As the federal government continues to expand upon and improve its data sharing policies over the past 20 years, complex challenges remain. Our interviews with U.S. academic genetic researchers (n=23) found that the burden, translation, industry limitations, and consent structure of data sharing remain major governance challenges.

Recently, John Doe, an undocumented immigrant who was detained by United States Immigration and Customs Enforcement (ICE), 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.

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.

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.

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.

In this paper, we explore the perspectives of expert stakeholders about who owns data in a medical information commons (MIC) 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.

A medical information commons (MIC) 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.

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 (MIC). 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.

Making data broadly accessible is essential to creating a medical information commons (MIC). 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.

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.

There is a national movement supporting the retention and use of bio-specimens from deceased individuals for the purpose of genetic testing. This manuscript discusses the significance of postmortem genetic testing in the context of death determination by medical examiners (i.e., public molecular autopsies). We highlight distinctive concerns that are raised in the areas of consent, confidentiality, and return of results when genetic testing is performed as part of a public molecular autopsy. We believe our manuscript will contribute to the development of a robust ethical and legal framework for genetic testing in this context.

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

In 1996, President Clinton offered a promissory vision for human genetics when he said: “I think it won't be too many years before parents will be able to go home from the hospital with their newborn babies with a genetic map in their hands that will tell them, here's what your child's future will likely be like.”

The rapid evolution of genetic sequencing technologies has advanced that vision. In October 2006, the cost of sequencing an entire human genome was $10.4 million; by 2014 the cost had decreased a thousand fold. The term next generation sequencing (NGS) describes a variety of laboratory methods that allow efficient determination of the precise order of nucleotides in a DNA sequence. The papers in this issue of the Journal of Law, Medicine & Ethics focus on “clinical NGS,” which refers to rapid DNA sequencing using second-, third- and fourth-generation sequencing technologies to perform genome-wide sequencing of multiple genes or alleles for clinical prognostic, diagnostic, and therapeutic purposes.

Increasingly, genomic analysis is being utilized to diagnose children with developmental delay or dysmorphic facial features suggestive of a congenital disorder. Genetic testing has rapidly evolved, and the genome-wide tests that we use today are significantly different from the more targeted single-gene tests of the last decade. Chromosomal microarray analysis (CMA) is now a first line test for children with multiple birth defects, children with intellectual impairment (including autism), and children with an unusual constellation of symptoms that do not fit with a known disease. There are three types of CMA that are currently clinically available. CMA by oligonucleotide array-based comparative genomic hybridization (aCGH) compares the hybridization signal from the patient's DNA to that of a reference DNA sample for each oligonucleotide on the array. Depending on the specific array, this can range from tens of thousands to hundreds of thousands of oligonucleotides.

Understanding of the human genome and its functional significance has increased exponentially since the completion of the Human Genome Project (HGP) in 2003. The HGP fueled the discovery of more than 1,800 disease genes and paved the way for researchers to identify and test for genes suspected of causing inherited diseases. Currently, there are more than 1000 genetic tests for human diseases and conditions on the market. These tests can play an integral role in the delivery of health care by providing information that could potentially form the basis for profound life decisions, such as whether to undergo a prophylactic mastectomy, whether to terminate a pregnancy, or whether to take a particular drug or medication dose.

The promise of personalized medicine and the quest for a greater understanding of the genetic basis of disease has transformed the research enterprise. The Director of the National Institutes of Health (NIH), Elias A. Zerhouni, M.D., recently predicted “that comprehensive, genomics- based health care will become the norm, with individualized preventive medicine and early detection of illnesses.” This excitement about the potential scientific and clinical advances that may come from genomics- based research has led several NIH institutions to launch initiatives for genome-wide association studies (GWAS), calling on researchers and institutions to utilize the new DNA analysis technologies to study the genetic variation between individuals with a particular illness and healthy controls.