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Reconsidering Incidental Findings

After having a few months to think about the American College of Medical Genetics and Genomics recommendations on returning incidental findings to patients, Caroline

Wright writes on Genomes Unzipped that, while she still harbors "major reservations" about the plans, some parts of the guidelines "make a lot of sense."

Wright, a molecular investigator and a visiting fellow at the PHG Foundation, says that screening genomes for actionable variants makes more sense in a clinical setting, in some respects, because of the logistical structures that are already in place in the clinic, such as built-in routes for sharing information, relationships are already established with patients, accreditations are required for all labwork, and counseling and referral opportunities are all available to the patient.

She also likes ACMG's proposal that there should be a relatively short list of important genes that are screened for. This keeps healthcare providers from being "overwhelmed with a data tsunami," and ensures that the conditions marked for screening are ones that have preventative countermeasures the patients may pursue.

However, Wright says she still has reservations about the possible harms that could come from returning incidental findings under ACMG's proposals, and that she sees a conundrum between the harms and the benefits.

"If we don’t screen genomes for clinically actionable variants, some individuals will be harmed by diseases that could have been prevented; on the other hand, if we do screen genomes, some individuals will be harmed by treatment for diseases that would never have developed," she says.

She writes that she still prefers to "err on the side of caution," and without strong evidence of benefits she would like to avoid incorrect predictions that could harm healthy individuals.

She suggests that the best thing to come out of the ACMG recommendations is that they have brought the debate about incidental findings and screening policy into the foreground.