Equality in Diagnosis for All

People with cystic fibrosis (CF) who are Asian, Black, Indigenous or Latino are less likely to have known, well-described CFTR gene variants. Race and ethnicity are social constructs, but the frequency of gene variants or mutations reflects a person’s ancestry or where their family/ancestors originate from. Genetic panels for diagnosis often only include CFTR variants or mutations that occur in white or European populations. This creates barriers to people being diagnosed with CF in a timely manner.

Prior Findings

We have shown how commonly used CFTR variant panels miss many people with CF who are Asian, Black, Indigenous or Latino. Dr. McGarry advocates for improved screening to reduce disparities in diagnosis. Dr. McGarry is the lead author of the new Cystic Fibrosis Foundation Newborn Screening Guideline which will bring equality to newborn screening.

Previously, we have genetically sequenced the CFTR gene in people with cystic fibrosis who live in the Dominican Republic and Puerto Rico. Despite these two countries being close geographically, we found the variant frequency was quite different.

Key Publications


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