Send to

Choose Destination
Genet Med. 2016 Feb;18(2):111-6. doi: 10.1038/gim.2015.69. Epub 2015 May 21.

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.

Author information

Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California San Francisco, San Francisco, California, USA.
Division of Gastroenterology and Hepatology, Department of Medicine, Stanford University School of Medicine, San Francisco, California, USA.
Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California, USA.
Department of Community Health Sciences, Cumming School of Medicine, O'Brien Institute for Public Health, University of Calgary, Calgary, Alberta, Canada.
Philip R. Lee Institute for Health Policy, University of California San Francisco, San Francisco, California, USA.
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.


The American College of Medical Genetics and Genomics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable and should be reported as secondary findings after whole-genome sequencing (WGS). Our aim was to identify published economic evaluations of detecting mutations in these genes among the general population or among targeted/high-risk populations and conditions and identify gaps in knowledge. A targeted PubMed search from 1994 through November 2014 was performed, and we included original, English-language articles reporting cost-effectiveness or a cost-to-utility ratio or net benefits/benefit-cost focused on screening (not treatment) for conditions and genes listed by the ACMG. Articles were screened, classified as targeting a high-risk or general population, and abstracted by two reviewers. General population studies were evaluated for actual cost-effectiveness measures (e.g., incremental cost-effectiveness ratios (ICER)), whereas studies of targeted populations were evaluated for whether at least one scenario proposed was cost-effective (e.g., ICER of ≤$100,000 per life-year or quality-adjusted life-year gained). A total of 607 studies were identified, and 32 relevant studies were included. Identified studies addressed fewer than one-third (7 of 24; 29%) of the ACMG conditions. The cost-effectiveness of screening in the general population was examined for only 2 of 24 conditions (8%). The cost-effectiveness of most genetic findings that the ACMG recommends for return has not been evaluated in economic studies or in the context of screening in the general population. The individual studies do not directly address the cost-effectiveness of WGS.

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center