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.