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.

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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
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article

P274: Development of a clinical global impressions (CGI) scale for individuals with Kabuki syndrome

Jacqueline Harris, Brittany Simpson, Dima Qu’d, Chi‐Chung Tang et al.
Genetics in Medicine Open
Genomics and Rare Diseases
article

P274: Development of a clinical global impressions (CGI) scale for individuals with Kabuki syndrome

Jacqueline Harris, Brittany Simpson, Dima Qu’d, Chi‐Chung Tang, Kavya Avancha, Lauren Meier, Jessica Weatherstone
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
Kennedy Krieger Institute (US), St. Jude Children's Research Hospital (US), Alabama College of Osteopathic Medicine (US), Rome Foundation (US)
Openalex Percentile: Top 94%
Genomics and Rare Diseases
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P274: Development of a clinical global impressions (CGI) scale for individuals with Kabuki syndrome — Jacqueline Harris, Brittany Simpson, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS