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
- Adriana E. Sedeño-Cortés (ORCID: https://orcid.org/0000-0001-7959-8970)
- Douglas M. Fowler (ORCID: https://orcid.org/0000-0001-7614-1713)
- Alan F. Rubin (ORCID: https://orcid.org/0000-0003-1474-605X)
- Martha Horike‐Pyne
- Runjun D. Kumar (ORCID: https://orcid.org/0000-0001-7369-5956)
- Pankhuri Gupta (ORCID: https://orcid.org/0009-0002-5802-1296)
- Fuki M. Hisama (ORCID: https://orcid.org/0000-0001-7772-7855)
- Andrew Folta
- Jeremy Stone (ORCID: https://orcid.org/0000-0002-7565-2463)
- Andrew B. Stergachis (ORCID: https://orcid.org/0000-0002-1299-3674)
- Lea M. Starita (ORCID: https://orcid.org/0000-0003-2870-5099)
- Brian H. Shirts (ORCID: https://orcid.org/0000-0002-7188-6764)
- Marianne Dubard-Gault (ORCID: https://orcid.org/0000-0002-5735-1819)
- Abbye E. McEwen (ORCID: https://orcid.org/0000-0001-7187-7975)
- Eric Kao
Institutions
- University of Washington (US)
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