A data-driven evaluation of the size and content of expanded carrier screening panels.

ABSTRACT:

Purpose

The American College of Obstetricians and Gynecologists (ACOG) proposed seven criteria for expanded carrier screening (ECS) panel design. To ensure that screening for a condition is sufficiently sensitive to identify carriers and reduce residual risk of noncarriers, one criterion requires a per-condition carrier rate greater than 1 in 100. However, it is unestablished whether this threshold corresponds with a loss in clinical detection. The impact of the proposed panel design criteria on at-risk couple detection warrants data-driven evaluation.

Methods

Carrier rates and at-risk couple rates were calculated in 56,281 patients who underwent a 176-condition ECS and were evaluated for panels satisfying various criteria. Condition-specific clinical detection rates were es

SUBMITTER: Ben-Shachar R 

PROVIDER: S-EPMC6752311 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature