Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes.

ABSTRACT:

Background

The number of individuals meeting criteria for genetic counseling and testing for hereditary cancer syndromes (HCS) is far less than the number that actually receive it. To facilitate identification of patients at risk for HCS, Counsyl developed a digital identification tool (digital ID tool) to match personal and family cancer history to National Comprehensive Cancer Network (NCCN) BRCA-related Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, and polyposis testing criteria in one-to-one, automated fashion. The purpose of this study was to validate the ability of the digital ID tool to accurately identify histories that do and do not meet NCCN testing criteria.

Methods

Third-party recorded three-generation pedigrees were retrospectively reviewed by a c

SUBMITTER: Bucheit L 

PROVIDER: S-EPMC6330430 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature