Work

Establishing the Medical Actionability of Genomic Variants

Year: 2022

Type: review

Abstract: Actionability is an important concept in medicine that does not have a well-accepted standard definition, nor is there a general consensus on how to establish it. Medical actionability is often conflated with clinical utility, a related but distinct concept. This lack of clarity contributes to practice variation and inconsistent coverage decisions in genomic medicine, leading to the potential for systematic bias in the use of evidence-based interventions. We clarify how medical actionability and clinical utility are distinct and then discuss the spectrum of actionability, including benefits for the person, the family, and society. We also describe applications across the life course, including prediction, diagnosis, and treatment. Current challenges in assessing the medical actionability of identified genomic variants include gaps in the evidence, limited contexts with practice guidelines, and subjective aspects of medical actionability. A standardized and authoritative assessment of medical actionability is critical to implementing genomic medicine in a fashion that improves population health outcomes and reduces health disparities.

Source: Annual Review of Genomics and Human Genetics

DOI: 10.1146/annurev-genom-111021-032401

Authors: Katrina A.B. Goddard, Kristy Lee, Adam H. Buchanan, Bradford C. Powell, Jessica Ezzell Hunter

Institutions: Kaiser Permanente, Kaiser Permanente Center for Health Research, University of North Carolina at Chapel Hill, Geisinger Health System, RTI International

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funders: National Institutes of Health, National Human Genome Research Institute