Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling

Genetics in Medicine

Volumn 7, Issue 9, 2005, Pages 626-632

  Gason, Alexandra A ^a   Metcalfe, Sylvia A ^a   Delatycki, Martin B ^a,b   Petrou, Vicki ^b   Sheffield, Edith ^b   Bankier, Agnes ^b   Aitken, MaryAnne ^a,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b Genetic Health Services Victoria   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Education; Genetic; Schools; Screening; Tay Sachs disease

Indexed keywords

ADOLESCENT; ARTICLE; BLOOD SAMPLING; COMPARATIVE STUDY; COMPUTER; EDUCATION; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; SCHOOL; SCHOOL HEALTH SERVICE; STATISTICAL SIGNIFICANCE; STUDENT; TAY SACHS DISEASE;

ADOLESCENT; COMPUTER-ASSISTED INSTRUCTION; HETEROZYGOTE DETECTION; HUMANS; JEWS; PATIENT EDUCATION; SPECIMEN HANDLING; STUDENTS; TAY-SACHS DISEASE; VICTORIA;

EID: 28644439126     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000187162.28070.a7     Document Type: Article

References (38)

1. Khoury MJ, McCabe LL, McCabe ER. Population screening in the age of genomic medicine. N Engl J Med 2003;348(1):50-58.
2. Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M. Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet 1974;10:103-134.
3. Kaback MM, Nathan TJ, Greenwald S. Tay-Sachs disease: heterozygote screening and prenatal diagnosis. U.S. experience and world perspective. In: Kaback MM, ed. Tay-Sachs Disease, Screening and Prevention. New York: Alan R. Liss; 1997:13-36.
4. Omenn GS. Public health genetics: an emerging interdisciplinary field for the post-genomic era. Annu Rev Public Health 2000;21:1-13.
5. Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, et al. Teaching about cystic fibrosis carrier screening by using written and video information. Am J Hum Genet 1995;57(1):171-181.
6. Delvin E, Pottier A, Scriver CR, Gold RJ. The application of an automated hexosaminidase assay to genetic screening. Clin Chim Acta 1974;53(1):135-142.
7. Proia RL, Soravia E. Organization of the gene encoding the human beta-hexosaminidase alpha-chain. J Biol Chem 1987;262(12):5677-5681.
8. Myerowitz R, Costigan FC. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem 1988;263(35):18587-18589.
9. Myerowitz R. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc Natl Acad Sci USA 1988;85(11):3955-3959.
10. Arpaia E, Dumbrille-Ross A, Maler T, Neote K, et al. Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature 1988;333(6168):85- 86.
11. Navon R, Proia RL. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. Science 1989;243(4897):1471-1474.
12. Fernandes MJ, Kaplan F, Clow CL, Hechtman P, et al. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Genet Epidemiol 1992;9(3):169-175.
13. Bach G, Tomczak J, Risch N, Ekstein J. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. Am J Med Genet 2001;99(1):70-75.
14. Gason AA, Sheffield E, Bankier A, Aitken MA, et al. Evaluation of a Tay-Sachs disease screening program. Clin Genet 2003;63 (5):386-392.
15. Gason AA, Aitken M, Delatycki MB, Sheffield E, et al. Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program. Genet Med 2004;6(4):226-231.
16. Barlow-Stewart K, Burnett L, Proos A, Howell V, et al. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 2003;40(4):e45.
17. Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psychol 1992; 31(3):301-306.
18. Decruyenaere M, Evers-Kiebooms G, Denayer L, Van den Berghe H. Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 1992;41 (4):189-196.
19. Henneman L, Poppelaars FA, Ten Kate LP. Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria. Genet Med 2002;4 (4):241-249.
20. Jones JM, Nyhof-Young J, Friedman A, Catton P. More than just a pamphlet: development of an innovative computer-based education program for cancer patients. Patient Educ Couns 2001;44(3):271-281.
21. Green MJ, Biesecker BB, McInerney AM, Mauger D, et al. An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. Am J Med Genet 2001;103(1):16-23.
22. Green MJ, McInerney AM, Biesecker BB, Fost N. Education about genetic testing for breast cancer susceptibility: patient preferences for a computer program or genetic counselor. Am J Med Genet 2001;103(1):24-31.
23. Miedzybrodzka Z, Hamilton NM, Gregory H, Milner B, et al. Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach. Eur J Hum Genet 2001;9(12):953-956.
24. Morrell PD. The effects of computer assisted instruction on student achievement in high school biology. Sch Sci Math 1992;92(4):177-181.
25. Rosenstock IM. Why people use health services. Milbank Mem Fund Q 1966;44:94-127.
26. Henneman L, Bramsen I, Van der Ploeg HM, Ader HJ, et al. Participation in preconceptional carrier couple screening: characteristics, attitudes and knowledge of both partners. J Med Genet 2001;38:695-703.
27. Goldstein MS, Greenwald S, Nathan T, Massariki F, et al. Health behaviour and genetic screening for carriers of Tay-Sachs disease - a prospective study. Soc Sci Med 1977;11:515-520.
28. Beck E, Blaichman S, Scriver CR, Clow CL. Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med 1974;291(22):1166-1170.
29. McCabe L. Efficacy of a targeted genetic screening program for adolescents. Am J Hum Genet 1996;59(4):762-763.
30. Mitchell J, Scriver CR, Clow CL, Kaplan F. What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet 1993;30(7):538-542.
31. Mitchell JJ, Capua A, Clow C, Scriver CR. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet 1996;59(4):793-798.
32. Motulsky AG. Screening for genetic diseases. N Engl J Med 1997;336(18):1314-1316.
33. Rozenberg R, Pereira L. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program. Sao Paulo Med J 2001;119(4):146-149.
34. Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, et al. Lack of interest by non-pregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet 1996;58(3):617-627.
35. Payne Y, Williams M, Cheadle J, Stott NC, et al. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. Clin Genet 1997;51(3):153-163.
36. Bekker H, Modell M, Denniss G, Silver A, et al. Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ 1993;306 (6892):1584-1586.
37. Tambor ES, Bernhardt BA, Chase GA, Faden RR, et al. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet 1994;55(4):626-637.
38. Watson EK, Mayall E, Chapple J, Dalziel M, et al. Screening for carriers of cystic fibrosis through primary health care services. BMJ 1991;303:504-507.