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Naked bodies, naked genomes: The special (but not exceptional) nature of genomic information
Abstract
Genetic exceptionalism, the view that genomic information is different from other types of sensitive information and deserves exceptional types of protections, has been roundly criticized. However, the public still expresses special fears about the access others might have to their genomic information. In this article, it is argued that there may be a basis for the public perception that genomic information is special, even if it cannot be said that policies could or should be enacted to protect the privacy and confidentiality of genomic information that would be exceptional relative to the protections one would enact to protect other types of sensitive information. The special nature of genomic information lies in understanding that it is neither personal property nor mere information. A genome is, at one and the same time, a physical aspect of a person and information about that person. Genomic data are embodied information that partially constitutes as well as describes individuals and that connects them in physical ways to their ancestors and their relatives. All forms of privacy need to be protected, but some intimate aspects of our lives command special respect. To see a genome is more analogous to seeing a naked body than to seeing a social security number. This metaphor suggests that clinicians and investigators ought to respect the special concerns of patients regarding genomic information while not claiming that there are any exceptional measures one could take to protect genomic privacy. Suggestions are given for how this view might affect patient interactions, consent discussions, public policy, and public trust in genomic research and clinical genetics.
Genet Med17 5, 331–336.
... 2 In 1997, Murray coined the term "genetic exceptionalism," meaning a patient's genetic information is distinct from other clinical, health-related data and should be treated as special or distinct from other health-related data. 2,[6][7][8] In the early 2000's, handling genetic information as exceptional, including legal or regulatory protections, garnered strong support. Furthermore, McGuire et al. argued that genomic information may need special policy and practice protections within the context of electronic health records (EHRs). 2 In 2008, the Genetic Information Nondiscrimination Act (GINA) was enacted to protect patients from health insurance companies discriminating against an individual based on genetic information. ...
... In the last 5 years, it was argued that genetic information is indeed distinct from other health-related information but not to the extent of requiring legal/regulatory protections, similar to other sensitive health-related data such as HIV status. 7 Additionally, Evans et al. argue that the EHR has sufficient privacy standards to hold other sensitive information such as social security numbers and that the fundamental nature of an EHR is to house highly personal information. 3 Similarly, a systematic review reported that the public had concern over privacy of genetic information, with 60% agreeing that maintaining privacy was not possible; however, 96% agreed that a direct-to-consumer testing company had protected their privacy, with 74% saying their information would be similarly or better protected in an EHR. ...
Genetic exceptionalism refers to a concept that genetic information is distinct from other health data and therefore should have additional safety guards in place. The objective of this study was to establish perceptions of pharmacogenetic (PGx) exceptionalism and genetic information privacy and management within the electronic health record (EHR) from individuals who attended a PGx‐focused conference. A 47‐question survey was distributed to 370 attendees at a PGx conference in September 2020. The survey assessed demographics, professional characteristics, perceptions of PGx exceptionalism, knowledge of genetic laws and regulations, and EHR management of PGx information. Of the 370 participants invited to take the survey, 30% (n = 110) responded. Most respondents were pharmacists with postgraduate training (76.2%, n = 48). When asked whether PGx information was exceptional, 44% of respondents agreed while 32% disagreed. Agreement with PGx exceptionalism was associated most with respondents' lack of familiarity or knowledge with PGx. Over two‐thirds (67%) felt that all members of the healthcare team should be able to access their patients’ PGx information without restriction in the EHR. This study identified a lack of unanimity in the perception of PGx exceptionalism and the management of PGx information within the EHR across attendees of a PGx conference. Describing the perception of accessibility of PGx information within the EHR is important to ascertain for designing privacy‐related technology, institutional management policies, and legal regulations as this area in genetics is increasingly being implemented into clinical care and clinical standards of care need to be established.
... A third factor is one's trust in organizations involved in the collection, sharing, and use of data. [14][15][16] In this paper we use the term ''genomics'' generically as a descriptor of any level of DNA testing/analysis/interpretation. In the survey itself, we used the term ''DNA information'' instead of ''genomic data'' (a term more commonly used in scientific circles) because our pilot work showed ''DNA'' was better understood than ''genetics'' or ''genomics.'' ...
... Whether DNA is similar to or different from other medical information is a repeated and contested question in discussions of ethics and law related to genetics. 14,15 In line with our previous work, the findings of the current study suggest that perceiving genetic material as exceptional does not reduce the willingness to donate, and indeed in many cases, it increases the odds of donation. 31 Therefore, in line with our recommendations to increase familiarity with genetics, a useful place to start (that may indeed increase willingness to engage in research) could be to highlight and encourage public debate about the differences and similarities between genomic and other medical data. ...
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.
... It seems understandable that part of the group perceives a difference between the two: although health and genetic data are sensitive, private and should be protected, many participants of the study, as well as previous investigations [48][49][50], described a difference between health data such as blood marker levels as compared to genomic test results. Aspects contributing to the perception that genomic information is of a special nature include the large quantity of information resulting from genetic tests, the predictive potential of genetic information, the rather frightening certainty about the connection to ancestors and relatives, and the conditional probability resulting in psychological distress or potential discrimination. ...
... Aspects contributing to the perception that genomic information is of a special nature include the large quantity of information resulting from genetic tests, the predictive potential of genetic information, the rather frightening certainty about the connection to ancestors and relatives, and the conditional probability resulting in psychological distress or potential discrimination. All forms of privacy need to be protected, but some intimate aspects of our lives need special respect [50]. As a result, it might be reasonable to mandate special considerations in terms of privacy protection and regulation of access of genetic information and practice to a certain extent: "genetic exceptionalism" [48,49]. ...
Objective:
To assess the willingness of older Swiss adults to share genetic data for research purposes and to investigate factors that might impact their willingness to share data.
Methods:
Semi-structured interviews were conducted among 40 participants (19 male and 21 female) aged between 67 and 92 years, between December 2013 and April 2014 attending the Seniorenuniversität Zürich, Switzerland. All interviews were audio-recorded, transcribed verbatim, and anonymized. For the analysis of the interviews, an initial coding scheme was developed, refined over time, and applied afterwards to all interviews.
Results:
The majority of participants were in favor of placing genetic data to research's disposal. Participant's motivations to share data were mainly driven by altruistic reasons and by contributing to the greater good. Furthermore, several factors which might impact the willingness to share data such as sharing data with private companies, generational differences, differences between sharing genetic data or health data, and sharing due to financial incentives were highlighted. Last, some participants indicated concerns regarding data sharing such as misuse of data, the fear of becoming a transparent citizen, and data safety. However, 20% of the participants express confidence in data protection. Even participants who were skeptical in the beginning of the interviews admitted the benefits of data sharing.
Discussion:
Overall, this study suggests older citizens are willing to share their data for research purposes. However, most of them will only contribute if their data is appropriately protected and if they trust the research institution to use the shared data responsibly. More transparency and detailed information regarding the data usage are urgently needed. There is a great need to increase the engagement of older adults in research since they present a large segment of our society - one which is often underexamined in research.
Conclusion:
Increased focus on general public engagement, especially of older adults, in scientific research activities known as "citizen science" is needed to further strengthen the uptake of personalized medicine.
... Since genetic information is substantially more unique than other types of information (Sankar, 2003;Sulmasy, 2014), we focus on examining the transmission principles of genetic information proposed by DTC companies. All three DTC companies located in the U.S. clearly state that they follow the U.S.-E.U. and U.S.-Swiss Safe Harbor Framework, which includes seven principles: notice, choice, onward transfer (transfers to third parties), access, security, data integrity, and enforcement. ...
... If they could, consumers' autonomy of their genetic information and privacy can be violated. Sulmasy (2014) adopts the concept of "naked body" as an analogy of personal genetic information. We can take a metaphoric example from this perspective to explain why users should retain ownership of their personal genetic information. ...
In this study, we investigated the flow of information and potential privacy infringements in Direct-to-Consumer (DTC) genetic testing services available online. We adopted Nissenbaum's framework of Contextual Integrity (CI) to examine six DTC companies? privacy policies, terms of use, and consent processes. Our analyses indicate that the flow of information within certain contexts of DTC services presents alarming privacy vulnerabilities. In this paper, we provide a new perspective that can be used when evaluating privacy vulnerabilities for a given DTC online genetic testing service. The sensitive and unique features of genetic information make privacy even more of an important consideration for this type of information than for other types of medical/health information. In addition, we have limited knowledge about the harmful consequences that can arise from privacy invasions, such as genetic information breaches, genome database hacking, and so forth. Therefore, we believe that further research and in-depth investigations from the information community are desperately needed to address the privacy of genetic information. Copyright
... It is indisputable that all forms of privacy warrant protection; however, the genome demands extraordinary respect. The viewing of a genome has been equated to witnessing nudity, a comparison underscoring the deep intimacy and privacy associated with genomic data [75]. ...
Artificial Intelligence (AI) and Machine Learning (ML) are powerful tools shaping the healthcare sector. This review considers twelve key aspects of AI in clinical practice: 1) Ethical AI; 2) Explainable AI; 3) Health Equity and Bias in AI; 4) Sponsorship Bias; 5) Data Privacy; 6) Genomics and Privacy; 7) Insufficient Sample Size and Self-Serving Bias; 8) Bridging the Gap Between Training Datasets and Real-World Scenarios; 9) Open Source and Collaborative Development; 10) Dataset Bias and Synthetic Data; 11) Measurement Bias; 12) Reproducibility in AI Research. These categories represent both the challenges and opportunities of AI implementation in healthcare. While AI holds significant potential for improving patient care, it also presents risks and challenges, such as ensuring privacy, combating bias, and maintaining transparency and ethics. The review underscores the necessity of developing comprehensive best practices for healthcare organizations and fostering a diverse dialogue involving data scientists, clinicians, patient advocates, ethicists, economists, and policymakers. We are at the precipice of significant transformation in healthcare powered by AI. By continuing to reassess and refine our approach, we can ensure that AI is implemented responsibly and ethically, maximizing its benefit to patient care and public health.
... In recent years, genome technologies have rapidly fallen in cost and massively increased in speed, leading to their global expansion and yielding unprecedented amounts of sensitive genomic information [1][2][3]. The emerging model of precision medicine (PM) necessitates large-scale population-based genome sequence data [4][5][6][7] and states and private companies have launched genome programs, and are generating massive amounts of sensitive data regarding disease susceptibility [8]. ...
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.
... 253 Fourth, the full ethical and human rights ramifications of emerging and future technologies, are simply unknown. 254 For example, de-identified shared genomes have been successfully used to reidentify individuals or their families and such information can be used adversely. 255 Moreover, while legislation may prohibit discrimination based on genetic data, the intersection of AI and health data has previously led to unintended racially discriminatory consequences that would need to be guarded against even more when genomic data gets added to algorithmic 'black boxes'. ...
Digital transformations are well underway in all areas of life. These have brought about substantial and wide-reaching changes, in many areas, including health. But large gaps remain in our understanding of the interface between digital technologies and health, particularly for young people.
The Lancet and Financial Times Commission on governing health futures 2030: growing up in a digital world argues digital transformations should be considered as a key determinant of health. But the Commission also presses for a radical rethink on digital technologies, highlighting that without a precautionary, mission-oriented, and value-based approach to its governance, digital transformations will fail to bring about improvements in health for all.
... Therefore, from the perspective of data subjects' privacy, it would seem more appropriate that a distinction (if any) in regulatory requirements for secondary use were based on the degree of sensitiveness of personal data, or simply on the degree of de-identification, rather than on the genetic or non-genetic nature of the data themselves. As it has been argued, the fact that genetic data are qualitatively different does not per se justify exceptional protection, since all data subjects' information deserves in principle privacy protection (Sulmasy, 2015). The type and nature of the data is undoubtedly an important element to determine whether special protection should be granted. ...
As accessing, collecting, and storing personal information become increasingly easier, the secondary use of data has the potential to make healthcare research more cost and time effective. The widespread reuse of data, however, raises important ethical and policy issues, especially because of the sensitive nature of genetic and health-related information. Regulation is thus crucial to determine the conditions upon which data can be reused. In this respect, the question emerges whether it is appropriate to endorse genetic exceptionalism and grant genetic data an exceptional status with respect to secondary use requirements. Using Swiss law as a case study, it is argued that genetic exceptionalism in secondary use regulation is not justified for three reasons. First, although genetic data have particular features, also other non-genetic data can be extremely sensitive. Second, having different regulatory requirements depending on the nature of data hinders the creation of comprehensible consent forms. Third, empirical evidence about public preferences concerning data reuse suggests that exceptional protection for genetic data alone is not justified. In this sense, it is claimed that regulation concerning data reuse should treat genetic data as important, but not exceptional.
... Others contend that features of genetic information are shared with characteristics such as socio-economic status, HIV status or family history [9]. They suggest that DNA can be seen as distinct and as warranting a special respect for privacy, without legal or regulatory protection beyond that accorded to other sensitive information [10]. ...
Public acceptance is critical for sharing of genomic data at scale. This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n = 8967) towards the donation of DNA and health data. Fifty-two percent of this public held ‘exceptionalist’ views about genetics (i.e., believed DNA is different or ‘special’ compared to other types of medical information). This group was more likely to be familiar with or have had personal experience with genomics and to perceive DNA information as having personal as well as clinical and scientific value. Those with personal experience with genetics and genetic exceptionalist views were nearly six times more likely to be willing to donate their anonymous DNA and medical information for research than other respondents. Perceived harms from re-identification did not appear to dissuade publics from being willing to participate in research. The interplay between exceptionalist views about genetics and the personal, scientific and clinical value attributed to data would be a valuable focus for future research.
... Many of these have been discussed in the literature to some degree, although often with a focus on a specific issue (e.g., identifiability [4,5]), or from the vantage of a single commentator [14][15][16] or stakeholder group (e.g., the general public [17,18]). Although attention has frequently been focused on genomic information [19][20][21], concerns raised by genomic data are not unique [22,23]. Rather, the possibility of certain benefits and harms may be more or less prominent in the context of research involving genomics, or genomic information provides a useful lens for considering issues that are also applicable to other kinds of data. ...
Precision medicine research is underway to identify targeted approaches to improving health and preventing disease. However, such endeavors raise significant privacy and confidentiality concerns. The objective of this study was to elucidate the potential benefits and harms associated with precision medicine research through in-depth interviews with a diverse group of thought leaders, including primarily U.S.-based experts and scholars in the areas of ethics, genome research, health law, historically-disadvantaged populations, informatics, and participant-centric perspectives, as well as government officials and human subjects protections leaders. The results suggest the prospect of an array of individual and societal benefits, as well as physical, dignitary, group, economic, psychological, and legal harms. Relative to the way risks and harms are commonly described in consent forms for precision medicine research, the thought leaders we interviewed arguably emphasized a somewhat different set of issues. The return of individual research results, harm to socially-identifiable groups, the value-dependent nature of many benefits and harms, and the risks to the research enterprise itself emerged as important cross-cutting themes. Our findings highlight specific challenges that warrant concentrated care during the design, conduct, dissemination, and translation of precision medicine research and in the development of consent materials and processes.
... without self-annihilation." 13 Yet genetic information is also profoundly interpersonal, revealing not just of oneself but also of one's biological relatives. ...
Suppose that you have deeply personal information that you do not want to share. Further suppose that this information could help others, perhaps even saving their lives. Should you reveal the information or keep it secret? With the increasing prevalence of genetic testing, more and more people are finding themselves in this situation. Although a patient's genetic results are potentially relevant to all her biological family members, her first‐degree relatives—parents, children, and full siblings—are most likely to be affected. This is especially true for genetic mutations—like those in the BRCA1 and BRCA2 genes—that are associated with a dramatically increased risk of disease. Fortunately, people are usually willing to share results with their at‐risk relatives. Occasionally, however, a patient refuses to disclose her findings to anyone outside her clinical team.
Ethicists have written little on patients’ moral duties to their at‐risk relatives. Moreover, the few accounts that have been advanced are problematic. Some unnecessarily expose patients’ genetic information to relatives who are unlikely to benefit from it, and others fail to ensure that patients’ most vulnerable relatives are informed of their genetic risks. Patients’ duty to warn can be defended in a way that avoids these problems. I argue that the duty to share one's genetic results is grounded in the principle of rescue—the idea that one ought to prevent, reduce, or mitigate the risk of harm to another person when the expected harm is serious and the cost or risk to oneself is sufficiently moderate. When these two criteria are satisfied, a patient will most likely have a duty to warn.
... Most forms of software that enable synchronous telecommunications have different levels of privacy settings which can be enabled or disabled -it is wise to check these and decide what you might want to be in the public domain. However, even with all privacy settings switched on, it is wise to be aware that no system of security is perfect and that any information and even private conversations could ultimately appear in the public domain [ 8 ] . It is best, therefore, to be on guard when using this technology and not do or say anything that you would not mind being in the public domain. ...
Background
Population-based DNA screening for medically actionable conditions has the potential to improve public health by enabling early detection, treatment and/or prevention; however, public attitudes and willingness to participate in DNA screening have not been well investigated.
Methods
We presented a scenario to members of the Australian public, randomly selected from the electoral roll via the Australian Survey of Societal Attitudes, describing an adult population DNA screening programme currently under development, to detect risk of medically actionable cancers and heart disease. We asked questions regarding willingness to participate and pay, preferred delivery methods and concerns.
Results
We received 1060 completed questionnaires (response rate 23%, mean age 58 years). The vast majority (>92%) expressed willingness to undertake DNA screening. When asked about the optimal age of screening, most (56%) favoured early adulthood (aged 18–40 years) rather than at birth or childhood. Many respondents would prefer samples and data be kept for re-screening (36%) or research use (43%); some preferred samples to be destroyed (21%). Issues that decrease likelihood of participation included privacy (75%) and insurance (86%) implications.
Conclusion
Our study demonstrates public willingness to participate in population DNA screening in Australia, and identifies barriers to participation, to be addressed in the design of screening programmes. Results are informing the development of a pilot national DNA screening programme.
Background:
Large amounts of capital are currently being invested in genomics companies across the "bench to clinic pipeline" - companies which are now shaping the future of biomedicine globally. Understanding the perspectives of people who work in such companies can contribute to shaping this industry in service of just and equitable futures of medicine.
Methods:
Using in-depth interviews as the primary method, this paper analyzes perspectives on ethical and social issues in private sector genomics expressed by members of the commercial genomics industry in the US.
Results:
Interviewees described a wide range of issues as pressing ethical concerns in commercial genomics. Key themes included concerns about diversity in genetic datasets, data governance and control, and pricing and profits in the industry. However, concern about diversity of datasets was not accompanied by expressions of concern about diversity in the industry workforce.
Conclusions:
Most interviewees described concerns in the industry that are rather removed from their own work. But along with this "ethical distancing," moral concerns appeared to be the basis for competition amongst companies - to attract both employees and customers. Research in business ethics suggests that expanding moral analysis of one's own work helps improve day to day decision-making in the interest of justice. Opening space for people to examine ethics in their own subsector may provide a means for the private sector genomics industry to become a leader in ethics in the biosciences and a model for equity in our current moment of late capitalism.
People with dementia have commonly been excluded from research. The adverse impacts of this exclusion are now being recognized and research literature, position statements, and ethics guidelines increasingly call for inclusion of people with dementia in research. However, few published studies investigate the views of potential participants on taking part in research should they experience dementia-related cognitive impairment. This cross-sectional survey examined the views of people aged sixty and older (n=174) attending hospital outpatient clinics about clinical research participation if they had dementia and impaired decision-making ability. Over 90 percent of respondents were agreeable to participating in a wide range of research activities, such as cognitive testing, physical measurements, imaging procedures, and blood draws. For drug studies, however, agreement dropped to 60 percent. Altruism was a strong motivator for research participation. In regard to who should be involved in decisions about their participation in research during periods of incapacity, respondents mostly preferred the person they appoint as their substitute decision-maker for healthcare matters (88%) or a doctor or health professional on the research team (78%). Over three-quarters (79%) expressed interest in making an advance research directive. The study findings are discussed in relation to law reforms in Australia that aim to strengthen respect and inclusion for people with impaired decision-making capacity, especially by providing frameworks for advance planning for research participation.
Background
Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components.
Methods
In combination with linkage analysis, we performed whole-genome sequencing of a sample obtained from a member of a multiplex family in whom multiple-system atrophy had been diagnosed on autopsy. We also performed mutational analysis of samples from members of five other multiplex families and from a Japanese series (363 patients and two sets of controls, one of 520 persons and one of 2383 persons), a European series (223 patients and 315 controls), and a North American series (172 patients and 294 controls). On the basis of these analyses, we used a yeast complementation assay and measured enzyme activity of parahydroxybenzoate-polyprenyl transferase. This enzyme is encoded by the gene COQ2 and is essential for the biosynthesis of coenzyme Q10. Levels of coenzyme Q10 in lymphoblastoid cells and brain tissue were measured on high-performance liquid chromatography.
Results
We identified a homozygous mutation (M128V-V393A/M128V-V393A) and compound heterozygous mutations (R387X/V393A) in COQ2 in two multiplex families. Furthermore, we found that a common variant (V393A) and multiple rare variants in COQ2, all of which are functionally impaired, are associated with sporadic multiple-system atrophy. The V393A variant was exclusively observed in the Japanese population.
Conclusions
Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ2 activities in the pathogenesis of this disease. (Funded by the Japan Society for the Promotion of Science and others.)
Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its potential for guiding treatment has been under-realized. We interrogated the complete genome sequences of a 14-year-old fraternal twin pair diagnosed with dopa (3,4-dihydroxyphenylalanine)-responsive dystonia (DRD; Mendelian Inheritance in Man #128230). DRD is a genetically heterogeneous and clinically complex movement disorder that is usually treated with l-dopa, a precursor of the neurotransmitter dopamine. Whole-genome sequencing identified compound heterozygous mutations in the SPR gene encoding sepiapterin reductase. Disruption of SPR causes a decrease in tetrahydrobiopterin, a cofactor required for the hydroxylase enzymes that synthesize the neurotransmitters dopamine and serotonin. Supplementation of l-dopa therapy with 5-hydroxytryptophan, a serotonin precursor, resulted in clinical improvements in both twins.
Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward research participation and sharing of genetic research data. Forty-nine individuals participated in 6 focus groups; 28 in 3 public focus groups and 21 in 3 NUgene biorepository participant focus groups. In the public focus groups, 75% of participants were women, 75% had some college education or more, 46% were African-American and 29% were Hispanic. In the NUgene focus groups, 67% of participants were women, 95% had some college education or more, and the majority (76%) of participants was Caucasian. Five major themes were identified in the focus group data: (a) a wide spectrum of understanding of genetic research; (b) pros and cons of participation in genetic research; (c) influence of credibility and trust of the research institution; (d) concerns about sharing genetic research data and need for transparency in the Policy for Sharing of Data in National Institutes of Health-Supported or Conducted Genome-Wide Association Studies; (e) a need for more information and education about genetic research. In order to increase public understanding and address potential concerns about genetic research, future efforts should be aimed at involving the public in genetic research policy development and in identifying or developing appropriate educational strategies to meet the public's needs.
To investigate empirically the motivations for not consenting to DNA biobanking in a Swedish population-based study and to discuss the implications.
Structured questionnaires and semistructured interviews.
A longitudinal epidemiological project (PART) ongoing since 1998 in Stockholm, Sweden. The DNA-collection wave took place during 2006-7.
903 individuals completed the questionnaire (participation rate 36%) and 23 were interviewed. All individuals had participated in both non-genetic waves of the project, but refused to contribute saliva samples during the DNA-collection wave.
Motivations behind refusing to consent to DNA biobanking, with subsequent focus on participants' explanations regarding this unwillingness.
Public refusal to consent to DNA biobanking, as revealed by the questionnaire, was mainly explained by a lack of personal relevance of DNA contribution and feelings of discomfort related to the DNA being used for purposes other than the respective study. Interviews of individuals representing the second motivation, revealed a significant mistrust of DNA biobank studies. The underlying beliefs and attitudes were associated with concerns about integrity, privacy, suspiciousness and insecurity. However, most interviewees were supportive of genetic research per se and interpreted their mistrust in the light of distressing environmental influences.
The results suggest a need for guidelines on benefit sharing, as well as trustworthy and stable measures to maintain privacy, as a means for increasing personal relevance and trust among potential participants in genetic research. Measures taken from biobanks seem insufficient in maintaining and increasing trust, suggesting that broader societal measures should be taken.
While the proliferation of human genetic information promises to achieve many public benefits, the acquisition, use, retention, and disclosure of genetic data threatens individual liberties. States (and to a lesser degree, the federal government) have responded to the anticipated and actual threats of privacy invasion and discrimination by enacting several types of genetic-specific legislation. These laws emphasize the differences between genetic information and other health information. By articulating these differences, governments afford genetic data an "exceptional" status. The authors argue that genetic exceptionalism is flawed for two reasons: (1) strict protections of autonomy, privacy, and equal treatment of persons with genetic conditions threaten the accomplishment of public goods; and (2) there is no clear demarcation separating genetic data from other health data; other health data deserve protections in a national health information infrastructure. The authors present ideas for individual privacy protections that balance the societal need for genetic information and the claims for privacy by individuals and families.
Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.
With a unique programme, the US government has managed to drive the cost of genome sequencing down towards a much-anticipated target.
Anonymity Compromised
The balance between maintaining individual privacy and sharing genomic information for research purposes has been a topic of considerable controversy. Gymrek et al. (p. 321 ; see the Policy Forum by Rodriguez et al. ) demonstrate that the anonymity of participants (and their families) can be compromised by analyzing Y-chromosome sequences from public genetic genealogy Web sites that contain (sometimes distant) relatives with the same surname. Short tandem repeats (STRs) on the Y chromosome of a target individual (whose sequence was freely available and identified in GenBank) were compared with information in public genealogy Web sites to determine the shortest time to the most recent common ancestor and find the most likely surname, which, when combined with age and state of residency identified the individual. When STRs from 911 individuals were used as the starting points, the analysis projected a success rate of 12% within the U.S. male population with Caucasian ancestry. Further analysis of detailed pedigrees from one collection revealed that families of individuals whose genomes are in public repositories could be identified with high probability.
This article outlines the arguments for and against new rules to protect
genetic privacy. We explain why genetic information is different to other
sensitive medical information, why researchers and biotechnology companies
have opposed new rules to protect genetic privacy (and favour anti-discrimination
laws instead), and discuss what can be done to protect privacy in relation
to genetic-sequence information and to DNA samples themselves.
One often encounters the idea that there is something special about genetic information, that it is somehow different from,
or more important than other health related information we can get about ourselves or other persons. There are conferences
and research projects dealing with genetic information that implicitly reaffirm this idea, and it is also prevalent in the
public debate where genetic tests are generally viewed with a mixture of awe and suspicion. But is there really something
special about genetic information, or are we just mislead by the fact that genetics is the latest in a long range of scientific
fields which have at different times captured public attention?
The disclosure of individual genetic results has generated an ongoing debate about which rules should be followed. We aimed to identify factors related to research participants' preferences about learning the results of genomic studies using their donated tissue samples. We conducted a cross-sectional survey of 279 patients from the United States and Spain who had volunteered to donate a sample for genomic research. Our results show that 48% of research participants would like to be informed about all individual results from future genomic studies using their donated tissue, especially those from the U.S. (71.4%) and those believing that genetic information poses special risks (69.7%). In addition, 16% of research participants considered genetic information to be riskier than other types of personal medical data. In conclusion, our study demonstrates that a high proportion of participants prefer to be informed about their individual results and that there is a higher preference among those research subjects who perceive their genetic information as riskier than other types of personal medical data.
The recent decision in the case Association for Molecular Pathology et al. v. United States Patent and Trademark Office et al. shocked the biotechnology industry. Although the case could be overturned on appeal, it will probably change how gene patents are written. The effects of the decision might be most strongly felt in the short term by clinical laboratories that develop new genetic tests based on single genes. However, evidence suggests that patents are less effective as an incentive to innovate in the field of genetic diagnostics than for pharmaceuticals. In addition, as genomic technologies move towards whole-genome analysis, policy arguments for patent protection for single genes become less compelling. It is clear that the intellectual property model challenged by the Myriad decision will have to be replaced if new genetic technologies are to achieve their full potential in promoting 'the progress of science and useful arts'.
Sharing study data within the research community generates tension between two important goods: promoting scientific goals and protecting the privacy interests of study participants. This study was designed to explore the perceptions, beliefs, and attitudes of research participants and possible future participants regarding genome-wide association studies and repository-based research.
Focus group sessions with (1) current research participants, (2) surrogate decision-makers, and (3) three age-defined cohorts (18-34 years, 35-50, >50).
Participants expressed a variety of opinions about the acceptability of wide sharing of genetic and phenotypic information for research purposes through large, publicly accessible data repositories. Most believed that making de-identified study data available to the research community is a social good that should be pursued. Privacy and confidentiality concerns were common, although they would not necessarily preclude participation. Many participants voiced reservations about sharing data with for-profit organizations.
Trust is central in participants' views regarding data sharing. Further research is needed to develop governance models that enact the values of stewardship.
Concerns about privacy may deter people from participating in genetic research. Recruitment and retention of biobank participants requires understanding the nature and magnitude of these concerns. Potential participants in a proposed biobank were asked about their willingness to participate, their privacy concerns, informed consent, and data sharing. A representative survey of 4659 U.S. adults was conducted. Ninety percent of respondents would be concerned about privacy, 56% would be concerned about researchers having their information, and 37% would worry that study data could be used against them. However, 60% would participate in the biobank if asked. Nearly half (48%) would prefer to provide consent once for all research approved by an oversight panel, whereas 42% would prefer to provide consent for each project separately. Although 92% would allow academic researchers to use study data, 80% and 75%, respectively, would grant access to government and industry researchers. Concern about privacy was related to lower willingness to participate only when respondents were told that they would receive $50 for participation and would not receive individual research results back. Among respondents who were told that they would receive $200 or individual research results, privacy concerns were not related to willingness. Survey respondents valued both privacy and participation in biomedical research. Despite pervasive privacy concerns, 60% would participate in a biobank. Assuring research participants that their privacy will be protected to the best of researchers' abilities may increase participants' acceptance of consent for broad research uses of biobank data by a wide range of researchers.
The commercialization of biotechnology, especially research and development by transnational pharmaceutical companies, is already excessive and is increasingly dangerous to distributive justice, human rights, and access of marginal populations to basic human goods. Focusing on gene patenting, this article employs the work of Margaret Jane Radin and others to argue that gene patenting ought to be more highly regulated and that it ought to be regulated with international participation and in view of concerns about solidarity and the common good. The mode of argument called for on this issue is more pragmatic than logical, emphasizing persuasion based on evidence about the reality and effects of control of genetic research by profit-driven biotech companies.
To date, over 5,000 applications have been filed with United States Patent Office for patents on human genes. More than 1,500 of these applications have been granted. Other jurisdictions are experiencing a similar rush to mine and protect genomic gold. This paper argues that although many jurisdictions allow the patenting of human genes, this is ethically indefensible and amounts to an unjustified appropriation of a general human heritage. Economic and legal arguments in favour of patenting are considered and rejected. Reference is made to the Wellcome Trust Consortium's initiative and the Merck Gene Index Project, which place patented genetic information into the public domain.
Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease or condition) are increasingly utilized to promote and improve the public's health. The proliferate use of genetic testing and screening may improve public health outcomes, but it also implicates significant ethical, legal, and social concerns. Within the context of conflicting ethical values from the individual and public health perspectives, individual values such as informed consent and privacy and discrimination protections must be respected. Legal and ethical attempts to exceptionalize genetic tests and information (as compared to other health information) to protect privacy and prevent discrimination are well intended, but can also be unjust and impractical. Respect for individual ethical rights has limits. Principles of public health ethics justify voluntary genetic testing and screening and sharing of data for population-based health purposes. Thus, individual rights should not always trump the use of genetic tests or screening programs (or information derived therefrom) for legitimate public health purposes.
A patent holder can choose to license a patented invention to others, can choose to use the patented invention exclusively itself, or can choose to prevent any use of the patented invention by itself or by others. In the gene patent area, the exclusive rights of the patent holder can raise the costs of genetic services, diminish the quality of genetic tests and treatments, and interfere with access to health care.
National Academy of Sciences. Tracing similarities and differences in our DNA. https://www.koshland-science-museum.org/sites
- Koshland Science
Koshland Science Museum, National Academy of Sciences. Tracing similarities and differences in our DNA. https://www.koshland-science-museum.org/sites/ all/exhibits/exhibitdna/intro03.jsp. Accessed 10 April 2014.
Comparative genomics. https:// www.genome.gov/11509542
- National Human
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National Human Genome Research Institute. Comparative genomics. https:// www.genome.gov/11509542. Accessed 10 April 2014.
Naked Genes: Reinventing the Human in the Molecular Age
- H Nowotny
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Just Genes: The Ethics of Genetic Technology
- C I Barash
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Online hunt for DNA compromises privacy
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Kolata G. Online hunt for DNA compromises privacy. New York Times. 18 January 2013, A15.
Genetic exceptionalism and ‘future diaries’: is genetic information different from other medical information?”
- Murray