A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.

ABSTRACT:

Background

Eligibility guidelines for genetic testing may be revisited, given technological advances, plummeting costs, and proposals for population mutation screening. A key property of eligibility criteria is the tradeoff between the number of mutation carriers identified versus population members tested. We assess the fractions of mutation carriers identified, versus women undergoing mutation testing, for BRCA1/2 founder mutation screening in U.S. Ashkenazi-Jewish women.

Methods

BRCA1/2 carrier probabilities, based on personal/family history, were calculated using the risk-prediction tool BRCAPRO for 4,589 volunteers (102 mutation carriers) in the population-based Washington Ashkenazi Study. For each carrier-probability threshold between 0% and 10%, we compa

SUBMITTER: Best AF 

PROVIDER: S-EPMC7451358 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature