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ACMG Issues Genetic Testing Recommendations to Encourage Docs, Patients to Choose Wisely

NEW YORK (GenomeWeb) – The American College of Medical Genetics and Genomics has issued five recommendations that patients and their doctors should consider and discuss before ordering genetic testing.

ACMG issued the recommendations as part of Choosing Wisely, a campaign launched in 2012 by the American Board of Internal Medicine to advance a national conversation around wasteful medical interventions. So far, more than 100 local and national societies and healthcare collaboratives, as well as consumer groups have joined.

By issuing these five recommendations, ACMG is hoping to encourage evidence-based and cost-effective genetic testing. "As genetics and genomics continue to play an increasingly important role in all aspects of patient care, we know that patients will have more questions and we hope this Choosing Wisely list provides some helpful direction for clinician-patient dialogue about genetic and genomic testing," ACMG Board Member Kristin Monaghan said in a statement.

At this point, ACMG tells doctors to not order a second genetic test for an inherited condition unless there is reason to question the validity of the first test result. They also advise against ordering exome or genome sequencing for patients without educating them about the possibility of secondary findings and garnering their informed consent.

ACMG's policy statement tells qualified healthcare professionals to obtain written consent from patients for clinical exome or genome sequencing, explain the uncertainty and privacy issues associated with such testing, and the potential impact results could have on family members. Additionally, the group recommends analysis and reporting of variants in 56 "highly medically actionable" genes associated with 24 inherited conditions. Patients can opt out of analysis of this set of genes.

ACMG has also issued specific recommendations on three genetic markers: APOE, MTHFR, and HFE. According to the college, APOE genetic testing shouldn't be ordered as a predictive test for Alzheimer's; MTHFR testing shouldn't be used for assessing risk of hereditary thrombophilia; and HFE testing shouldn't be ordered for patients who don't have iron overload or a family history of HFE-related hereditary hemochromatosis.

Maren Scheuner, ACMG VP of clinical genetics and coauthor of the ACMG Choosing Wisely List of Recommendations, noted that the group addressed these three tests because committee members considered them to be overused and because there was substantial evidence about when they should and should not be used.

"There were discussions about more esoteric tests, and the sequence of when certain tests should be ordered," Scheuner told GenomeWeb. "However, because clinical decisions are based on individual circumstances, it was difficult to tailor messages to these other tests in accordance with the Choosing Wisely campaign's message."

In developing these recommendations, ACMG garnered input from a number of its committees charged with developing guidelines, and its board considered 18 items. The board members ultimately chose to issue the five recommendations because they stand to improve quality and reduce costs related to genetic testing, the group said in a statement.

"All clinicians, including medical geneticists, play a key role in making sure that the appropriate tests and treatments are prescribed," Scheuner said in a statement. "We hope the ACMG recommendations will help inform important conversations about genetic tests on this list."