ACMG offers five tips on genetic test ordering
The American College of Medical Genetics and Genomics has released a list of five things patients and physicians should discuss regarding specific genetic tests as part of Choosing Wisely, an initiative of the American Board of Internal Medicine Foundation.
The ACMG identified the following five 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 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.
The ACMG list relies on input from a number of committees to develop 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 thought to most likely improve quality and reduce costs related to genetic testing were selected.