptive statistics were performed on participant demographics and adoption characteristics, and chi‐squared and Fisher's exact tests compared demographics and adoption characteristics by familiarity with DTC‐GT and completion of DTC‐GT. A total of 117 adoptees met criteria and completed the survey. Adoptees were motivated to use DTC‐GT to search for biological family (83.0%), verify race and ethnicity (72.3%), and find out where ancestors came from (66.0%). Most participants completed DTC‐GT (80.3%); completion was significantly associated with searching for biological relatives (p < 0.01) and with older age (p = 0.05). For those who received health information (59.6%), 44.4% of participants reported talking with a health provider. Adoptees are using DTC‐GT to search for biological relatives, confirm their ethnicity and ancestry, and gain information about their health. Genetic counselors and health professionals should be prepared to address DTC‐GT with adoptees as nearly half discussed their results with providers; findings from this study provide insight into how this unique population uses DTC‐GT, and the possibility of patient‐centered, tailored care for adopted patients who do not have family health history.
Article
Perhaps this has already happened to you. You are seeing a school-aged girl for general health maintenance, and her parents say, “We had our child tested by 23andMe and found that she is at risk for developing HFE-related hemochromatosis. What should we do?” Fortunately, in women, this disorder rarely becomes symptomatic or requires medical intervention before menopause, so you can reassure them. You may suggest that they talk with their physicians about their own risk. You may also wonder idly whether the child will be assessed for hemochromatosis in mid to late adulthood when detection would more appropriate, but you decide that medical science will be even better then.
Article
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.
Article
Background Cancer gene panel testing is available in Ireland. The need for a clear strategy to deal with patient information generated from tumour genomic testing is recognised as a challenge in the National Cancer Strategy. However, the public’s attitude and opinions regarding these results is not known in Ireland.AimsThis prospective questionnaire study assessed the knowledge and opinions of patients in a national oncology centre, surrounding cancer gene panel testing.Methods An anonymised modified validated questionnaire was completed by volunteering patients in the medical oncology department. It comprised 14 questions which assessed patient’s familiarity, intention, benefits and concerns associated with tumour genetic testing using a four-point Likert scale. Patients recorded their primary cancer diagnosis and family cancer history.ResultsEighty-four patients completed the questionnaire with 77 (92%) patients declaring their primary cancer diagnosis. The median age was 56 (range 26 to 83) years. Overall, 42% (n = 35) of oncology patients were familiar/somewhat familiar with testing and 90% (n = 76) stated they would avail of genetic testing if available. Patients with breast cancer were no more likely to avail of genetic testing when compared with the non-breast cancer cohort (n = 21 vs. 56, p = 0.58) though they identified concerns with potential discrimination.Conclusion This is the first prospective Irish study to assess opinions surrounding cancer gene results. Addressing patient’s lack of information as regards genetic testing is the first step in establishing a national cancer genetics testing programme in Ireland.
Article
To increase genetic health literacy among consumer-facing information professionals, the Network of the National Library of Medicine (NNLM) developed a class called ABCs of DNA: Unraveling the Mystery of Genetics Information for Consumers. Participants learn about genetic information resources and ways that genetics affects people’s lives and health. The class reviews genetic testing, including clinical and direct-to-consumer tests and genetic research supporting precision medicine. It also discusses ethical questions that arise from the use of genetic data. Participants have overwhelmingly reported that the class increased their knowledge of these topics and prepared them to educate consumers in genetic health literacy.
Article
Objective This study investigated how self-reported numeracy ability and preferences predict preferences for the amount and types of information provided about genome sequencing results among 1080 women diagnosed with breast cancer at age 40 or younger. Methods Participants reported their level of interest in 14 topics related to genome sequencing results on a survey. We calculated a Participant Information Needs (PIN) value based on the number of topics for which a participant wanted “a lot” of information. Numeracy was assessed using the Subjective Numeracy Scale. Analyses examined associations between the numeracy ability and preferences subscales, information needs for individual content topics, and PIN. Results Higher preference for numeric data was correlated with increased PIN (β = 0.60, p < 0.01), while numeric ability was not correlated (β=0.16, p = 0.22). Family composition and knowledge about sequencing benefits were also significant covariates. Patients most preferred information on topics related to disease risk and health implications. Conclusion There may be utility in separating numeracy ability and preferences into two components in future research in order to investigate how numeracy impacts the return of genetic testing results. Practice Implications These data suggest that numeracy preferences may be important to inform strategies for the return of genetic results.
Article
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.
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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.
Article
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.
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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.
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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 .
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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.
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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.
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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.
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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.
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Introduction: Pharmacogenetic (PGx) testing can be useful for providing information about a patient's drug response by increasing drug efficacy and decreasing the incidence of adverse drug events. While PGx tests were previously only offered to patients under healthcare provider supervision, they are now available as direct to consumer (DTC) tests. This study aimed to assess how accurately individuals from the general population were able to interpret a sample PGx test report and if accuracy differed based on individuals' numeracy or prior genetic counseling (GC). Methods: We surveyed 293 individuals from the general population, ascertained through ResearchMatch. The survey included questions about PGx test interpretation, numeracy, and genetic literacy. Results: In our cohort, numeracy level impacted PGx result interpretation, with those of high numeracy performing statistically significantly better on both the table format and graphical format (p value = 0.002 and p value <0.001, respectively) and genetic knowledge questions (p value <0.001) than those with low/average numeracy. In addition, previous GC did not impact test interpretation or genetic knowledge, but the number of individuals with prior GC was small (n = 26). Discussion/conclusion: We found that numeracy had a significant impact on correct interpretation of PGx test reports. Because many individuals in the USA have low numeracy levels, it is extremely important that patients do not make their own medication management decision based on the test results and that they consult with their physicians about their PGx testing. The importance of consultation and discussion with providers about results should be emphasized on the test report.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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 …
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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.
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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.
Article
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.
Article
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.
Article
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.
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A US drug-agency clampdown is unwarranted without evidence of harm, say Robert C. Green and Nita A. Farahany.
Article
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.
Article
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.
Article
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.
Article
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.
Article
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.
Article
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.
Article
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.
Article
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.
Article
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).