Skip to main content
Premium Trial:

Request an Annual Quote

ACMG Updates Cystic Fibrosis Carrier Screening Guidelines

NEW YORK – The American College of Medical Genetics and Genomics (ACMG) Tuesday released a position statement updating carrier screening recommendations for the CFTR gene that causes cystic fibrosis and related disorders.

The updated recommendations apply only to carrier screening and not to diagnostic testing or to newborn screening and include a list of 100 CFTR variants, building on the previous 23-variant list. All new variants have been established as causative for CF and can be found annotated in the Genome Aggregation Database (gnomAD).

The ACMG said in a statement that it only incorporated well-established pathogenic and likely pathogenic variants out of caution for people who might base reproductive decisions on limited information.

In order to make the list as biogeographically diverse as possible, the organization noted that future updates should reassess the feasibility and utility of incorporating additional information from other population databases.

"When it was originally developed, the previous variant list set the standard for CF carrier screening in the country," said Joshua Deignan, the position statement's lead author and an associate clinical professor in the Department of Pathology and Laboratory Medicine in the David Geffen School of Medicine at UCLA. "Now that our databases and technologies have evolved, it was time to raise the bar and set a new minimum standard. This new recommended variant set should help ensure that CFTR variant detection is more equitable among individuals representing a variety of biogeographic ancestries."

Although the previous CFTR variant list was referred to as the "ACMG-23," the authors of the new position statement do not recommend the term "ACMG-100" for the new variant set.