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Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler, Gidon; Birch, Ashley H; Schreiber-Agus, Nicole; Cai, Xiaoqiang; Cai, Guiqing; Shi, Lisong; Yu, Chunli; Larmore, Anastasia M; Mendiratta-Vij, Geetu; Elkhoury, Lama; Dillon, Mitchell W; Zhu, Jun; Mclellan, Andrew S; Suer, Funda E; Webb, Bryn D; Schadt, Eric E; Kornreich, Ruth; Edelmann, Lisa.
Afiliación
  • Akler G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Birch AH; TOVANA Health, Houston, TX, USA.
  • Schreiber-Agus N; Precision Medicine Insights, P.C., Great Neck, NY, USA.
  • Cai X; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Cai G; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Shi L; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Yu C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Larmore AM; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Mendiratta-Vij G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Elkhoury L; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Dillon MW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Zhu J; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Mclellan AS; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Suer FE; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Schadt EE; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
  • Kornreich R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Edelmann L; Sema4, A Mount Sinai Venture, Stamford, CT, USA.
Mol Genet Genomic Med ; 8(2): e1053, 2020 02.
Article en En | MEDLINE | ID: mdl-31880409
BACKGROUND: Next-generation sequencing (NGS)-based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population-wide targeted testing, as well as Sephardi/Mizrahi Jewish (SMJ) individuals (an underserved population), has not been fully explored. METHODS: The clinical utilization by 6,805 self-reported Jewish individuals of an expanded NGS panel, along with several ancillary assays, was assessed retrospectively. Data were extracted for a subset of 96 diseases that, during the panel design phase, were classified as being AJ-, SMJ-, or pan-Jewish/pan-ethnic-relevant. RESULTS: 64.6% of individuals were identified as carriers of one or more of these 96 diseases. Over 80% of the reported variants would have been missed by following recommended AJ screening guidelines. 10.7% of variants reported for AJs were in "SMJ-relevant genes," and 31.2% reported for SMJs were in "AJ-relevant genes." Roughly 2.5% of individuals carried a novel, likely pathogenic variant. One in 16 linked cohort couples was identified as a carrier couple for at least one of these 96 diseases. CONCLUSION: For maximal carrier identification, this study supports using expanded NGS panels for individuals of all Jewish backgrounds. This approach can better empower at-risk couples for reproductive decision making.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Judíos / Enfermedades Genéticas Congénitas / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Judíos / Enfermedades Genéticas Congénitas / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos