Direct-to-Consumer Genetic Testing May Reveal Troubling Information

By Brandon May

March 03, 2022

NEW YORK (Reuters Health) - Most people who use direct-to-consumer (DTC) genetic testing and "relative finder" services have positive experiences, but some discover distressing information about themselves or their family, a new survey suggests.

For instance, some users reported that a person they believed to be a biological parent was in fact not or that they had a sibling they had not known about, researchers note in the American Journal of Human Genetics.

The "positive outcomes include making meaningful connections with new relatives and learning helpful information from new relatives about, for example, their family health history," said lead author Christi Guerrini of the Center for Medical Ethics and Health Policy at Baylor College of Medicine, in Houston.

"That said, it appears that a minority who are participating in these services have experienced overall negative consequences," Guerrini told Reuters Health by email. "And regardless of whether their discoveries are experienced as positive or negative, some are making health or lifestyle changes as a result of what they've learned, such as changing their diet or moving."

According to Guerrini, users' experiences have only largely been reported in news reports, blogs and books in the context of specific individuals. She and her colleagues sought to characterize the experiences reported by a large population of users of DTC genetic-testing services.

In their study, the researchers administered a survey to approximately 1 million customers of DTC genetic-testing services and genetic-genealogy-database participants. More than 23,000 responded to the survey.

Eighty-two percent said they discovered the identity of one or more genetic relative, with 10% reporting they identified a biological grandparent and another 10% reporting they identified a full or half-sibling. An additional 7% said they identified a biological father with the services.

Sixty-one percent said they learned something new about themselves or their relatives, with a small minority saying they or their relative experienced strongly negative outcomes, characterized as reports of net-negative consequences for themselves (2%), not feeling like themselves (1%), or feeling worse about themselves (1%).

Among individuals who learned new personal information, 11% reported some level of regret about their decision to use the testing service.

Guerrini cautioned that the findings don't capture the potential complexity of consequences or how they can change over time. "We hope to dig into that in future research," she said. "More research also needs to be done to understand what resources have been helpful to individuals as they process their discoveries, whatever the outcomes, and where there might be resource gaps."

She added that most importantly, the findings may help identify who may be most in need of support after making surprising discoveries with genetic testing services and how best to support these individuals' mental and emotional health.

Dr. Arthur Caplan, a professor of bioethics in the department of population health at the NYU Grossman School of Medicine, told Reuters Health by phone that the study is long overdue, as it offers important and timely insights into the use and consequences of these tests which have not been widely discussed.

"There have been concerns for some time about inadvertent discoveries and unexpected discoveries from these commercial ancestry genetic-testing companies," Dr. Caplan said. "I do not feel they warn people sufficiently about that possibility when they try to sell them the kits and the services, and this study makes it clear that they should."

Dr. Caplan, who wasn't involved in the research, suggested that companies selling these services should warn prospective clients of potentially disruptive outcomes.

"You could find a person you thought was a parent but isn't," he added. "It's not that everybody should be terrified of using these tests, but there are enough unexpected findings in terms of sensitive areas that I really believe the commercial companies ought to be required to do much more in terms of disclosure and making counseling available for people who are upset."

SOURCE: American Journal of Human Genetics, online March 3, 2022.