Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

Raelia M Lew, Anne L Proos, Leslie Burnett, Martin Delatycki, Agnes Bankier and Michael J Fietz
Med J Aust 2012; 197 (11): 652-654. || doi: 10.5694/mja12.11010


Objectives: To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births.

Design, participants and setting: Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal Children’s Hospital Melbourne; Pacific Laboratory Medicine Services, Pathology North, NSW Health Pathology, Sydney; Victorian Clinical Genetics Services, Melbourne; and SA Pathology, Adelaide), and carrier frequency among Jewish high school students attending schools participating in TSD screening programs over the same period.

Main outcome measures: Jewish TSD carrier frequency; and expected versus observed Jewish TSD-affected births.

Results: The 2006 Census indicated that most of the total 88 826 Jewish Australians live in Melbourne (46%) and Sydney (40%). The 7756 Jewish high school students screened for TSD in Sydney and Melbourne during the study period had a carrier frequency of one in 31 (3.26%; 95% CI, 2.89%–3.68%).The estimated expected number of TSD-affected births in Melbourne and Sydney in 1995–2011 was 4.1 for Jewish births and 7.4 for other births (a ratio of Jewish to non-Jewish births of 1:2). The actual number was 12 (four in Sydney and eight in Melbourne), of which two were Jewish (a ratio of Jewish to non-Jewish births of 1:5). This finding of fewer than expected Jewish TSD cases coincided with a period during which screening programs were operating. There have been no Jewish TSD-affected children born to parents who were screened previously.

Conclusion: Community education, appreciation of autosomal recessive inheritance and genetic carrier screening before pregnancy are the likely factors in our finding of fewer than expected Jewish babies with TSD. Ongoing outcome monitoring must continue.

  • Raelia M Lew1
  • Anne L Proos2
  • Leslie Burnett2,3
  • Martin Delatycki4,5
  • Agnes Bankier5
  • Michael J Fietz6

  • 1 Department of Obstetrics, Gynaecology and Neonatology, University of Sydney, Sydney, NSW.
  • 2 Pacific Laboratory Medicine Services, Pathology North, NSW Health Pathology, Royal North Shore Hospital, Sydney, NSW.
  • 3 Northern Clinical School, Royal North Shore Hospital, University of Sydney, Sydney, NSW.
  • 4 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC.
  • 5 Department of Clinical Genetics, Austin Health, Melbourne, VIC.
  • 6 Department of Biochemical Genetics, SA Pathology, Adelaide, SA.


We thank Gary Eckstein and the Jewish Community Appeal for access to commissioned Sydney Jewish community demographic reports. We thank Georgina Luscombe for assistance with statistics and Robert Markham, Raelia Lew’s PhD co-supervisor (both from the University of Sydney). We acknowledge the generous support of the Wolper Jewish Hospital, Sydney, and the Pratt Foundation, Melbourne, for funding genetic testing in high school students.

Competing interests:

No relevant disclosures.

  • 1. Triggs-Raine B, Mahuran DJ, Gravel RA. Naturally occurring mutations in GM2 gangliosidosis: a compendium. Adv Genet 2001; 44: 199-224.
  • 2. Nakai H, Byers MG, Nowak NJ, Shows TB. Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23-q24. Cytogenet Cell Genet 1991; 56: 164.
  • 3. Okada S, O’Brien JS. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science 1969; 165: 698-700.
  • 4. Myerowitz R, Lawson D, Mizukami H, et al. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Molec Genet 2002; 11: 1343-1350.
  • 5. Kaback MM, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease — carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. JAMA 1993; 270: 2307-2315.
  • 6. 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: 793-798.
  • 7. Barlow-Stewart K, Burnett L, Proos A, et al. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 2003; 40: e45.
  • 8. Bach G, Zeigler M, Zlotogora J. Prevention of lysosomal storage disorders in Israel. Mol Genet Metab 2007; 90: 353-357.
  • 9. 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: 70-75.
  • 10. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000; 159 Suppl 3: S192-S195.
  • 11. Ekstein J, Katzenstein H. The DorYeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet 2001; 44: 297-310.
  • 12. Burnett L, Proos AL, Chesher D, et al. The Tay-Sachs disease prevention program in Australia: Sydney pilot study. Med J Aust 1995; 163: 298-300.
  • 13. Ioannou L, Massie J, Lewis S, et al. Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools. Clin Genet 2010; 78: 21-31.
  • 14. DelatyckiMB. Population screening for reproductive risk for single gene disorders in Australia: now and the future. Twin Res Hum Genet 2008; 11: 422-430.
  • 15. Australian Bureau of Statistics. Births, Australia. 1996. Canberra: ABS, 1997. (ABS Cat.No. 3301.0.) 25722E001A39FB?OpenDocument (accessed Oct 2012).
  • 16. Australian Bureau of Statistics. Births, Australia, 2010. Canberra: ABS, 2011. (ABS Cat. No. 3301.0.) (accessed Oct 2012).
  • 17. Australian Bureau of Statistics. Births, summary of birth statistics 2000–2010. Cat. No. 3301.0. Canberra: ABS, 2011. OpenDocument (accessed Oct 2012).
  • 18. Australian Bureau of Statistics. 2006 census of population and housing, Australia (Australia), Religious affiliation by sex — time series statistics (1991, 1996, 2001 census years). Canberra: ABS, 2006. (ABS Cat. No. 2068.0.)
  • 19. Australian Bureau of Statistics. 2006 census of population and housing, Australia (Australia) religious affiliation (a) broad groups by sex. Canberra: ABS, 2006. (ABS Cat. No. 2068.0.)
  • 20. World Health Organization. Control of hereditary diseases: report of a WHO scientific group. Technical report series 865. Geneva: WHO, 1996.
  • 21. Hardy GH. Mendelian proportions in a mixed population. Science 1908; 28: 49-50.
  • 22. Lew R, Burnett L, Proos A. Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage. J Community Genet 2011; 2: 201-209.
  • 23. Przyborowski J, Wilenski H. Homogeneity of results in testing samples from Poisson series: with an application to testing clover seed for dodder. Biometrika 1940; 31: 313-323.
  • 24. Gason AA, Metcalf SA, Delatycki MB, et al. Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling. Genet Med 2005; 7: 626-632.


remove_circle_outline Delete Author
add_circle_outline Add Author

Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article

Responses are now closed for this article.