DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Abstract

Disclaimer: This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

“…These considerations highlighted the need to focus on principles underlying implementation choices. By 2021, recognizing that population screening programs were already taking place across the country, the ACMG published two sets of guidelines, one for organizations [ 2 ] and the second for individuals [ 6 ], outlining what should be considered when unselected populations are screened for highly actionable genes.…”

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel

“…The implementation we describe here leveraged all the opportunities and overcame most of the challenges cited for “non-traditional genetic testing” in the American College of Medical Genetics and Genomics’ “Points to Consider” analyses, including the important roles primary care providers contribute ( Bean et al, 2021 ; Murray et al, 2021 ). Strengths included leadership engagement with tools like a personal genomics test that occurred years prior to beginning the pilot, getting formal buy in from medical center administration with a non-financial business plan, involving diverse stakeholders in the design and implementation process and making it worth their time, and leveraging existing workflows wherever possible.…”

Public Interest in Population Genetic Screening for Cancer Risk

“…A point of consensus for DNA-based screening is that the benefit to harm ratio can be maximized by screening for pathogenic genomic variants in well-understood causative genes for conditions with effective, evidence-based clinical interventions. (Jarvik et al, 2014;Berg et al, 2016;Green et al, 2019;Hendricks-Sturrup et al, 2020;Murray et al, 2020;Bean et al, 2021;Murray et al, 2021).…”