How Should Primary Care Physicians Respond to Direct-to-Consumer Genetic Test Results?
AMA J Ethics. 2018 09 01;20(9):E812-818
Authors: Brothers KB, Knapp EE
In this case, a primary care physician is presented with direct-to-consumer genetic test results and asked to provide counseling and order follow-up diagnostics. In order to deal effectively with this situation, we suggest physicians need look no further than the practice principles that guide more routine clinical encounters. We examine the rationale behind 2 major clinical ethical considerations: (1) physicians have obligations to help their patients achieve reasonable health goals but are not obligated to perform procedures that are not medically indicated; and (2) primary care physicians do not need to know everything; they just need to know how to get their patients appropriate care.
PMID: 30242811 [PubMed – indexed for MEDLINE]
From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.
AJOB Empir Bioeth. 2019 Dec 30;:1-14
Authors: Savard J, Hickerton C, Metcalfe SA, Gaff C, Middleton A, Newson AJ
Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability, and health. PGT is increasingly accessible online, including in emerging markets such as Australia. Little is known about what consumers expect from these tests and whether their reflections on testing resonate with bioethics concepts such as autonomy.Methods: We report findings from focus groups and semi-structured interviews that explored attitudes to and experiences of PGT. Focus group participants had little experience with PGT, while interview participants had undergone testing. Recordings were transcribed and analyzed using thematic analysis. Findings were critically interpreted with reference to bioethics scholarship on autonomy.Results: Fifty-six members of the public participated in seven focus groups, and 40 individuals were interviewed separately. Both groups valued the choice of PGT, and believed that it could motivate relevant actions. Focus group themes centered on the perceived value of choices, knowledge enabling action and knowledge about the self. Interview themes suggest that participants reflexively engage with their PGT information to make meaning, and that some appreciate its shortcomings. Critical interpretation of findings shows that while consumers of PGT are able to exercise a degree of autonomy in choosing, they may not be able to achieve a substantive conceptualization of autonomy, one that promotes alignment with higher-order desires.Conclusions: PGT consumers can critically reason about testing. However, they may uncritically accept test results, may not appreciate drawbacks of increased choice, or may overestimate the potential for information to motivate behavioral change. While consumers appear to be capable of substantive autonomy, they do so without ongoing support from companies. PGT companies promote a problematic (“default”) account of autonomy, reliant on empowerment rhetoric. This leaves consumers vulnerable to making decisions inconsistent with their higher-order desires. As PGT expands, claims about its power and value need to be carefully drawn.
PMID: 31885332 [PubMed – as supplied by publisher]
A survey of U. S. state insurance commissioners concerning genetic testing and life insurance: Redux at 27.
J Genet Couns. 2019 Dec 18;:
Authors: Golinghorst DR, Prince AER
Nearly three decades ago, scientists set out on one of the largest research endeavors in modern history-mapping the human genome. The research not only sparked new technologies and genetic tests, but also concomitant concerns regarding ethical, legal, and social implications of the technologies. These developments ultimately resulted in an expanded role for genetic counselors to educate consumers about the possible consequences of receiving genetic test results. In particular, many individuals undergoing testing worry that the resulting information could be used by social actors, such as life insurers, in harmful ways. Because life insurance is regulated at the state level, there is significant variability across the United States in laws and enforcement protecting consumers’ genetic information. This article reports the results of a survey of U.S. state insurance commissioners regarding regulation of genetic testing and life insurance. The survey builds on a 1992 survey conducted by Jean E. McEwen et al. It returns to current U.S. state insurance commissioners to investigate changes in the climate surrounding genetic information use and risks of misuse within the insurance industry. In their 1992 survey, McEwen et al. found that: (a) genetic testing was not yet perceived to pose a significant problem for insurance rating, (b) life insurers had quite a bit of legal freedom to require and use genetic test results, and (c) insurance commissioners had received few consumers’ complaints about the use of genetic information. Twenty-seven years later, our survey finds an increase in regulation protecting genetic information in insurance, but at a pace much slower than that of advances in new DNA technologies. This lag in policy to match technology increases potential risks for consumers. Our study further reveals certain inconsistencies in the letter of state law protecting consumers’ genetic information and how state insurance commissioners apply that law. The study also shows that despite empirical evidence in the literature demonstrating consumer fear about genetic discrimination, consumers do not report these concerns to their state insurance commissioner. We suggest genetic counselors are key stakeholders who can help fill current gaps between consumers and the insurance industry.
PMID: 31850620 [PubMed – as supplied by publisher]
Consumer (dis-)interest in Genetic Ancestry Testing: The roles of race, immigration, and ancestral certainty.
New Genet Soc. 2019;38(2):165-194
Authors: Horowitz AL, Saperstein A, Little J, Maiers M, Hollenbach JA
Genetic ancestry testing (GAT) is marketed as a way to make up for missing knowledge about one’s ancestry. Previous research questions the GAT industry’s ability to fulfill this promise in terms of the validity and reliability of test results. We instead explore the demand side of GAT, evaluating who is most and least likely to express interest in GAT. Using data from an original, nationwide survey of over 100,000 American adults, we find that GAT interest is related to both self-identified race and immigrant generation, with Asian Americans and first-generation immigrants expressing the least interest. Our quantitative and qualitative evidence suggests interest is further shaped by a pre-existing sense of ancestral certainty, leading some individuals to decline GAT, even if it were free. How interest and ancestral certainty are patterned has implications for who is included in – and thus for the conclusions that can be drawn from – genetic ancestry databases.
PMID: 31814797 [PubMed]
Donors, authors, and owners: how is genomic citizen science addressing interests in research outputs?
BMC Med Ethics. 2019 Nov 21;20(1):84
Authors: Guerrini CJ, Lewellyn M, Majumder MA, Trejo M, Canfield I, McGuire AL
BACKGROUND: Citizen science is increasingly prevalent in the biomedical sciences, including the field of human genomics. Genomic citizen science initiatives present new opportunities to engage individuals in scientific discovery, but they also are provoking new questions regarding who owns the outputs of the research, including intangible ideas and discoveries and tangible writings, tools, technologies, and products. The legal and ethical claims of participants to research outputs become stronger-and also more likely to conflict with those of institution-based researchers and other stakeholders-as participants become more involved, quantitatively and qualitatively, in the research process. It is not yet known, however, how genomic citizen science initiatives are managing the interests of their participants in accessing and controlling research outputs in practice. To help fill this gap, we conducted an in-depth review of relevant policies and practices of U.S.-based genomic citizen science initiatives.
METHODS: We queried the peer-reviewed literature and grey literature to identify 22 genomic citizen science initiatives that satisfied six inclusion criteria. A data collection form was used to capture initiative features, policies, and practices relevant to participants’ access to and control over research outputs.
RESULTS: This analysis revealed that the genomic citizen science landscape is diverse and includes many initiatives that do not have institutional affiliations. Two trends that are in apparent tension were identified: commercialization and operationalization of a philosophy of openness. While most initiatives supported participants’ access to research outputs, including datasets and published findings, none supported participants’ control over results via intellectual property, licensing, or commercialization rights. However, several initiatives disclaimed their own rights to profit from outputs.
CONCLUSIONS: There are opportunities for citizen science initiatives to incorporate more features that support participants’ access to and control over research outputs, consistent with their specific objectives, operations, and technical capabilities.
PMID: 31752834 [PubMed – in process]
Direct to consumer genetic testing and the libertarian right to test.
J Med Ethics. 2018 11;44(11):787-789
Authors: Bonython WE, Arnold BB
Loi recently proposed a libertarian right to direct to consumer genetic testing (DTCGT)- independent of autonomy or utility-reflecting Cohen’s work on self-ownership and Hohfeld’s model of jural relations. Cohen’s model of libertarianism dealt principally with self-ownership of the physical body. Although Loi adequately accounts for the physical properties of DNA, DNA is also an informational substrate, highly conserved within families. Information about the genome of relatives of the person undergoing testing may be extrapolated without requiring direct engagement with their personal physical copy of the genome, triggering rights and interests of relatives that may differ from the rights and interests of others, that is, individual consumers, testing providers and regulators. Loi argued that regulatory interference with exercise of the right required justification, whereas prima facie exercise of the right did not. Justification of regulatory interference could include ‘conflict with other people’s rights’, ‘aggressive’ use of the genome and ‘harming others’. Harms potentially experienced by relatives as a result of the individual’s exercise of a right to test include breach of genetic privacy, violation of their right to determine when, and if, they undertake genetic testing and discrimination. Such harms may justify regulatory intervention, in the event they are recognised; motives driving ‘aggressive’ use of the genome may also be relevant. Each of the above criteria requires clarification, as potential redundancies and tensions exist between them, with different implications affecting different groups of rights holders.
PMID: 28824006 [PubMed – indexed for MEDLINE]
Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners.
Am J Hum Genet. 2019 02 07;104(2):197-202
Authors: Wright EA, Wagner JK, Shriver MD, Fernandez JR, Jablonski NG
Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during two-week science summer camps for middle-school-aged youth. Our research focused on how the examination of personalized DNA results affected learners’ subsequent perceptions and performance, as measured by in-camp pre- and post-tests and surveys, analysis of voluntary student talk captured by audio and video recordings, and periodic one-on-one post-camp follow-ups. The curriculum was grounded in Next Generation Science Standards (NGSS) and focused around the central question of “Who am I?” Campers approached this question via guided lessons designed to shed light on their genetic uniqueness, the many attributes of their genotype and phenotype shared with others, their more distant genetic and evolutionary ancestries, and their roles as active agents in the healthy continuation of their lives. Data relevant to these questions came from edited subsets of ancestry-informative single-nucleotide polymorphisms (SNPs) and phenotype-related SNPs from the campers’ genotype results, which their parents had received from a direct-to-consumer vendor. Our approaches to data privacy and the discovery, disclosure, and discussion of sensitive information on paternity, carrier status, and ancestry can be usefully applied and modified for many educational contexts. On the basis of our pilot implementations, we recommend additional and expanded research on how to incorporate personalized genetic ancestry information in a variety of learning contexts.
PMID: 30735660 [PubMed – indexed for MEDLINE]
DNA Data Marketplace: An Analysis of the Ethical Concerns Regarding the Participation of the Individuals.
Front Genet. 2019;10:1107
Authors: Ahmed E, Shabani M
Personal genomic data and the related health data are valuable resources for both public-funded research, and for-profit entities in development of new drugs, therapies, and diagnostic tests. In order to access to large datasets, pharmaceutical and biotech companies have developed partnerships with public and private entities such as direct-to-consumer genetic testing companies to buy genomic and health related databases collected from research participants and customers. Although individuals mainly support data sharing for research purposes, the for-profit nature of such data sharing raises some questions regarding the rights of the data subjects and fairness in sharing benefits. In response, a new generation of sequencing and data sharing startups such as Nebula Genomics, LunaDNA, and EncrypGen are emerging which aim for leaving the data control in the hands of each individual customer. In particular, such so-called “DNA data marketplaces” allow individuals to receive various types of monetary incentives to sequence their genome and share it with interested commercial parties. This paper aims to provide an exploratory and critical review of the ethical challenges related to establishing such marketplaces for genomic and health data sharing. In the view of the growing number of startups developing such marketplaces, a thorough analysis of the relevant ethical concerns is timely and needed.
PMID: 31749843 [PubMed]