Evaluation of a Tay‐Sachs Disease screening program

Abstract

Tay-Sachs Disease (TSD) is an autosomal recessive neurodegenerative disorder. TSD is prevalent in the Ashkenazi Jewish population, and carrier screening programs have been implemented worldwide in these communities. A screening program initiated in 1997 involving the Melbourne Jewish community (Australia) incorporated education, counselling and carrier testing of high-school students aged 15 to 18 years. This study aimed to assess the participation rates, level of knowledge obtained and predicted feelings and attitudes of the students involved. Seven hundred and ten students participated, there was a 67% uptake for testing with a carrier rate of 1 in 28 determined. The level of knowledge of the students following education was high and of relative importance in regard to decision making, as were their feelings and attitudes about genetic testing for carrier status. A significant impediment to test uptake was the need for blood sampling, resulting in a recommendation for the introduction of DNA analysis on cheek brush samples. The evaluation of this program has given a wider scope for further development as well as providing valuable information for the implementation of community screening programs.

Carrier screening in preconception consultation in primary care

“…TSD carrier screening is often conducted within high school programs in Canada (Mitchell et al 1996) and Australia (Gason et al 2003), with seven other conditions now included (Delatycki 2008;Gross et al 2008) but is also offered within the voluntary program in Israel described above (Zlotogora et al 2009). Since 2002, this program now includes targeted carrier screening primarily aimed at non-Ashkenazi Jewish communities in which severe genetic diseases are present with a frequency higher than 1/1,000 live births, performed through local clinics preconceptionally and prenatally (Zlotogora et al 2009).…”

It's ‘back to school’ for genetic screening

“…Some examples include a-and b-thalassaemia in Hong Kong, 19 haemoglobinopathies in Marseille, 20 cystic fibrosis (CF) in Israel 21 and TSD and CF in Australia 15,22 and Canada. 14 In addition, it has been demonstrated in the programme in Sydney, Australia, that carrier screening is comparable in cost to prenatal carrier screening for CF.…”

“…Community gatherings, 12 the workplace 13 and schools 14,15 are nonclinical settings where screening programmes have been offered.…”

“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes

“…Informed consent is therefore considered to be an important component of most genetic screening programs requiring all participants to be appropriately educated about the condition and testing so that informed decisions can be made about undertaking the genetic test offered (Delatycki 2008). Thus, population carrier screening in Australia for genetic conditions such as cystic fibrosis and Tay-Sachs disease is usually offered through formal, coordinated programs (Gason et al 2003;Massie et al 2009). No such program exists for thalassaemia carrier screening (Cousens et al 2010).…”