American College of Medical Genetics and Genomics

View all recommendations from this society

Released July 10, 2015; sources updated September 15, 2016

Don’t order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result.

Prior to ordering a genetic test for an inherited condition, the health care provider should ask a patient about prior genetic testing and review the medical record for previously performed genetic tests. Repeating a genetic test should be considered if the existing result is inconsistent with the individual’s clinical presentation or if the test methodology has changed and may yield a different result from the original report that could impact patient management.


The items on the ACMG list are provided solely for informational purposes and are not intended as a substitute for consultation with a medical professional. In determining the propriety of any specific procedure or test, patients should consult with their individual providers and providers should apply their own professional judgment to the specific clinical circumstances presented by each individual patient.

How The List Was Created

The American College of Medical Genetics and Genomics (ACMG) list relies on input from a number of committees in developing clinical practice guidelines and laboratory technical standards and guidelines. For the Choosing Wisely® campaign, input from the Laboratory Quality Assurance Committee, Professional Practice and Guidelines Committee and Therapeutics Committee was solicited. A list of 18 items was reviewed by the ACMG Board of Directors and the five items currently thought to most likely improve quality and reduce waste related to genetic testing were selected. The recommended list was approved by the ACMG Board of Directors, March 24, 2015.

For the ACMG’s disclosure and conflict of interest policy, please visit www.acmg.net.

Sources

Krasowski, MD, Chudzik D, Dolezal A, Steussy B, Gailey MP, Koch B, Kilborn SB, Darbro BW, Rysgaard CD, Klesney-Tait JA. Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center. BMC Medical Informatics and Decision Making. 2015;15:11.

Miller CE, Krautscheid P, Baldwin EE, Tvrdik T, Openshaw AS, Hart K, Lagrave D. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Med Genet A. 2014 May;164A(5):1094-101.