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 exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.

The informed consent discussion for exome and genome sequencing should include the possibility of secondary findings unrelated to the indication for testing. In addition, before ordering an exome or genome sequencing test, review with the patient the potential benefits (e.g., confirming a suspected genetic diagnosis), potential harms (e.g., psychosocial concerns), limitations of testing (e.g., a mutation may be missed), implications of the test results for family members, and alternatives to exome or genome sequencing.

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


Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, Lipkin SM, Syngal S, Wollins DS, Lindor NM. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015 Nov;33:3660-3667.

ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med. 2015 Jan;17(1):68-9.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG;

American College of Medical Genetics and Genomics. Incidental findings in clinical genomics: a clarification. Genet Med. 2013 Aug;15(8):664-6.

ACMG Board of Directors. Points to consider for informed consent for genome/exome sequencing. Genet Med. 2013 Sep;15(9):748-9.

ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012 Aug;14(8):759-61.