P215: Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics

ineligible.From multiracial patients (n=583), 22% were ineligible.From other patients (n=2,927), 22% were ineligible.From White patients (n=4,369), 19% were ineligible.From Ashkenazi Jewish patients (n=258), 17% were ineligible.Compared to White individuals, Black (p<0.001) and Hispanic individuals (p<0.001) were significantly more likely to have a P/LP variant ineligible for HEMT.Of the 10 most frequent modulator ineligible variants, 60% (6/10) could be targeted by HEMT, as they were predicted to result in some CFTR protein production.Conclusion: Differences in modulator eligibility across racial and ethnic groups were seen when CFTR variants were examined in a large cohort of patients receiving CS, reflecting broader disparities in CF treatment eligibility.Our results provide valuable information for educating patients at the time of carrier screening regarding treatment availability for children who may be affected by CF.To promote equitable access to advancements in treatment, further research is needed to determine if some currently ineligible variants are responsive to existing modulator treatment.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102180
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

P215: Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics

Adriana E. Sedeño-Cortés, Douglas M. Fowler, Alan F. Rubin, Martha Horike‐Pyne et al.
Genetics in Medicine Open
Genomics and Rare Diseases
article

P215: Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics

Adriana E. Sedeño-Cortés, Douglas M. Fowler, Alan F. Rubin, Martha Horike‐Pyne, Runjun D. Kumar, Pankhuri Gupta, Fuki M. Hisama, Andrew Folta, Jeremy Stone, Andrew B. Stergachis, Lea M. Starita, Brian H. Shirts, Marianne Dubard-Gault, Abbye E. McEwen, Eric Kao
article en

Abstract

ineligible.From multiracial patients (n=583), 22% were ineligible.From other patients (n=2,927), 22% were ineligible.From White patients (n=4,369), 19% were ineligible.From Ashkenazi Jewish patients (n=258), 17% were ineligible.Compared to White individuals, Black (p<0.001) and Hispanic individuals (p<0.001) were significantly more likely to have a P/LP variant ineligible for HEMT.Of the 10 most frequent modulator ineligible variants, 60% (6/10) could be targeted by HEMT, as they were predicted to result in some CFTR protein production.Conclusion: Differences in modulator eligibility across racial and ethnic groups were seen when CFTR variants were examined in a large cohort of patients receiving CS, reflecting broader disparities in CF treatment eligibility.Our results provide valuable information for educating patients at the time of carrier screening regarding treatment availability for children who may be affected by CF.To promote equitable access to advancements in treatment, further research is needed to determine if some currently ineligible variants are responsive to existing modulator treatment.

Genetics in Medicine OpenVol. 3
University of Washington (US)
Gender equality
Openalex Percentile: Top 94%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.