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CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the
Eileen Barr1,2, Brittany Truitt2,3, Andrew Jergel3
1Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.
Insights
Expanding cystic fibrosis transmembrane conductance regulator (CFTR) gene panels for newborn screening (NBS) in Georgia improves early diagnosis rates. However, disparities in detecting CFTR variants among non-Hispanic Black individuals persist, highlighting the need for further equity improvements.
Area of Science:
- Medical Genetics
- Newborn Screening
- Public Health
Background:
- Cystic fibrosis (CF) newborn screening (NBS) aims for early diagnosis but faces disparities in detection times.
- Understanding CFTR variant frequencies in diverse populations is crucial for optimizing NBS algorithms and ensuring health equity.
Purpose of the Study:
- To analyze CFTR allele frequencies and evaluate variant panel performance in Georgia's diverse CF population.
- To inform recommendations for updating the NBS algorithm to improve diagnostic timeliness and equity.
Main Methods:
- Cross-sectional study of 969 individuals with CF in Georgia.
- Calculation of CFTR variant frequencies by race and ethnicity.
- Evaluation of current (Luminex-39) and expanded variant panels for detection rates.
Main Results:
- Georgia's CF population exhibits unique CFTR allelic variability.
- Expanded panels, particularly one with 719 variants, significantly increased case detection (93% to 97%) and two-variant detection (69% to 86%).
- While expanded panels improved detection for minoritized groups, significant disparities remained for non-Hispanic Black individuals compared to non-Hispanic White individuals.
Conclusions:
- Implementing expanded CFTR variant panels in Georgia's NBS program can enhance timely CF diagnosis.
- Further strategies are needed to address and eliminate diagnostic disparities for all demographic groups, particularly non-Hispanic Black individuals.
Abstract:
Cystic fibrosis (CF) newborn screening (NBS) aims to improve outcomes through early diagnosis, yet disparities in time to diagnosis remain. This study examines CFTR allele frequencies and variant panel performance among a diverse CF population in Georgia to inform recommendations for updating the NBS algorithm and improving equity. This cross-sectional study includes 969 people with CF (PwCF) from Georgia's accredited CF centers. CFTR variant frequencies were calculated according to race and ethnicity. Panel performance was evaluated for Georgia's current Luminex-39 variant test and three expanded panels. Statistical analyses compared detection rates across panels and demographic groups. Georgia's diverse CF population demonstrates a unique CFTR allelic variability compared to national data. Increasing panel size enhances case identification. A panel including 719 CF-causing variants from the CFTR2 database significantly improves case detection from 93% to 97% (p = 0.002), as well as two-variant detection from 69% to 86% (p < 0.001). Detection of minoritized PwCF also improves with increasing panel size. However, even using the 719-variant panel, detection of non-Hispanic Black PwCF remains significantly lower compared to non-Hispanic White PwCF (case detection: p = 0.003; two-variant detection: p < 0.001). In conclusion, the use of expanded CFTR panels for NBS in Georgia would enhance timely diagnosis and improve equity.
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