In recent years, several new biobanks and some specific genetic studies have been designed so that some research results can be returned to participants. Yet many important issues must still be addressed. Many researchers, experts in research ethics, and others contend that only "actionable" genetic information should be returned to research participants. "Actionable" is defined here to mean that some action can be taken by the individual and/or her physician to prevent a genetic-related disease or disorder from occurring, or to alter in some way its natural progression. Actionable genetic information can also guide physicians' decisions about the type of drug or dose to give their patients. For example, some genetic variants are associated with how individuals respond to warfarin, a drug commonly used to prevent blood clots. If a patient has one of the variants, a physician may alter the standard dose of warfarin for that patient based on her genotype.
Some commentators object to the gatekeeper approach to returning genetic research results and contend that researchers should give research participants all of the genetic information generated from analyses of their DNA, not just actionable information. And many potential and actual research participants say they want access to all of their genetic information generated in research studies, even if the clinical utility of the information is uncertain. In fact, many genetic research participants say they were motivated to enroll in biobanks or specific studies so they could get access to their genetic information. Surveys with research participants also indicate that even when individuals discover they have genetic variants associated with serious conditions for which no preventive or treatment interventions are available - e.g., the APOE genotype for risk of Alzheimer's disease - they do not necessarily have high levels of distress from learning this information. Whether people will continue to give their biospecimens to a biobank or enroll in a genetic study if they can only have access to some of their genetic research results remains to be seen.
Another unresolved issue involves the "right not to know." What if a research participant says she does not want any of her genetic information, yet analysis of her DNA reveals she has a genetic variant that is linked to sudden cardiac arrest? Researchers, biobanks, and genetic counselors may object to withholding this information from the research participant. Yet respecting individuals' autonomous decision to reject medical information is a core principle of medical ethics. On the other hand, it is unclear whether the failure to inform individuals about potentially life-threatening information - even against their wishes - raises issues of legal liability for researchers and biobanks. It is also unclear whether researchers have an obligation to inform a research participant's biological relatives about the participant's genetic information that may have implications for their own health. What if the genetic information is generated from analysis of DNA samples after the biospecimen contributors have died? Do family members have a right to the genetic information post-mortem?
Some of these issues are not unique to the research setting, and many remain unresolved when genetic testing is conducted in the clinical context. Nonetheless, researchers and biobanks that plan to return genetic results to research participants must develop thoughtful and defensible approaches to these complex ethical issues that have implications for individual research participants, and that may have implications for family members as well.
Karen Maschke, PhD, is a research scholar at the Hastings Center and Editor of IRB: Ethics & Human Research.