NextGen

Clinical Implementation of Carrier Testing Using Next Generation Sequencing (NGS)

NextGen seeks to investigate the integration of whole genome sequencing (WGS) for couples to identify pre-conception carrier status for cystic fibrosis (CF) or other conditions. A randomized clinical trial is conducted to compare couples who receive WGS to couples who receive usual care, with the goal of evaluating the clinical implications of using WGS. 

Additionally, NextGen seeks to validate and interpret of variants to identify "actionable variants" deemed worthy of reporting to doctors and patients.

Furthermore, NextGen also evaluates the ethical and psychosocial implications of expanded carrier screening and incidental findings from WGS. The project will also consider downstream healthcare utilization and costs