P274: Development of a clinical global impressions (CGI) scale for individuals with Kabuki syndrome
months, p<0.0001).Across both cohorts, compared to White individuals, Black and Hispanic individuals were found to have a longer time to testing (White 15.67 months; Black 16.87 months; Hispanic 17.40 months, p<0.005).The overall positive diagnostic rate was higher for O-STP than I-STP (15.94% vs 13.14%, p<0.0001).Lastly, logistic regression analysis revealed that ethnicity, sex, age of onset and time to testing all significantly affected molecular diagnosis rate.Conclusion: We found unexpected differences among race/ethnicity groups and SES of patients who underwent genetic testing I-STP vs O-STP, highlighting inequity among marginalized groups compared to White individuals.Our study was limited to the experience of one commercial laboratory.Though we analyzed variables known to contribute to pediatric epilepsy, additional confounding factors may be unknown.This demands further research on the relative importance of factors that affect access to genetic testing, such as provider awareness, perceived clinical utility of genetic testing, and systemic health inequities through a biopsychosocial lens.Ultimately, significantly more patients were tested I-STP and, notably, they had a shorter time from clinical diagnosis to genetic testing and a similar molecular diagnosis rate as individuals whose testing was performed O-STP.
Authors
- Jacqueline Harris (ORCID: https://orcid.org/0000-0001-8465-2142)
- Brittany Simpson (ORCID: https://orcid.org/0000-0002-8643-0161)
- Dima Qu’d
- Chi‐Chung Tang
- Kavya Avancha
- Lauren Meier
- Jessica Weatherstone
Institutions
- Kennedy Krieger Institute (US)
- St. Jude Children's Research Hospital (US)
- Alabama College of Osteopathic Medicine (US)
- Rome Foundation (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102239
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00