Prospective registry of multiplex testing (PROMPT): A web-based platform to assess cancer risk of genetic variants.

Abstract

1518Background: Multiplex genetic testing results in detection of pathogenic mutations of low, intermediate and high penetrance, as well as variants of uncertain clinical significance. Methods: A web-based interface was constructed to allow individual patients and families who have had germline panel testing to consent to ongoing research under an IRB approved protocol. Phase one recruitment was facilitated by engagement of 7 commercial testing laboratories, genetic counselors, academic centers and crowd sourcing. Genetic variant, personal and family history, other phenotypic data were recorded. In phase two, individuals will be asked to consent to ascertainment of samples from family members for cosegregation studies, and collection of biospecimens for functional genomic analysis. Data collected will be deposited in public databases. Results: As of January 14th, 2016,1537 individuals from 4 continents have enrolled onto PROMPT. Of these, 34% had no personal history of cancer, 50% were diagnosed with brea...