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Tay-Sachs disease: current perspectives from Australia.
Raelia M Lew1, Leslie Burnett2, Anné L Proos3
1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia ; Department of Obstetrics and Gynaecology, Dentistry and Health Sciences, Faculty of Medicine, The University of Melbourne, Melbourne, Australia.
Tay-Sachs disease (TSD) screening programs in Australian high schools effectively reduce affected births among Ashkenazi Jews. Expanding screening through healthcare providers is recommended for broader community access.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Public Health
Background:
- Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative disorder.
- Ashkenazi Jewish populations have a high carrier frequency (1 in 25) for TSD.
- Current screening primarily targets high school students, leaving many of reproductive age unscreened.
Purpose of the Study:
- To evaluate the effectiveness of Australian high-school-based Tay-Sachs disease (TSD) preconception genetic screening programs.
- To assess the impact of these programs on TSD-affected births within the Ashkenazi Jewish community.
- To inform recommendations for expanding TSD screening to broader Ashkenazi Jewish populations.
Main Methods:
- Analysis of 18 years of data from Australian high-school-based TSD screening programs.
- Review of program uptake, psychological impact, and incidence of TSD-affected births.
- Consideration of recent recommendations for integrating screening into general practitioner and obstetrician care.
Main Results:
- High program uptake and low psychological morbidity observed.
- Significant reduction in expected Tay-Sachs disease-affected births among screened Jewish individuals.
- Majority of reproductive-aged Ashkenazi Jews outside high school programs remain unscreened.
Conclusions:
- High-school-based TSD screening programs are effective in reducing affected births and are well-accepted.
- Expanding genetic screening for TSD and other recessive diseases to Ashkenazi Jewish individuals via healthcare providers is recommended.
- Massively parallel DNA sequencing is anticipated as the future standard for genetic testing.
