Fear of negative emotions, lack of interest, and distrust of medical institutions were some of the reasons that participants refused to receive information regarding medically actionable secondary genetic findings, even after they received additional education on what the findings would include.
Concerns about negative emotions, information relevancy, and government entities having access to information were some of the major reasons participants refused to receive medically actionable secondary genetic findings (SFs), even after going through an informational intervention, according to a recent study.
The study, published in Genetics in Medicine, provided insight into the reasoning behind individuals’ decisions to refuse the return of SFs and brings to light the need for more detailed information about SFs to be distributed to participants during the informed consent process.
“This study provides valuable data to inform how research institutions design policies related to returning SFs to research participants. Most significantly, our data raise questions about whether a strong conception of the ‘right not to know’ is the right lens when creating policies to govern the return of SFs,” wrote the investigators.
As genome and exome sequencing utilization has increased, researchers and clinicians have questioned how to address uncovering findings that may be unrelated to the primary purpose of the sequencing. Additionally, there’s been some debate about whether a patients’ preference for receiving, or not receiving, such information should be prioritized over sharing findings that could be life saving in the long run.
Evidence has shown significant variation regarding understanding consent documents and the impact that information presentation can have on patients’ understanding of the results. It’s unclear why some participants refuse SFs and there’s a lack of generalizable data on the views and characteristics of people who refuse receiving medically actionable genetic information.
The investigators invited participants from the Environmental Polymorphisms Registry, a study from the National Institutes of Health (NIH) investigating how genetic and environmental factors influence health. Of the participants who have consented to genomic sequencing between November 18, 2019, and January 31, 2020, 8678 chose to receive SFs and 165 chose not to. The investigators invited all 165 refusers and a random sample of 330 acceptors to participate in the sub-study.
Out of the 495 people contacted, 231 agreed to participate, with 83 refusers and 148 acceptors. Surveys were conducted and included 3 portions where the participants were asked about how strongly they felt about their decision and their recall about what SFs entail. They were also given an opportunity to change their answer after being given more educational information on SFs.
The most commonly reported reason for refusing SFs was that participants thought that the information would make them worried or sad (51.8%). Other cited reasons for refusal were that participants were not curious about the information (32.5%), would not use the information (19.3%), did not think that it was relevant (13.3%), concerned about health insurers knowing (13.3%), and fear of stigma (4.8%).
“The concern that learning genetic information will lead to psychological harms has been prominent in the bioethics literature, but more recent data suggest that people who have received troubling genetic information do not end up being as anxious as they thought they would be….More research needs to be done to understand why these reasons may have driven people not to receive important health information, and how researchers might address them,” the investigators said.
Black respondents (27%) refused SFs significantly more than non-Black participants, with 47.7% of Black participants refusing compared with 31.7% of White and Asian American participants. A main reason for refusal in this population was that they did not trust the NIH with their genetic information because of the long history of racial discrimination in US health care spaces and historical medical injustices against Black people, the study noted.
“This finding reminds us that it is important to be sensitive to the fact that there might be important and legitimate reasons for refusing that differ among racial groups,” the investigators said.
After receiving more information on SFs, 41 refusers and 6 acceptors changed their answers, with 76.6% of all respondents reporting that they felt “completely” or “pretty sure” about their decision. The researchers said that future studies should focus on the causal relationship between being better informed and wanting more health information as well as the factors that lead to people to accept or refuse receipt of such information.
The investigators listed the year-long gap between participants’ original decision and the initiation of the survey and the small number of participants as study limitations.
Schupmann W, Miner SA, Sullivan HK, et al. Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves. Genet Med. Published online July 29, 2021. doi: 10.1038/s41436-021-01271-1