Population Testing for High Penetrance Genes: Are We There Yet?

Recent technological advances make large-scale genetic testing possible. Current guidelines recommend testing in certain clinically affected individuals or those with strong family history (1). The successful use for high-risk groups has led many to consider extending genetic testing to the general population. In this issue, Manchanda and colleagues present a cost-effectiveness analysis of population-based testing for high-penetrance mutations associated with an increased risk of breast and ovarian cancer (2). They conclude that population-based testing of women age 30 years and older for a limited set of genes is more cost-effective for preventing death than genetic testing in women with a personal or a family history. This conclusion differs from a previous cost-effectiveness analysis that did not find population-based BRCA1/2 testing to be cost-effective (3). The previous results were based on a decision-analysis model developed for an Ashkenazi Jewish population that was applied to the general population (4), while the new model was developed using general population estimates (2). We discuss opportunities and challenges of population-based genetic testing and emphasize where additional evidence is needed.

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