Mobile devices with health apps, direct-to-consumer genetic testing, crowd-sourced information, and other data sources have enabled research by new classes of researchers. Independent researchers, citizen scientists, patient-directed researchers, self-experimenters, and others are not covered by federal research regulations because they are not recipients of federal financial assistance or conducting research in anticipation of a submission to the FDA for approval of a new drug or medical device. This article addresses the difficult policy challenge of promoting the welfare and interests of (...) research participants, as well as the public, in the absence of regulatory requirements and without discouraging independent, innovative scientific inquiry. The article recommends a series of measures, including education, consultation, transparency, self-governance, and regulation to strike the appropriate balance. (shrink)
Drawing on a landscape analysis of existing data-sharing initiatives, in-depth interviews with expert stakeholders, and public deliberations with community advisory panels across the U.S., we describe features of the evolving medical information commons. We identify participant-centricity and trustworthiness as the most important features of an MIC and discuss the implications for those seeking to create a sustainable, useful, and widely available collection of linked resources for research and other purposes.
Delivering high quality genomics-informed care to patients requires accurate test results whose clinical implications are understood. While other actors, including state agencies, professional organizations, and clinicians, are involved, this article focuses on the extent to which the federal agencies that play the most prominent roles — the Centers for Medicare and Medicaid Services enforcing CLIA and the FDA — effectively ensure that these elements are met and concludes by suggesting possible ways to improve their oversight of genomic testing.
In this paper, we explore the perspectives of expert stakeholders about who owns data in a medical information commons and what rights and interests ought to be recognized when developing a governance structure for an MIC. We then examine the legitimacy of these claims based on legal and ethical analysis and explore an alternative framework for thinking about participants' rights and interests in an MIC.
The individual right of access to one’s own data is a crucial privacy protection long recognized in U.S. federal privacy laws. Mobile health devices and research software used in citizen science often fall outside the HIPAA Privacy Rule, leaving participants without HIPAA’s right of access to one’s own data. Absent state laws requiring access, the law of contract, as reflected in end-user agreements and terms of service, governs individuals’ ability to find out how much data is being stored and how (...) it might be shared with third parties. Efforts to address this problem by establishing norms of individual access to data from mobile health research unfortunately can run afoul of the FDA’s investigational device exemption requirements. (shrink)
Regulatory policy for genomic testing may be subject to biases that favor reliance on existing regulatory frameworks even when those frameworks carry unintended legal consequences or may be poorly tailored to the challenges genomic testing presents. This article explores three examples drawn from genetic privacy regulation, oversight of clinical uses of genomic information, and regulation of genomic software. Overreliance on expedient regulatory approaches has a potential to undercut complete and durable solutions.
The informed consent process for genetic testing does not commonly address preferences regarding disclosure of results in the event of the patient's death. Adults being tested for familial colorectal cancer were asked whether they want their exome sequencing results disclosed to another person in the event of their death prior to receiving the results. Of 78 participants, 92% designated an individual and 8% declined to. Further research will help refine practices for informed consent.
Psychiatry is rapidly adopting digital phenotyping and artificial intelligence/machine learning tools to study mental illness based on tracking participants’ locations, online activity, phone and text message usage, heart rate, sleep, physical activity, and more. Existing ethical frameworks for return of individual research results (IRRs) are inadequate to guide researchers for when, if, and how to return this unprecedented number of potentially sensitive results about each participant’s real-world behavior. To address this gap, we convened an interdisciplinary expert working group, supported by (...) a National Institute of Mental Health grant. Building on established guidelines and the emerging norm of returning results in participant-centered research, we present a novel framework specific to the ethical, legal, and social implications of returning IRRs in digital phenotyping research. Our framework offers researchers, clinicians, and Institutional Review Boards (IRBs) urgently needed guidance, and the principles developed here in the context of psychiatry will be readily adaptable to other therapeutic areas. (shrink)
The genetic testing industry is in a period of potentially major structural change driven by several factors. These include weaker patent protections after Association for Molecular Pathology v. Myriad Genetics and Mayo Collaborative Services v. Prometheus Laboratories, Inc.; a continuing shift from single-gene tests to genome-scale sequencing; and a set of February 2014 amendments to the Clinical Laboratory Improvement Amendments of 1988 regulations and the Health Insurance Portability and Accountability Act Privacy Rule. This article explores the nature of these changes (...) and why they strain existing regulatory frameworks for protecting patients, research subjects, and other consumers who receive genetic testing.Oversight of genetic testing has, at least to date, had two major thrusts: privacy and ethical protections and traditional consumer health and safety regulations. Examples of the first are the Genetic Information Nondiscrimination Act and the HIPAA Privacy Rule, which after 2013 amendments expressly protects genetic privacy as well as other medical privacy. (shrink)
U.S. regulations do not afford consistent protections to human research subjects. One complaint is that they focus on federally sponsored research, with private research covered only if it falls under the jurisdiction of the Food and Drug Administration. This paper examines a deeper problem: Even when the regulations do apply, they still do not afford consistent standards of protection. The U.S. Common Rule and related FDA regulations lack a workable regulatory control mechanism.