Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches

Journal of Community Genetics

Volumn 6, Issue 2, 2015, Pages 137-145

  Shao, Yunru ^a   Liu, Shuling ^a   Grinzaid, Karen ^a,b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE   (United States)

Author keywords

Carrier screening; Community outreach; Genetic education; Jewish genetic diseases

Indexed keywords

ADULT; AGE; ARTICLE; ASHKENAZI JEW; BLOOM SYNDROME; CANAVAN DISEASE; CHI SQUARE TEST; CLERGY; COMMUNITY PROGRAM; CYSTIC FIBROSIS; DATA ANALYSIS; DECISION MAKING; DEMOGRAPHY; DESCRIPTIVE RESEARCH; DIHYDROLIPOADMIDE DEHYDROGENASE DEFICIENCY; DYSAUTONOMIA; FANCONI ANEMIA; FEMALE; FOLLOW UP; FRIEND; GAUCHER DISEASE; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOSITY; HUMAN; HYPERINSULINEMIA; INFORMATION DISSEMINATION; JOUBERT SYNDROME; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MEDICAL RECORD REVIEW; MIDDLE AGED; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; NEMALINE MYOPATHY; NIEMANN PICK DISEASE; PILOT STUDY; PREGNANCY; PRIORITY JOURNAL; QUESTIONNAIRE; RELATIVE; RETROSPECTIVE STUDY; SPINAL MUSCULAR ATROPHY; TAY SACHS DISEASE; UNITED STATES; USHER SYNDROME; WALKER WARBURG SYNDROME; YOUNG ADULT;

EID: 84925504998     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-014-0208-y     Document Type: Article

References (22)

1. American College of Obstetricians and Gynecologists Committee on Genetics (2004) ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 104:425–428
2. American College of Obstetricians and Gynecologists Committee on Genetics (2009) ACOG Committee Opinion No. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 114:950–953
3. Archibald AD, McClaren BJ (2012) Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making. J Commun Genet 3:47–54. doi:10.1007/s12687-011-0067-8
4. Atlanta JFoG (2007) The Jewish community centennial study of Greater Atlanta: 2006 The Jewish Federation of Greater Atlanta
5. Bonham VL, Knerr S, Feero WG, Stevens N, Jenkins JF, McBride CM (2010) Patient physical characteristics and primary care physician decision making in preconception genetic screening. Publ Health Genom 13:336–344. doi:10.1159/000262328
6. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ, Subcommittee on Cystic Fibrosis Screening AoGSCAACoMG (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med Off J Am Coll Med Genet 3:149–154. doi:10.1097/00125817-200103000-00010
7. Gross SJ, Pletcher BA, Monaghan KG, Professional P, Guidelines C (2008) Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med Off J Am Coll Med Genet 10:54–56. doi:10.1097/GIM.0b013e31815f247c
8. Hoffman JD et al (2014) The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. LID. doi:10.1002/pd.4446
9. Janssens S, De Paepe A, Borry P (2014) Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature. J Commun Genet 5:13–29
10. Kaplan F (1998) Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test 2:271–292
11. Klugman S, Schreiber-Agus N, Nazareth S, Evans EA (2013) Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing. Genet Test Mol Biomark 17:763–767
12. Kornreich R, Ekstein J, Edelmann L, Desnick RJ (2004) Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med Off J Am Coll Med Genet 6:415–420. doi:10.1097/01.GIM.0000139510.00644.F7
13. Kronn D, Jansen V, Ostrer H (1998) Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. Arch Intern Med 158:777–781
14. Laurence Kotler-Berkowitz SMC (2003) The National Jewish Population Survey 2000–01. The Jewish Federation, North America
15. Marion JP, Danner DJ, Ballou WR, Marion R, Elsas LJ 2nd (1977) Testing for the Tay-Sachs gene in the Atlanta Jewish population. South Med J 70:833–837
16. Metcalfe SA (2012) Carrier screening in preconception consultation in primary care. J Commun Genet 3:193–203
17. Rosner G, Rosner S, Orr-Urtreger A (2009) Genetic testing in Israel: an overview. Annu Rev Genomics Hum Genet 10:175–192. doi:10.1146/annurev.genom.030308.111406
18. Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R (2010) Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 31:1240–1250. doi:10.1002/humu.21327
19. Strom CM, Crossley B, Fau-Redman JB, Redman JB, Fau-Quan F, Quan F, Fau-Buller A, Buller A, Fau-McGinniss MJ, McGinniss MJ, Fau-Sun W, Sun W (2004) Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet Med Off J Am Coll Med Genet 6:145–152
20. Tighe ESL, Kramer RM, Parmer D (2013) American Jewish Population Estimates: 2012.39
21. Victor Center (2014) JGD Matrix. Victor Center for the Prevention of Jewish Genetic Disease. http://www.victorcenters.org/index.cfm/lets-talk-jgds/.2014
22. Zlotogora J (2009) Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 126:247–253