Genetic Testing: Thorny Ethical Puzzles in Returning Results From Researchers

Savir Punia, MJLST Lead Notes and Comments Editor

The Minnesota Journal of Law, Science and Technology Symposium article, The Role of Law in the Debate over Return of Research Results and Incidental Findings: The Challenge of Developing Law for Translational Science, by Professor Susan Wolf, discusses the current issues researchers are facing with genetic testing. At present, there is a dramatic rise in genetic-based research and tissue banks seeking to discover the genetic mutations and disorders responsible for some of the worst ailments plaguing humans today. As researchers are able to gather data using increasingly sophisticated tools, researchers are finding things they are not looking for, including information that could make a big difference for a donor. According to the 2012 New York Times Article, Genes Now Tell Doctors Secrets They Can’t Utter, we are at an awkward interval where our ability to capture information is exceeding our ability to know what to do with it.

Currently, the federal government’s National Institute for Health (NIH) is funding projects, including Professor Wolf’s research project on return of results, in order to develop guidelines in this thorny subject area. Until then, researchers are operating with a heightened nervousness about when and how to disclose research results to study participants or their families. According to Professor Wolf’s symposium article, researchers are already expressing anxiety “that they must navigate between legal threat on both sides – liability for failure to return findings on one side, and liability for wrongly returning on the other.”

Given the current state, researchers are tasked with dealing with challenging situations on their own. For example, researchers studying genes unrelated to breast cancer notice members of one family have a breast cancer gene, does this obligate researchers to disclose this finding or not. Currently, a lot of this depends on the types of consent forms used in the research projects. For example, the New York Times article discusses to similar situations with very different results. In the first research project investigators discover that a family does have a breast cancer gene, but does not disclose it because the consent form stated no results would be returned, essentially tying the hands of the researchers. In another study, researchers discovered a woman who had a strong family history of breast and ovarian cancer did not carry her family’s breast cancer gene, and they decided on ethical grounds to breach their consent forms stipulations in order to inform the woman and her family. These types of situations are becoming an ever increasing problem, and with no guidance or base line rule issued by any public health organization, researchers will continue to get caught up in return of research results.

Genetic research has brought about rapid advancement and change in how we approach human health, but it also has brought about some great challenges. As important as genetic research is, the individual submitting to it must not be forgotten. As genetic researchers sequence whole genomes and discover mutations in research participants’ sequences, there will be more of an imperative to communicate those results back in order to help that participant seek preventative care. Moreover, genetics are unique in that mutations in one individual may affect that individual’s entire family. Research participants’ families have a stake in their family members’ genetic sequences, because what is discovered there could also affect their own lives. Whether to return results to family members is a much more controversial issue and includes certain traditional healthcare privacy rules. As genetics continue to grow and play an important part in our healthcare, issues such as the ones above will need to be clarified and outlined. Research in this area is occurring at a fast pace, and Professor Wolf and her colleagues will be watched closely as they work toward establishing guidelines to power genetic research into the future.