Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.

ABSTRACT: Doubts have been raised about the value of DNA-based screening for low-prevalence monogenic conditions following reports of testing this approach using available electronic health record (EHR) as the sole phenotyping source. We hypothesized that a better model for EHR-focused examination of DNA-based screening is Cystic Fibrosis (CF) since the diagnosis is proactively sought within the healthcare system. We reviewed CFTR variants in 50,778 exomes. In 24 cases with bi-allelic pathogenic CFTR variants, there were 21 true-positives. We considered three cases "potential" false-positives due to limitations in available EHR phenotype data. This genomic screening exhibited a positive predictive value of 87.5%, negative predictive value of 99.9%, sensitivity of 95.5%, and a specifici

SUBMITTER: Sugunaraj JP 

PROVIDER: S-EPMC6726623 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature