Human genomics is a translational field spanning research, clinical care, public health, and direct-to-consumer testing. However, law differs across these domains on issues including liability, consent, promoting quality of analysis and interpretation, and safeguarding privacy. Genomic activities crossing domains can thus encounter confusion and conflicts among these approaches. This paper suggests how to resolve these conflicts while protecting the rights and interests of individuals sequenced. Translational genomics requires this more translational approach to law.
A 2011 National Academies of Sciences report called for an “Information Commons” and a “Knowledge Network” to revolutionize biomedical research and clinical care. We interviewed 41 expert stakeholders to examine governance, access, data collection, and privacy in the context of a medical information commons. Stakeholders' attitudes about MICs align with the NAS vision of an Information Commons; however, differences of opinion regarding clinical use and access warrant further research to explore policy and technological solutions.
Advances in technologies and biomedical informatics have expanded capacity to generate and share biomedical data. With a lens on genomic data, we present a typology characterizing the data-sharing landscape in biomedical research to advance understanding of the key stakeholders and existing data-sharing practices. The typology highlights the diversity of data-sharing efforts and facilitators and reveals how novel data-sharing efforts are challenging existing norms regarding the role of individuals whom the data describe.
Making data broadly accessible is essential to creating a medical information commons. Transparency about data-sharing practices can cultivate trust among prospective and existing MIC participants. We present an analysis of 34 initiatives sharing DNA-derived data based on public information. We describe data-sharing practices captured, including practices related to consent, privacy and security, data access, oversight, and participant engagement. Our results reveal that data-sharing initiatives have some distance to go in achieving transparency.
Purpose: This study explores social networkers' interest in and attitudes toward personal genome testing (PGT), focusing on expectations related to the clinical integration of PGT results. Methods: An online survey of 1,087 social networking users was conducted to assess 1) use and interest in PGT; 2) attitudes toward PGT companies and test results; and 3) expectations for the clinical integration of PGT. Descriptive statistics were calculated to summarize respondents' characteristics and responses. Results: Six percent of respondents have used PGT, 64% (...) would consider using PGT, and 30% would not use PGT. Of those who would consider using PGT, 74% report they would use it to gain knowledge about disease in their family. 34% of all respondents consider the information obtained from PGT to be a medical diagnosis. 78% of those who would consider PGT would ask their physician for help interpreting test results, and 61% of all respondents believe physicians have a professional obligation to help individuals interpret PGT results. Conclusion: Respondents express interest in using PGT services, primarily for purposes related to their medical care and expect physicians to help interpret PGT results. Physicians should therefore be prepared for patient demands for information and counsel on the basis of PGT results. (shrink)
Recently, John Doe, an undocumented immigrant who was detained by United States Immigration and Customs Enforcement, was admitted to a hospital off-site from a detention facility. Custodial officers accompanied Mr. Doe into the exam room and refused to leave as physicians examined him. In this analysis, we examine the ethical dilemmas this case brings to light concerning the treatment of patients in immigration detention and their rights to privacy. We analyze what US law and immigration detention standards allow regarding immigration (...) enforcement or custodial officers' presence in medical exams and documentation of detainee health information. We describe the ethical implications of the presence of officers in medical exam rooms, including its effects on the quality of the patient-provider relationship, patient privacy and confidentiality, and provider's ability to provide ethical care. We conclude that the presence of immigration enforcement or custodial officers during medical examination of detainees is a breach of the right to privacy of detainees who are not an obvious threat to the public. We urge ICE and the US Department of Homeland Security to clarify standards for and tighten enforcement around when officers are legally allowed to be stationed in medical exam rooms and document detainees' information. (shrink)
As citizen science expands, questions arise regarding the applicability of norms and policies created in the context of conventional science. This article focuses on data sharing in the conduct of health-related citizen science, asking whether citizen scientists have obligations to share data and publish findings on par with the obligations of professional scientists. We conclude that there are good reasons for supporting citizen scientists in sharing data and publishing findings, and we applaud recent efforts to facilitate data sharing. At the (...) same time, we believe it is problematic to treat data sharing and publication as ethical requirements for citizen scientists, especially where there is the potential for burden and harm without compensating benefit. (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.
A medical information commons is a networked data environment utilized for research and clinical applications. At three deliberations across the U.S., we engaged 75 adults in two-day facilitated discussions on the ethical and social issues inherent to sharing data with an MIC. Deliberants made recommendations regarding opt-in consent, transparent data policies, public representation on MIC governing boards, and strict data security and privacy protection. Community engagement is critical to earning the public's trust.
While the bioethics literature demonstrates that the field has spent substantial time and thought over the last four decades on the goals, methods, and desired outcomes for service and training in bioethics, there has been less progress defining the nature and goals of bioethics research and scholarship. This gap makes it difficult both to describe the breadth and depth of these areas of bioethics and, importantly, to gauge their success. However, the gap also presents us with an opportunity to define (...) this scope of work for ourselves and to help shape the broader conversation about the impact of academic research. Because of growing constraints on academic funding, researchers and scholars in many fields are being asked to demonstrate and also forecast the value and impact of their work. To do that, and also to satisfy ourselves that our work has meaningful effect, we must understand how our work can motivate change and how that change can be meaningfully measured. In a field as diverse as bioethics, the pathways to and metrics of change will likewise be diverse. It is therefore critical that any assessment of the impact of bioethics research and scholarship be informed by an understanding of the nature of the work, its goals, and how those goals can and ought to be furthered. In this paper, we propose a conceptual model that connects individual bioethics projects to the broader goals of scholarship, describing the translation of research and scholarly output into changes in thinking, practice, and policy. One of the key implications of the model is that impact in bioethics is generally the result of a collection of projects rather than of any single piece of research or scholarship. Our goal is to lay the groundwork for a thoroughgoing conversation about bioethics research and scholarship that will advance and shape the important conversation about their impact. (shrink)
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.
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. 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. 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. 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. (shrink)
Background Continued advances in human microbiome research and technologies raise a number of ethical, legal, and social challenges. These challenges are associated not only with the conduct of the research, but also with broader implications, such as the production and distribution of commercial products promising maintenance or restoration of good physical health and disease prevention. In this article, we document several ethical, legal, and social challenges associated with the commercialization of human microbiome research, focusing particularly on how this research is (...) mobilized within economic markets for new public health uses. Methods We conducted in-depth, semi-structured interviews (2009–2010) with 63 scientists, researchers, and National Institutes of Health project leaders (“investigators”) involved with human microbiome research. Interviews explored a range of ethical, legal, and social dimensions of human microbiome research, including investigators’ perspectives on commercialization. Using thematic content analysis, we identified and analyzed emergent themes and patterns. Results Investigators discussed the commercialization of human microbiome research in terms of (1) commercialization, probiotics, and issues of safety, (2) public awareness of the benefits and risks of dietary supplements, and (3) regulation. Conclusion The prevailing theme of ethical, legal, social concern focused on the need to find a balance between the marketplace, scientific research, and the public’s health. The themes we identified are intended to serve as points for discussions about the relationship between scientific research and the manufacture and distribution of over-the-counter dietary supplements in the United States. (shrink)
The return of genetic research results after death in the pediatric setting comes with unique complexities. Researchers must determine which results and through which processes results are returned. This paper discusses the experience over 15 years in pediatric cancer genetics research of returning research results after the death of a child and proposes a preventive ethics approach to protocol development in order to improve the quality of return of results in pediatric genomic settings.