https://immattersacp.org/weekly/archives/2015/07/21/5.htm

Five Choosing Wisely recommendations on ordering genetic tests offered

Duplicate genetic tests and apolipoprotein E genetic testing as a predictive test for Alzheimer's disease are just 2 of the “do nots.”


The American College of Medical Genetics and Genomics (ACMG) issued a list of 5 evidence-based recommendations for appropriate genetic test ordering as a series of “do nots:”

  1. 1. Do not order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result.
  2. 2. Do not order apolipoprotein E genetic testing as a predictive test for Alzheimer's disease.
  3. 3. Do not order methylenetetrahydrofolate reductase genetic testing for the risk assessment of hereditary thrombophilia.
  4. 4. Do not order hemochromatosis (high iron Fe, or HFE) genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.
  5. 5. Do not order exome or genome sequencing that includes the possibility of secondary findings before obtaining informed consent.

The list is part of the Choosing Wisely campaign, an initiative of the American Board of Internal Medicine Foundation that aims to foster sensible use of finite health care resources. The goal of these recommendations is to encourage all clinicians and patients to have conversations about appropriate genetic testing, according to an ACMG news release.

ACMG developed the list over the past year, using evidence, expert opinions, and research to inform its recommendations, the release stated. The ACMG Board of Directors reviewed an initial list of 18 items and selected the 5 that seemed most likely to improve quality and reduce costs related to genetic testing, according to the release. The list is for informational purposes only, and clinicians should use their own professional judgment regarding individual patients, the release stated.