Carta Acesso aberto Revisado por pares

A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students

2003; BMJ; Volume: 40; Issue: 4 Linguagem: Inglês

10.1136/jmg.40.4.e45

ISSN

1468-6244

Autores

Kristine Barlow‐Stewart,

Tópico(s)

Autism Spectrum Disorder Research

Resumo

ustralia 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 5While 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. 5he 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 testing 6 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 al 7 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 by those who, in a pre-screening era, may have been ignorant of their genetic carrier status.There has been a reduction in the frequency of these disorders in Montreal of 85%. 6 8 After careful consideration of the strategies for optimising informed participation in community genetic screening programmes that have been trialled internationally, 2 8-11 and in consultation with Jewish community leaders, the ACGP decided that senior students attending high schools operated by the Jewish community were the optimal group for targeted screening in the TSDP.While recognising the demonstrated benefits of a community genetics screening programme targeting adolescents such as that offered in Montreal, a number of authors and national and international guidelines produced by professional bodies and governments have urged caution in their implementation.Carefully evaluated pilot studies with attention to the psychosocial aspects have been called for. 6 8-13 The study of the Sydney high school programme described in this paper is an example of such an evaluation.This paper reports on the evaluation and impact of the programme with high school students who attended the education sessions conducted in participating high schools from 1995-1998.• Three to six years later, there was a high retention of knowledge, low concern, high levels of satisfaction, and no stigma was experienced by genetic carriers, who reported positive intended result use.1 of 8 www.jmedgenet.com

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