A study carried out by the National Institutes of Health (NIH) shows that almost half of genome sequencing participants who initially say they don’t want to know about any secondary genetic findings that arise during the process change their minds if given more information.
These findings, published in the journal Genetics in Medicine, call into question the consent process used when carrying out sequencing for clinical reasons, or when recruiting participants for biobanks or trials that involve genomic sequencing.
Although having your genome sequenced can be interesting and useful for health diagnostic purposes, it’s very possible that unexpected secondary findings can arise that could have serious consequences for the person being tested. For example, if they were found to be carriers of the gene variant for Huntington’s disease, a heritable late-onset neurodegenerative condition with no cure.
In 2013, the American College of Medical Genetics and Genomics (ACMG) promoted a list of gene variants, recently updated, that it advised should be returned to clinical genomic sequencing recipients without asking their preferences first. This caused much controversy and debate about people’s “right not to know” about such findings.
“Even when this information is potentially life-saving, some argued, respecting autonomy ought to trump concerns of beneficence,” write the study authors.
“In contrast, the ACMG argued that “clinicians have a fiduciary duty to warn patients about high-risk variants” and that it would not be “appropriate to give patients a choice not to learn about” these findings.” As a result of the controversy, the ACMG were pressured to revise their recommendations and allow people to opt out of receiving these findings.
A related discussion is happening among researchers working on biobanks or trials that recruit large numbers of people to undergo genome sequencing, such as the UK’s 100,000 genomes project, among others.
“Proponents of soliciting research participants’ preferences assume that these preferences are strong and stable, and that they can reliably be captured during the consent process,” write the authors. “However, studies on the quality of informed consent cast doubt on this assumption; there is significant variation in how people understand consent documents, and the way information is framed can have a significant impact on their understanding and answers.”
To investigate the reasons why some participants choose not to receive secondary genetic findings, Benjamin Berkman, deputy director of the National Human Genome Research Institute Bioethics Core in Bethesda, and colleagues questioned 231 participants of the Environmental Polymorphisms Registry about their choices on enrolment. This registry is run by the NIH and includes 19,658 participants. It is designed to “examine how genetic and environmental factors influence human health.”
Of those questioned in the study, 148 had requested to receive any secondary genetic findings after having their genomes sequenced and 83 had refused secondary notifications.
The selected study participants were questioned about their choices and given more information about the types of secondary findings that could be returned to them. They were then given the opportunity to change their minds if they wished.
Overall, 49.4% of those who initially refused to receive secondary findings changed their minds after receiving more information and said they would like to receive them. Most of them (75%) seemed a bit confused about the original consent process and thought they had already agreed to receive additional findings.
The other half of this group (50.6%) continued to refuse to receive secondary findings, most citing a desire not to become worried or sad as a result (43.8%). This group appeared to be well informed about the kind of results they could receive if they wished.
Only six of the group who initially accepted secondary findings refused after receiving more information. Most people in the overall acceptor group wanted to know about any secondary findings to improve their health (83.1%).
“This study demonstrates the need for a more robust informed consent process when soliciting research participants’ preferences about receiving secondary findings,” conclude the authors.
“We also suggest that our data support implementing a default practice of returning secondary findings without actively soliciting preferences.”