If a study includes genomic testing, it is possible incidental findings will be discovered. As it stands, there is no clear-cut guidance for whether researchers should tell participants about those findings. “Researchers are not forced to share it. It is left up to the discretion of the researcher,” explains Luigi Boccuto, MD, a clinical geneticist and faculty member in the School of Nursing at Clemson University.
This is ethically unacceptable, according to guidance Boccuto and colleagues authored.1 Previously, researchers conducting genetic sequencing studies were just sequencing one gene, or a group of genes. Findings were returned only for those genes.
“You couldn’t know if something else was there. Now, you are basically sequencing the whole genome, and applying a magnifying glass to the genes you want to explore more specifically,” Boccuto says.
Researchers are looking only at certain genes, or groups of genes. However, whole genome sequencing gives investigators access to a lot more information. “The problem about what to do with that data has become more relevant,” says Boccuto, who along with colleagues offered recommendations:
• Tell potential participants about the possibility of incidental findings. “Even if there are lots of challenges in handling incidental findings, it’s at least recommended to share the possibility of the findings, and to instruct the people involved in research studies about managing that interaction with participants,” Boccuto says.
People are becoming more knowledgeable about genetic testing, and some are aware of the possibility of incidental findings. Study participants have a right to expect transparency on this matter, according to Boccuto.
This can be addressed during informed consent conversations. People might decide to enroll, or not enroll, in a study, based on how much they trust researchers. “Being open about sharing the data helps tremendously with this trust. We do believe this is something that should be at least mentioned to the participant,” Boccuto says.
• Let study participants be the ones to decide if they are informed about incidental findings. During informed consent discussions, research staff can state: “We will have information about every part of your DNA, but the study is focused on only specific genes. Are you interested in the rest of the information?”
“At least you put the individual in the position of making an informed choice,” Boccuto offers.
• Disclose how incidental findings will be handled in study protocols. Researchers work with limited resources and personnel. Hiring a genetic counselor to interpret results for study participants is ideal, but not always possible. “The centers coordinating the study might not be willing, or might not have the logistics or resources, to arrange that,” Boccuto laments.
The study protocol can specify how incidental findings will be handled. For example, protocols might direct staff to explain to participants that incidental findings might be detected, but staff is not capable of interpreting those findings. Participants can take the findings to a genetic counselor for interpretation. The overarching goal is to establish trust between study participants and researchers.
“The most important ethical consideration is open communication between researchers and participants,” Boccuto underscores.
Study participants must be the ones to decide what, if anything, they will do with the information. “Participants have a right to know that findings of uncertain significance have been detected,” Boccuto says. “At least they are put in a position where they can manage the data from their own DNA.”
Investigators may find potential participants demand answers due to growing awareness of the significance of genomic testing. “Genomic tests are now part of the culture, with commercial platforms offering services direct to consumers,” Boccuto notes.
Thanks to this heightened awareness, some enrollees are asking questions about what information returned as part of the study. “It is important to explain that the information will ideally be interpreted within genetic counseling consultation, during which the significance of the findings will be discussed,” Boccuto says.
Staff can explain how participants can share the information with specialists. Even if the incidental findings are not classified as medically actionable today, that could change if the findings are reclassified sometime in the future. However, if the study participant does not have the information, there is no way for that person to take action to protect their health, or a family member’s health. “People might get angry and ask why they were never given the information,” Boccuto says. “People might say, ‘You had no right to make that decision for me.’”
REFERENCE
1. Schaare D, Ward LD, Boccuto L. Incidental findings in study participants: What is the researcher’s obligation? Genes (Basel) 2022;13:1702.
If a study includes genomic testing, it is possible incidental findings will be discovered. As it stands, there is no clear guidance for whether researchers should tell participants about those findings.
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