Sci Transl Med 14 August 2013:
Vol. 5, Issue 198, p. 198ed12
Sci. Transl. Med. DOI: 10.1126/scitranslmed.3005797
Vol. 5, Issue 198, p. 198ed12
Sci. Transl. Med. DOI: 10.1126/scitranslmed.3005797
Regulating Genomics: Time for a Broader Vision
- Effy Vayena* is a senior research fellow at the Institute of Biomedical Ethics, University of Zurich, Switzerland.
- Barbara Prainsack is an associate professor at the Department of Social Science, Health, and Medicine at King’s College London, UK.
In 2010, the U.S. Government Accountability Office painted a grim picture of direct-to-consumer (DTC) genetic services that fueled debates and signaled regulatory action (www.gao.gov/products/GAO-10-847T). Now, online genetics services that offer tests to users without the involvement of a clinician have become a bone of contention in Europe as well. At the same time, European bioethics commissions and professional bodies are grappling with ethical and legal concerns. In 2012, the European Academies of Science Advisory Council (EASAC) and the Federation of European Academies of Medicine (FEAM) jointly published a report that addresses scientific, regulatory, and ethical issues related to DTC genetic testing for health purposes. This report—the farthest-reaching one thus far in terms of organizations and countries represented—set out to pursue a balanced approach that avoids both overregulation and “relinquishing strategy-setting to the private sector” (www.easac.eu).
The EASAC/ FEAM Report poses a pertinent question: Should nucleic acid–based tests be regulated differently from other biomarker-based susceptibility tests? This question will become more pressing as platforms and repositories increasingly integrate genetic, genomic, and other-omic data with environmental and personal data sets. The report’s recommendations take a step toward a comprehensive governance framework that addresses all medical tests, which is a welcome and timely departure from genetic exceptionalism. Further, the report highlights the need to provide incentives for DTC companies to self-regulate (that is, to provide accurate information about their services) and for a systematic assessment of the costs that DTC testing is likely to impose on established health services.
Beyond these contributions, the report largely revisits well-rehearsed concerns about DTC testing. The core conclusions are that DTC genetic testing has little clinical value, is potentially harmful, and, therefore, requires “an appropriate and relevant level of professional advice.” Moreover, tests for high-penetrance genotypes, any kind of genetic prenatal screening and carrier testing in children, and the testing of the DNA of third parties should not be available in a DTC format; nutrigenomics testing should be discouraged; and pharmacogenetic testing should not be offered for the time being, out of concern that patients may make decisions about medication based on such test results (such as dose adjustment). Although potential harm to users appears to be the backbone of the argument for restrictive DTC regulation, little evidence supporting this claim is provided. In fact, recently published research on this issue, although inconclusive, did not report harmful outcomes in the studied cohorts (1, 2).
The report’s conclusions closely resemble, in spirit, existing recommendations for regulation of online genomic testing services. One explanation for the missed opportunity to break new ground is the report’s fundamental assumption that genetic information belongs exclusively to the ring-fenced area of medical practice. However, this view no longer accurately depicts reality. The range of Web-based platforms that offer genetic testing services (such as 23andMe.com, biologis.com) or treatment advice at least partly on the basis of genetic information is continuously expanding. Online genetic services currently range from the complete bypassing of medical professionals to the incorporation of genetic counseling to varying degrees of physician involvement. Thus, the term “beyond-the-clinic (BTC) genetics” better describes what is now known as DTC genetic testing. Besides serving as a more encompassing label under which the various forms of interaction among service providers, users, and medical professionals can be subsumed, the concept of BTC genetics also captures the notion that the boundaries between genetics in and outside of the clinic are blurring (3). It also hints at additional uses genetic information may have outside the clinic that contribute to a broader understanding of well-being that transcends clinical definitions of health.
The report almost entirely avoids addressing the larger implications of these societal shifts. This view reflects a conventional image of typical patients as those who consult time-rich medical professionals whenever “they have symptoms or are at known increased risk.” As a consequence, a large part of the report focuses on the imperative of genetic counseling. Genetic counseling in a clinical setting can undoubtedly be helpful for those who actively seek it. However, no conclusive evidence exists to show that those using BTC genetic services suffer harm if they do not undergo genetic counseling (1). There is a general concern about how individuals respond to genetic risk information; but the REVEAL study, for example, did not find increased psychological risk associated with APOE genotyping results for Alzheimer’s disease (4). More recently, mounting evidence shows that individuals have a strong interest in playing an active role in health-related decisions, controlling their health information, and being arbitrators when medical opinions conflict (5). The use of online social networks with a health focus, the growing uptake of self-tracking practices, and numerous health apps for smart phones and tablet computers illustrate a growing trend toward participation of patients in disease prevention, diagnosis, treatment, and monitoring (6). Further evidence of this shift is found in initiatives aimed at using mobile technology to promote patient engagement globally, including in low-resource settings (www.who.int/mediacentre/news/releases/2012/mHealth_20121017/en/index.html). Community engagement using Web-based forums (for example, curetogether.com and Quantified Self) is not limited to the financially well-off or technologically savvy. Many platforms now allow people with only rudimentary Internet skills to engage in health-related activities via their computers or smart phones. Undergoing BTC genetic testing may be another expression of health-related community engagement, a movement that enhances health literacy and enables individuals to make informed decisions about health care options and clinical research participation.
Integration of genomic technologies within clinical practice is happening at a slow pace. Most physicians lack adequate training in genomic medicine, yet many people still wish to explore options that complement the standard basis for decisions about prevention, diagnosis, or treatment. It is also becoming increasingly difficult to distinguish medical data and information from their nonmedical counterparts. For example, should the data that women collect on menstruation-tracking apps be regarded as the collection of medical information? After all, these longitudinal data may possess clinical utility when used by medical specialists in the diagnosis of fertility problems. A similar argument could be made for electronic mood, pain, or diet data collected by patients and later used by their physicians for treatment guidance.
These trends weave the broader social canvas on which genetic developments are taking place. Regulations designed to protect patients’ well-being and right to autonomy and self-determination must also give people the opportunity to access potentially useful information without prejudicing their personal understanding of its utility. The report’s surprising call to prohibit pregnant women from DTC testing is at odds with this objective. We are left wondering what justifies limiting a pregnant woman’s choices as to the information she can obtain about herself. If this restriction of her freedom is aimed at protecting the unborn child, this purpose needs to be spelled out and justified. If it is not—which is unclear in the report—then the restriction may be emblematic of a general inattentiveness to the significance of the less-conventional types of utility genomic information may possess for individuals. Moreover, it signals a reluctance to acknowledge the broader trends that will affect us as individuals and as a society.
The report rightly proposes tighter regulation of the advertisement of DTC genetic tests to consumers. The objective of this mandate is to ensure presentation of accurate information and clearly falls within the remit of consumer protection. However, complete consumer protection also includes the opportunity to make health care choices that arise from the information. As genomic knowledge advances, broader health literacy is becoming an urgent issue. Prohibiting certain groups from accessing genetic-testing services outside of the traditional clinical setting is not an approach that serves this goal.
Human genetics is a research area that readily attracts public attention, and the resulting momentum can be reinforced by using genetic information in effective ways to deliver higher-quality health care. This means abandoning several assumptions that structure much of our thinking about health and disease, namely that: (i) genetic information is used and interpreted in isolation; (ii) clinical and nonclinical contexts (for example, data in an individual’s personal domain) can be clearly separated; and (iii) regulators can differentiate between data that are health-relevant and those that are not.
Already, personal health data have begun to travel between clinical and nonclinical domains and assume various functions on their journeys. This trend must be acknowledged and its potential harnessed. Regulation should focus on facilitating the integration of these data into medical research and practice while limiting undesirable consequences. Genetic-data integration is still hampered by technological hurdles and privacy concerns. Health data cannot flow easily between research settings, medical institutions, and clinical records. Yet the linking of such data is instrumental for the advancement of translational medicine. Striking the right balance between privacy protection and data integration will require regulation that treats privacy as one continuous issue across the life cycle of health data irrespective of where they are generated or for what purpose. The focus should not be on preventing data availability but on how to protect the agency and needs of patients. For example, many countries have enacted genetic nondiscrimination regulations related to the use of genetic information by employers and health insurance; but life insurance, long-term care insurance, disability insurance, or policies above a certain insurance sum are often not covered under such regulation.
Discussions and regulatory efforts should also center on consequences of the now-increasing responsibility of individuals in managing their own health. Protecting the well-being of individuals should be compatible with allowing them to make informed choices about health care options and data sharing.
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