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In Reversal, Genetics Group Says Patients Should Be Allowed to Refuse 'Incidental' Findings

Apparently bowing to pressure from its members, the American College of Medical Genetics and Genomics (ACMG) says that patients should be allowed to “opt out” of learning about how their DNA might increase their risk of disease. The policy, announced today, reverses a controversial recommendation that the group made last year. It urged clinicians to tell people undergoing genomic sequencing whether their genes might make them more likely to develop serious disease in the future, even if they didn’t want that information. 

The original ACMG policy aimed to offer much-needed guidance in the area of so-called incidental findings, which are increasingly presenting a conundrum in medicine and research. As the cost of gene sequencing drops, DNA being sequenced for one purpose may yield many other secrets, such as the risk of certain cancers and Alzheimer’s disease. Almost exactly a year ago, ACMG proposed a radical shift in how incidental findings are handled. Not only did it say that findings should be shared with patients—it also argued that labs should actively look for certain DNA mutations in someone whose DNA is being sequenced for any medical reason. The recommendations included sharing the DNA finds linked to adult-onset cancers with the parents of pediatric patients.

“We're part of medicine now," Leslie Biesecker, chief of the Genetic Disease Research Branch at the National Human Genome Research Institute in Bethesda, Maryland, and co-chair of the ACMG working group that wrote the report, told Science at the time. "This is something that we think a reasonable person would want to know, and, were you not to have told them, would be pretty unhappy with you afterwards.”

But the recommendations were met with a backlash from geneticists, ethicists, and others who worried that they flew in the face of patient autonomy. The new ACMG policy allows patients to opt out of having labs analyze their DNA for so-called “medically actionable” genes, if they wish.