Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity.

Mia J Gruzin¹, Jaysen Knezovich², Sarah Poll³, Nicole Schonrock², Swaroop Aradhya³, Leslie Burnett⁴

¹Garvan Institute of Medical Research, Darlinghurst Sydney, NSW 2010, Australia; School of Clinical Medicine, UNSW Medicine & Health, St Vincent's Healthcare Clinical Campus, UNSW Sydney, NSW 2010, Australia.

²Invitae Australia, Alexandria, NSW 2015, Australia.

³Invitae Corporation, San Francisco, CA 94103, USA.

⁴Garvan Institute of Medical Research, Darlinghurst Sydney, NSW 2010, Australia; School of Clinical Medicine, UNSW Medicine & Health, St Vincent's Healthcare Clinical Campus, UNSW Sydney, NSW 2010, Australia; Invitae Australia, Alexandria, NSW 2015, Australia. Electronic address: leslie.burnett@garvan.org.au.

PubMed DOI

Abstract

BACKGROUND: Carrier screening for cystic fibrosis (CF; CFTR gene) identifies individuals at risk of having affected children. Screening was originally developed for populations of European ancestry, in whom disease incidence is highest. Although current American College of Medical Genetics and Genomics (ACMG) guidelines endorse pan-ancestry screening using a 100-variant CFTR panel, it remains uncl…

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