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Secondary Genetic Findings Often Requested if Given Second Chance, Study Finds

NEW YORK — About half the individuals who initially opted not to receive secondary genetic findings from a research project changed their minds when later given more information and a second chance to decide, a new study has found. The result may support changes to how secondary findings are handled, according to the researchers.

The American College of Medical Genetics and Genomics in 2013 generated a list of genes for which they said disease-causing variants should be returned to individuals undergoing genomic testing for other reasons. The announcement was met with concern that the group was not taking patients' right not to know their genetic information into account, leading it to amend its guideline to allow patients to opt out. The ACMG list currently includes 73 genes.

Bioethics researchers at the US National Institutes of Health, though, noted that current approaches in research settings to gathering participants' wishes assume that people's preferences are stable over time and that the informed consent process can accurately capture their preferences. In a new analysis, they examined how wedded participants are to their choices.

"Because these genomic findings can have life-saving implications, we wanted to ask the question: Are people really understanding what they are saying no to? If they get more context or a second opportunity to decide, do they change their mind?" senior author Benjamin Berkman, deputy director of the NHGRI Bioethics Core, said in a statement.

As they reported Thursday in Genetics in Medicine, the researchers found that about 50 percent of people who first declined to receive their secondary results in a large study chose to receive them after being provided additional information. A portion, though, were consistent in their refusal. Still, the researchers argued that the findings support making changes to how secondary results are handled to an opt-out model.

For their study, the researchers drew upon participants from the Environmental Polymorphisms Registry, a National Institute of Environmental Health Sciences study examining genetic and environmental influences on human health. At the time the researchers conducted their analysis, 8,678 individuals from the EPR study who consented to genomic sequencing opted to receive secondary findings, while 165 did not.

They surveyed those who declined their secondary findings and a random sample of 330 individuals who opted to receive them, with a response rate of 46.7 percent.

After being provided additional information about secondary findings — such as that they would only be returned if associated with serious disease and had a strong evidence base — 49.4 percent of the 83 individuals survey respondents who initially declined to receive their findings chose to receive them. The other 50.6 percent consistently declined.

The researchers noted, though, that about three-quarters of the "reversible refusers" thought that they had originally agreed to receive their secondary findings. This suggested that the check box choice on consent forms might not capture research participants' true preferences.

Meanwhile, "persistent refusers" largely demonstrated a high understanding of which secondary results would be returned and cited as reasons for their refusal concerns like the results causing them to worry or be sad, as well as, for a percentage of Black participants, not trusting NIH with information.

In context of the larger EPR study, the persistent refusers represented less than 1 percent of the study population.

The findings suggested to the researchers that the consent process for receiving secondary findings should be reassessed. They argued that the data support a switch to a default practice of returning results, though with an opt-out mechanism. In their paper, they contended that the potentially significant harm of participants incorrectly noting their preferences on consent forms and not receiving actionable medical information outweighs the harm of not respecting the preferences of persistent refusers who do not opt out.

They added that another, less controversial approach might be to offer individuals multiple opportunities to make their choice.

"The right not to know has been a contentious topic in the genomics research community, but we believe that our real-world data can help move the field towards a new policy consensus," Berkman said.