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Geneticists identify which incidental findings need reporting

NEWS IN BRIEF — Posted April 8, 2013

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One of the nation’s leading genetics organizations developed a list of incidental findings that should be reported to physicians who order exome or genome sequencing for a patient. Such findings are results that are unrelated to the reason the sequencing was ordered.

Incidental findings to be reported include genetic variants that increase a person’s risk of developing hereditary breast and ovarian cancers, familial hypercholesterolemia and hypertrophic cardiomyopathy, said the American College of Medical Genetics and Genomics. The results were presented March 21 in Phoenix at the organization’s annual clinical genetics meeting.

The ACMG said the list should be reported for patients of all ages, because they could have implications for other family members.

Physicians are encouraged to evaluate all the genetic findings and place them in the context of the patient’s clinical presentation and family history. Doctors can use the information to determine if additional surveillance or intervention is needed for patients and relatives who are at increased risk for the conditions, the ACMG said (link).

The list of incidental findings should be viewed as a starting point that will require ongoing modification as new data on the benefits and harms of such findings are published, the organization said. The ACMG’s 27-page report was developed during a year-long consensus process in 2012 by a working group comprised of medical and laboratory geneticists. It includes detailed recommendations and the background and rationale for that guidance.

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