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Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
Mavura, Yusuph; Sahin-Hodoglugil, Nuriye; Hodoglugil, Ugur; Kvale, Mark; Martin, Pierre-Marie; Van Ziffle, Jessica; Devine, W Patrick; Ackerman, Sara L; Koenig, Barbara A; Kwok, Pui-Yan; Norton, Mary E; Slavotinek, Anne; Risch, Neil.
Afiliación
  • Mavura Y; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Sahin-Hodoglugil N; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA.
  • Hodoglugil U; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Kvale M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Van Ziffle J; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Devine WP; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Ackerman SL; Department of Pathology, University of California San Francisco, San Francisco, CA.
  • Koenig BA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
  • Kwok PY; Department of Pathology, University of California San Francisco, San Francisco, CA.
  • Norton ME; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA.
  • Slavotinek A; Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA.
  • Risch N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA.
medRxiv ; 2023 May 24.
Article en En | MEDLINE | ID: mdl-37293051
Purpose: It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Methods: Cases (N=845) with suspected genetic disorders underwent ES for diagnosis. Continental genetic ancestry proportions were estimated from the ES data. We compared the distribution of genetic ancestries in positive, negative, and inconclusive cases by Kolmogorov Smirnov tests and linear associations of ancestry with DY by Cochran-Armitage trend tests. Results: We observed no reduction in overall DY associated with any continental genetic ancestry (Africa, America, East Asia, Europe, Middle East, South Asia). However, we observed a relative increase in proportion of autosomal recessive homozygous inheritance versus other inheritance patterns associated with Middle Eastern and South Asian ancestry, due to consanguinity. Conclusions: In this empirical study of ES for undiagnosed pediatric and prenatal genetic conditions, genetic ancestry was not associated with the likelihood of a positive diagnosis, supporting the ethical and equitable use of ES in diagnosis of previously undiagnosed but potentially Mendelian disorders across all ancestral populations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Aspecto: Ethics Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Aspecto: Ethics Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos