Sequencing as a first-line methodology for cystic fibrosis carrier screening.

ABSTRACT:

Purpose

Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or women considering pregnancy. We assessed the performance of sequencing-based CF screening relative to genotyping, in terms of analytical validity, clinical validity, clinical impact, and clinical utility.

Methods

Analytical validity was assessed using orthogonal confirmation and reference samples. Clinical validity was evaluated using the CFTR2 database. Clinical impact was assessed using ~100,000 screened patients. Three screening strategies were compared: genotyping 23 guideline-recommended variants ("CF23"), sequencing all coding bases in CFTR ("NGS"), and sequencing with large copy-number variant (CNV) identification ("NGS + CNV"). Clinical u

SUBMITTER: Beauchamp KA 

PROVIDER: S-EPMC6831513 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature