The Israeli national population program of genetic carrier screening for reproductive purposes

Genetics in Medicine

Volumn 18, Issue 2, 2016, Pages 203-206

  Zlotogora, Joël ^a,b,c,d   Grotto, Itamar ^b,c,e   Kaliner, Ehud ^b,c   Gamzu, Ronni ^c  

^a Department of Community Genetics ^*  (Israel)

^b Public Health Services   (Israel)

^c MINISTRY OF HEALTH   (Israel)

^d HEBREW UNIVERSITY   (Israel)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Arabs; Druze; Israel; Jews; population genetic screening

Indexed keywords

ALBINISM; ANHIDROSIS; ARAB; ARTICLE; BODY DYSMORPHIC DISORDER; CANAVAN DISEASE; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHRISTIAN ARAB; COCKAYNE SYNDROME; CONGENITAL ANALGESIA; COSTEFF DISEASE; CYSTIC FIBROSIS; DEVELOPMENTAL DISORDER; DRUZE; DYSAUTONOMIA; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; HEALTH PROGRAM; HETEROZYGOTE DETECTION; HUMAN; HYPOPARATHYROIDISM; INFANTILE CEREBRAL AND CEREBELLAR ATROPHY; ISRAEL; JEW; MAJOR CLINICAL STUDY; MALE; METACHROMATIC LEUKODYSTROPHY; MUSLIM ARAB; NIEMANN PICK DISEASE; OPTIC NERVE DISEASE; PENDRED SYNDROME; PONTOCEREBELLAR HYPOPLASIA; POPULATION RESEARCH; SPINAL MUSCULAR ATROPHY; TAY SACHS DISEASE; ETHNOLOGY; GENETIC DISEASES, INBORN; GENETICS; MASS SCREENING; PUBLIC HEALTH;

FEMALE; GENETIC DISEASES, INBORN; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; MALE; MASS SCREENING; NATIONAL HEALTH PROGRAMS;

EID: 84957674352     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.55     Document Type: Article

References (17)

1. Kaback MM. Screening and prevention in Tay-Sachs disease: origins, update, and impact. Adv Genet 2001; 44: 253-265
2. Koren A, Zalman L, Palmor H., et al. [The prevention programs for beta thalassemia in the Jezreel and Eiron valleys: results of fifteen years experience]. Harefuah 2002; 141: 938-43, 1210
3. Ekstein J, Katzenstein H. The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet 2001; 44: 297-310
4. Zlotogora J, Carmi R, Lev B, Shalev SA. A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet 2009; 17: 591-597
5. Zlotogora J. Genetics and genomic medicine in Israel. Mol Genet Genomic Med 2014; 2: 85-94
6. Statistical Abstracts of Israel, Jerusalem, Israel http://www.cbs.gov.il/ reader/shnatonenew-site.htm.
7. Statistical Abstracts of Israel, Jerusalem, Israel, 2014. http://www.cbs.gov.il/ reader/shnatonenew-site.htm 7. Zlotogora J, Leventhal A. Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?. Isr Med Assoc J 2000; 2: 665-667
8. Sukenik-Halevy R, Leil-Zoabi UA, Peled-Perez L, Zlotogora J, Allon-Shalev S. Compliance for genetic screening in the Arab population in Israel. Isr Med Assoc J 2012; 14: 538-542
9. Zlotogora J, Leventhal A, Amitai Y. The impact of congenital malformations and Mendelian diseases on infant mortality in Israel. Isr Med Assoc J 2003; 5: 416-418
10. Lazarin GA, Haque IS, Nazareth S., et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23, 453 individuals. Genet Med 2013; 15: 178-186
11. Wald NJ, George LM, Wald NM, Mackenzie I. Couple screening for cystic fibrosis. Lancet 1993; 342: 1307-1308
12. Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y. Large-scale population screening for spinal muscular atrophy: clinical implications. Genet Med 2011; 13: 110-114
13. Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Preconceptional and prenatal screening for fragile X syndrome: experience with 40, 000 tests. Prenat Diagn 2007; 27: 991-994
14. Hoffman JD, Park JJ, Schreiber-Agus N., et al. The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn 2014; 34: 1161-1167
15. Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med 2008; 10: 57-72
16. Zidan J, Ben-Avraham D, Carmi S, Maray T, Friedman E, Atzmon G. Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck. Eur J Hum Genet; e-pub ahead of print 5 November 2014
17. Gluck I, Zeigler M, Bargal R, Schiff E, Bach G. Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online. Hum Mutat 1998; 12: 136