ACMG Provides Recommendations on Genetic Testing Through the Choosing Wisely® Campaign

Goal is to encourage clinician and patient conversations about appropriate genetic testing

Bethesda, MD — July 10, 2015- The American College of Medical Genetics and Genomics (ACMG) has released a list of five things patients and providers should discuss regarding specific genetic tests as part of Choosing Wisely, an initiative of the ABIM Foundation.  The just-released list identifies five evidence-based recommendations that can support conversations between patients and clinicians regarding genetic testing.  To date, more than 100 national and state medical specialty societies, regional health collaboratives and consumer partners have joined the Choosing Wisely campaign about appropriate care.

The list provided by ACMG provides evidence-based recommendations to help all clinicians and patients to have conversations about making wise choices related to genetic testing.  The lists were developed over the past year with careful consideration of the latest evidence, expert opinions and research.

The ACMG brings valuable expertise and focus on genetics in medicine and is a trusted voice on matters related to genetic and genomic testing. ACMG identified the following five recommendations:

Five Topics that address appropriate genetic test ordering:

  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. Do not order APOE genetic testing as a predictive test for Alzheimer disease.
  3. Do not order MTHFR genetic testing for the risk assessment of hereditary thrombophilia.
  4. Do not order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.
  5. Do not order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.

Kristin Monaghan, PhD, FACMG, ACMG Board member and one of the authors of the ACMG Choosing Wisely list of recommendations said, “ACMG is delighted to be part of the ABIM Foundation’s Choosing Wisely campaign. 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 and we hope this Choosing Wisely list provides some helpful direction for clinician-patient dialogue about genetic and genomic testing. ”

“All clinicians, including medical geneticists, play a key role in making sure that the appropriate tests and treatments are prescribed.  We hope the ACMG recommendations will help inform important conversations about genetic tests on this list,” added ACMG vice-president of Clinical Genetics Maren T. Scheuner, MD, MPH FACMG, and co-author of the ACMG Choosing Wisely List of Recommendations.

How this list was created.

The American College of Medical Genetics and Genomics (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 5 items currently thought to most likely improve quality and reduce costs related to genetic testing were selected.

Note: 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 clinicians and clinicians should apply their own professional judgment to the specific clinical circumstances presented by each individual patient.


About the American College of Medical Genetics and Genomics (ACMG)

Founded in 1991, ACMG is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The American College of Medical Genetics and Genomics ( provides education, resources and a voice for nearly 1800 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. The College’s mission is to develop and sustain genetic initiatives in clinical and laboratory practice, education and advocacy. Three guiding pillars underpin ACMG’s work: 1) Clinical and Laboratory Practice:  Establish the paradigm of genomic medicine by issuing statements and evidence-based or expert clinical and laboratory practice guidelines and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical geneticists, other health professionals and the public and grow the genetics workforce. 3) Advocacy: Work with policymakers and payers to support the responsible application of genomics in medical practice. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG’s website ( offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Find a Geneticist tool. The educational and public health programs of the American College of Medical Genetics are dependent upon charitable gifts from corporations, foundations, and individuals through the ACMG Foundation for Genetic and Genomic Medicine (


About the ABIM Foundation

The mission of the ABIM Foundation is to advance medical professionalism to improve the healthcare systems.  We achieve this by collaborating with physicians and physician leaders, medical trainees, healthcare delivery systems, payers, policymakers, consumer organizations and patients to foster a shared understanding of professionalism and how they can adopt the tenets of professionalism in practice.  To learn more about the ABIM Foundation, visit


About Choosing Wisely

First announced in December 2011, Choosing Wisely is part of a multi-year effort led by the ABIM Foundation to support and engage physicians in being better stewards of finite healthcare resources. Participating specialty societies are working with the ABIM Foundation and Consumer Reports to share the lists widely with their members and convene discussions about the physician’s role in helping patients make wise choices.