P273: A decade of rapid exome sequencing at a tertiary care center

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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Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102238
Primary Topic
Genomics and Rare Diseases
Type
article
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article

P273: A decade of rapid exome sequencing at a tertiary care center

Jacquelyn Britton, Ada Hamosh, Blair Swartz, Nadav I. Weinstock et al.
Genetics in Medicine Open
Genomics and Rare Diseases
article

P273: A decade of rapid exome sequencing at a tertiary care center

Jacquelyn Britton, Ada Hamosh, Blair Swartz, Nadav I. Weinstock, Ria Datwani, Sophia Choi, Joann Bodurtha, Carolyn Applegate, Lauren Vitalicia, Tsigereda Adane
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
Johns Hopkins University (US)
Zero hunger
Openalex Percentile: Top 94%
Genomics and Rare Diseases
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P273: A decade of rapid exome sequencing at a tertiary care center — Jacquelyn Britton, Ada Hamosh, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS