By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies
The American College of Medical Genetics and Genomics (ACMG) has released a list of five commonly misordered genetic tests that patients and providers should discuss prior to ordering. The evidence-based recommendations are part of Choosing Wisely, a national, multidisciplinary campaign that encourages physicians to avoiding wasteful or unnecessary medical tests, treatments and procedures. Participation by ACMG signals acknowledgement that there is room to improve genetic test selection.
"All clinicians, including medical geneticists, play a key role in making sure that the appropriate tests and treatments are prescribed," says ACMG vice-president and co-author of the ACMG Choosing Wisely recommendations, Maren Scheuner, M.D., in a statement. "We hope the ACMG recommendations will help inform important conversations about genetic tests on this list."
The Choosing Wisely campaign, launched by the ABIM Foundation in 2012, has incorporated recommendations from more 70 specialty society partners to date aimed at fostering wiser care choices and engaging physicians to be better stewards of finite health care resources.
To generate its recently released recommendations, ACMG solicited input from several of its committees in conjunction with a review of the latest research. A list of 18 items was reviewed by the ACMG Board of Directors and was narrowed. They say the current list of five items was selected as they were the most likely to improve quality and reduce costs related to genetic testing. The specific recommendations are:
- 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 disease.
- Do not order MTHFR genetic testing for assessing the risk 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.