By Susan M. Wolf
Genome and exome sequencing are generating a flood of genetic information about research participants and patients. That information is typically regarded as private, and both researchers and clinicians have stringent responsibilities to protect confidentiality. But families are beginning to come forward, asking whether individual genomic information about family members who have been research participants or patients has implications for their own health. Researchers and clinicians are increasingly facing a tough choice – do they protect the privacy of the research subject or patient’s genomic information, or do they share that information with relatives?
Individuals who have a certain mutation in the BRCA1 and BRCA2 genes, for example, are at higher risk for breast and ovarian cancer. Or they may carry the variant for malignant hyperthermia, placing them at risk for a potentially catastrophic reaction to a commonly used anesthetic. There are any number of genetic variants that may be discovered in the individual sequenced that have potential health importance to relatives, as first-degree biological relatives commonly share 50 percent of their genes.
These issues may also arise after the death of the research participant or patient. Genomic research now commonly involves archiving data and specimens for long periods of time to facilitate continued research. Especially in cancer genomic research, the individual sequenced may die, leaving relatives concerned about their own risk. Yet the main federal law protecting the privacy of health information in the U.S., the Health Insurance Portability and Accountability Act (HIPAA), protects the privacy of health information for 50 years after an individual’s death.
These cutting-edge issues about sharing an individual’s sequencing results including after death are a new and important twist on a debate pioneered by the University of Minnesota’s Consortium on Law and Values in Health, Environment & the Life Sciences. Starting in 2005, the Consortium has been awarded a series of NIH grants to analyze the issues involved in return of results and incidental findings to research participants themselves. “Results” are the genomic data sought in the research, while “incidental findings” are additional important findings that researchers may stumble upon in performing their analysis, a surprisingly common scenario. Consortium work has had a major impact, shaping the national debate on return of results and incidental findings to research participants. Now the Consortium is mapping the new issues raised by requests from relatives.
Starting in 2011, Consortium researchers, have partnered with investigators at the Mayo Clinic and University of California, San Francisco – Gloria Petersen, Ph.D., and Barbara Koenig, Ph.D. – to analyze the problem of return of results to family. Aided by a blue-ribbon group of consultants from across the U.S. and Canada, they have been working to collect empirical data and generate recommendations. On Nov. 6, 2014, the Consortium hosted a major national conference convening law and ethics scholars, genomics researchers, federal policymakers and others to address these pressing problems and devise solutions. Presenters broke new ground on core issues:
- Does genomic information belong to an entire family? What if an individual asks for their genomic information to be kept private? Do those privacy preferences lose force when the person dies?
- Should children and adolescents be able to decide whether their genomic information is shared within the family?
- Should researchers be required to track down relatives if a genomic variant confers high risk of a disease that is both serious and treatable?
- How would large-scale sharing with families work, and how should it be funded?
- How should the approach to sharing with family differ in clinical and research settings?
- How much do we know about preferences for sharing in different population groups?
The conference was supported by a grant by the National Institutes of Health (National Cancer Institute and National Human Genome Research Institute). The conclusions of the NIH-funded project group and additional conference papers will be published in the Fall 2015 issue of the Journal of Law, Medicine & Ethics.
The project recommendations are likely to have a big impact. More and more families will face these issues. Families, researchers and clinicians need to start talking about who will get access to genomic results, including after an individual dies. We plan who gets our property after death. We need to start planning who will get our genomic data.
Learn more about the conference discussions at:
Genomic research stirs privacy debate, Minneapolis Star Tribune
Health, privacy: A tricky balance, Minnesota Daily
Genetic privacy: Who should know what your tests reveal?, Minnesota Public Radio
Does your genome belong to your family, too?, Science Friday
Susan M. Wolf, J.D., is the McKnight Presidential Professor of Law, Medicine & Public Policy and the Faegre Baker Daniels Professor of Law at the University of Minnesota. She is the founding chair of the Consortium on Law and Values in Health, Environment & the Life Sciences and founding director of the Joint Degree Program in Law, Science & Technology. She is also a professor of medicine in the university’s Medical School and a faculty member in the university’s Center for Bioethics.