Expanded genetic screening panel for the Ashkenazi Jewish population.
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.



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.



A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.



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.Genet Med 18 5, 522-528.
Department of Pathology, Montefiore Medical Center, New York, New York, USA.
Brett
B
Baskovich
Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Susan
S
Hiraki
Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Kinnari
K
Upadhyay
Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Philip
P
Meyer
The Faculty of Medicine, Braun School of Public Health, Hebrew University of Jerusalem, Jerusalem, Israel.
Shai
S
Carmi
Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Nir
N
Barzilai
Department of Genetics, Hebrew University of Jerusalem, Givat Ram, Jerusalem.
Ariel
A
Darvasi
Department of Genetics, Icahn School of Medicine at Mount Sinai School of Medicine, New York, New York, USA.
Laurie
L
Ozelius
Department of Genetics, Icahn School of Medicine at Mount Sinai School of Medicine, New York, New York, USA.
Inga
I
Peter
Department of Genetics, Icahn School of Medicine at Mount Sinai School of Medicine, New York, New York, USA.
Judy H
JH
Cho
Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.|Faculty of Natural Science, University of Haifa, Haifa, Israel.
Gil
G
Atzmon
Department of Pathology, Columbia University, New York, New York, USA.
Lorraine
L
Clark
The Feinstein Institute for Medical Research, Manhasset, New York, USA.
Jin
J
Yu
The Feinstein Institute for Medical Research, Manhasset, New York, USA.
Todd
T
Lencz
Department of Computer Science, Columbia University, New York, New York, USA.
Itsik
I
Pe'er
Department of Pathology, Montefiore Medical Center, New York, New York, USA.|Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Harry
0000-0002-2209-5376
H
Ostrer
Department of Pathology, Montefiore Medical Center, New York, New York, USA.|Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA.
Carole
0000-0003-3971-6527
C
Oddoux
D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis