A mother of three young children enrolls in a breast cancer research study in which researchers will sequence her entire genome to look for variants that might contribute to developing breast cancer. As researchers analyze her genome, they discover that she has markers associated with hereditary non-polyposis colorectal cancer (HNPCC), a hereditary syndrome that is strongly associated with cancer. Do the researchers have a responsibility to inform her of this finding? If so, who should tell her: the researchers, her doctor, or a genetic counselor? Do they have a responsibility to inform her children who are now known to be at risk as well? When should her children be notified? At what age? In what circumstances?
These are just a few of many important questions raised when researchers come across what are called “incidental findings” in the course of research. In general, incidental findings are results that are not associated with the aim of the research or test itself; they are outside the scope of the original research study, but might have significance to the participant.
The cost of sequencing a person’s entire genome is expected to fall to $1,000 in the near future. As costs decline, researchers and clinicians likely will use whole genome sequencing more frequently. Because of this, we need clear public guidance for how researchers and clinicians should handle incidental findings and what participants should expect.
There is ongoing debate on how and when to return incidental findings to research participants. Questions include:
- Do researchers have an obligation to look for incidental findings?
- Do researchers have an obligation to reveal incidental findings to participants? If so, which ones? Only those deemed clinically actionable? Interpretable?
- What if participants do not want to receive the information, or only want to receive some types of findings? What if parents and children disagree about whether to receive incidental findings?
The Presidential Commission for the Study of Bioethical Issues (the Commission) plans to take up the issue of incidental findings in future work. In its most recent report, Privacy and Progress in Whole Genome Sequencing, the Commission acknowledged the issue of incidental findings, recommending that “researchers … make individuals aware that incidental findings are likely to be discovered in the course of whole genome sequencing. The consent process should convey whether these findings will be communicated, the scope of communicated findings, and to whom the findings will be communicated.” The Commission also recommended further “studies to evaluate proposed frameworks for offering return of incidental findings and other research results derived from whole genome sequencing.” Other public and private organizations are contributing to the bioethical discourse surrounding incidental findings. For example, The National Human Genome Research Institute created the Return of Results Consortium, which aims to develop policy solutions by engaging experts in the field.
The Commission clearly recognizes that more work is needed to articulate and evaluate relevant frameworks for considering and taking action on incidental findings, and crafting policy on all levels that will reflect the best bioethical work in this area.