Expanded genetic screening panel for the Ashkenazi Jewish population

Brett Baskovich, Susan Hiraki, Kinnari Upadhyay, Philip Meyer, Shai Carmi, Nir Barzilai, Ariel Darvasi, Laurie Ozelius, Inga Peter, Judy H. Cho, Gil Atzmon, Lorraine Clark, Jin Yu, Todd Lencz, Itsik Pe'Er, Harry Ostrer, Carole Oddoux

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Purpose:Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.Methods:Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.Results:A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.Conclusion:Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.

Original languageEnglish (US)
Pages (from-to)522-528
Number of pages7
JournalGenetics in Medicine
Volume18
Issue number5
DOIs
StatePublished - May 1 2016

Fingerprint

Genetic Testing
Mutation
Population
Genome
Incidence
Genomics
Databases

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Baskovich, B., Hiraki, S., Upadhyay, K., Meyer, P., Carmi, S., Barzilai, N., ... Oddoux, C. (2016). Expanded genetic screening panel for the Ashkenazi Jewish population. Genetics in Medicine, 18(5), 522-528. https://doi.org/10.1038/gim.2015.123

Expanded genetic screening panel for the Ashkenazi Jewish population. / Baskovich, Brett; Hiraki, Susan; Upadhyay, Kinnari; Meyer, Philip; Carmi, Shai; Barzilai, Nir; Darvasi, Ariel; Ozelius, Laurie; Peter, Inga; Cho, Judy H.; Atzmon, Gil; Clark, Lorraine; Yu, Jin; Lencz, Todd; Pe'Er, Itsik; Ostrer, Harry; Oddoux, Carole.

In: Genetics in Medicine, Vol. 18, No. 5, 01.05.2016, p. 522-528.

Research output: Contribution to journalArticle

Baskovich, B, Hiraki, S, Upadhyay, K, Meyer, P, Carmi, S, Barzilai, N, Darvasi, A, Ozelius, L, Peter, I, Cho, JH, Atzmon, G, Clark, L, Yu, J, Lencz, T, Pe'Er, I, Ostrer, H & Oddoux, C 2016, 'Expanded genetic screening panel for the Ashkenazi Jewish population', Genetics in Medicine, vol. 18, no. 5, pp. 522-528. https://doi.org/10.1038/gim.2015.123
Baskovich, Brett ; Hiraki, Susan ; Upadhyay, Kinnari ; Meyer, Philip ; Carmi, Shai ; Barzilai, Nir ; Darvasi, Ariel ; Ozelius, Laurie ; Peter, Inga ; Cho, Judy H. ; Atzmon, Gil ; Clark, Lorraine ; Yu, Jin ; Lencz, Todd ; Pe'Er, Itsik ; Ostrer, Harry ; Oddoux, Carole. / Expanded genetic screening panel for the Ashkenazi Jewish population. In: Genetics in Medicine. 2016 ; Vol. 18, No. 5. pp. 522-528.
@article{c47451970df24c1dace25e07dfc41659,
title = "Expanded genetic screening panel for the Ashkenazi Jewish population",
abstract = "Purpose:Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.Methods:Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.Results:A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.Conclusion:Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.",
author = "Brett Baskovich and Susan Hiraki and Kinnari Upadhyay and Philip Meyer and Shai Carmi and Nir Barzilai and Ariel Darvasi and Laurie Ozelius and Inga Peter and Cho, {Judy H.} and Gil Atzmon and Lorraine Clark and Jin Yu and Todd Lencz and Itsik Pe'Er and Harry Ostrer and Carole Oddoux",
year = "2016",
month = "5",
day = "1",
doi = "10.1038/gim.2015.123",
language = "English (US)",
volume = "18",
pages = "522--528",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Expanded genetic screening panel for the Ashkenazi Jewish population

AU - Baskovich, Brett

AU - Hiraki, Susan

AU - Upadhyay, Kinnari

AU - Meyer, Philip

AU - Carmi, Shai

AU - Barzilai, Nir

AU - Darvasi, Ariel

AU - Ozelius, Laurie

AU - Peter, Inga

AU - Cho, Judy H.

AU - Atzmon, Gil

AU - Clark, Lorraine

AU - Yu, Jin

AU - Lencz, Todd

AU - Pe'Er, Itsik

AU - Ostrer, Harry

AU - Oddoux, Carole

PY - 2016/5/1

Y1 - 2016/5/1

N2 - Purpose:Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.Methods:Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.Results:A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.Conclusion:Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.

AB - Purpose:Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.Methods:Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.Results:A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.Conclusion:Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.

UR - http://www.scopus.com/inward/record.url?scp=84964884475&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84964884475&partnerID=8YFLogxK

U2 - 10.1038/gim.2015.123

DO - 10.1038/gim.2015.123

M3 - Article

C2 - 26334176

AN - SCOPUS:84964884475

VL - 18

SP - 522

EP - 528

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 5

ER -