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A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students
  1. K Barlow-Stewart1,
  2. L Burnett2,3,
  3. A Proos2,3,
  4. V Howell3,
  5. F Huq1,
  6. R Lazarus4,
  7. H Aizenberg5
  1. 1Centre for Genetics Education, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
  2. 2Pacific Laboratory Medicine Services (PaLMS), Northern Sydney Health, St Leonards, NSW 2065, Australia
  3. 3Kolling Institute of Medical Research, University of Sydney, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
  4. 4University of Sydney, Sydney, NSW 2006, Australia
  5. 5Wolper Jewish Hospital, Trelawney Street, Woollahra, NSW 2025, Australia
  1. Correspondence to:
 Dr K Barlow-Stewart, Centre for Genetics Education, Royal North Shore Hospital, Pacific Highway, St Leonards, NSW 2065, Australia; 
 kbarlow{at}med.usyd.edu.au

https://doi.org/10.1136/jmg.40.4.e45

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    Australia has a Jewish population of about 90 000, mostly living in metropolitan Sydney or Melbourne and most are of Ashkenazi (northern and central Europe) Jewish origin.1 While community genetic carrier testing programmes for Tay-Sachs disease (TSD) have been established since 1970 and are now operating in various forms in 15 countries,2–4 before 1993 in Australia all TSD laboratory testing was only available through a medical consultation service. Following a two year pilot study,1 the Tay-Sachs Disease Programme (TSDP), organised by the Australasian Community Genetics Programme (ACGP), was established in 1995.

    Knowledge of genetic carrier status allows people an accurate assessment of their risks for having children with conditions such as TSD, enabling at risk couples the opportunity to explore their reproductive options, which may include prenatal testing, adoption, sperm or egg donation, and more recently preimplantation genetic diagnosis.2,5 While decision making in this area is optimally made before pregnancy, there are enormous difficulties in informing those of reproductive age of the availability of genetic carrier testing and its relevance.5

    The ideal age for population screening for autosomal recessive diseases (such as TSD) is therefore early in adulthood, when young people can make mature decisions about testing6 based on information provided in a forum that enables discussion and debate. The high school environment provides that opportunity and it has been successfully shown in Montreal by Mitchell et al7 that screening for genetic carriers for TSD (1973–1992) and β-thalassaemia (1980–1992) can be undertaken over a 20 year period without apparent psychological or sociological harm. As a result, in their study, practically all women in Montreal who were referred for prenatal diagnosis of β-thalassaemia major or TSD had undergone screening in high school. The benefits include enabling informed reproductive choices to be made …

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