The American College of Medical Genetics and Genomics (ACMG) has released evidence-based recommendations to guide clinicians and patients on appropriate genetic tests as part of the Choosing Wisely campaign.

This evidence-based list was developed to support conversations between patients and clinicians regarding genetic testing to ensure that appropriate tests and treatments are prescribed. The ACMG has identified the following for their recommendations:

  • Do not order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result.
  • Do not order APOE genetic testing as a predictive test for Alzheimer’s disease.
  • Do not order MTHFR genetic testing for the risk assessment of hereditary thrombophilia.
  • Do not order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.
  • Do not order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.

RELATED: Poll: Majority of Americans Interested in Genetic Testing

Kristin Monaghan, PhD, FACMG, an ACMG Board member and one of the recommendation authors, stated that “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…we hope this Choosing Wisely list provides some helpful direction for clinician-patient dialogue about genetic and genomic testing.”

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