Carrier Testing

Dor Yeshorim, a genetic testing programme focusing on the ‘genetic compatibility’ of prospective couples in Orthodox Jewish communities in Europe, the US and Israel, is at the centre of our paper. We discuss the specific understandings of risks that enable the effective implementation of the Dor Yeshorim model in Orthodox populations. Furthermore, we compare Dor Yeshorim to the premarital genetic testing programme for thalassaemia in Cyprus and analyse the particular social practices which generate different notions of genetic identity in these two projects. In the Cypriot programme, where individual carrier status is disclosed, unfavourable genetic carrier status is conceptualized on the individual level and often solved by resorting to prenatal genetic diagnosis upon pregnancy. In the case of Dor Yeshorim, where no information on carrier status but only on the ‘genetic compatibility’ of both partners is revealed, a notion of ‘genetic couplehood’ arises which conceptualizes ‘genetic risk’ not individually but as a matter of genetic jointness. If a prospective couple is found out to be ‘genetically incompatible’, marriage plans usually are cancelled. Furthermore, by not disclosing individual carrier information, Dor Yeshorim successfully avoids a pressing issue which ‘secular’ genetic testing programmes struggle with: the peril of ‘knowing too much’.

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimumCFTRmutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or twoCFTRmutations and that ...

A Universal Carrier Test for Mendelian Disease 1 A Universal Carrier Test for the Long Tail of Mendelian Disease Balaji S. Srinivasan1'2'3'1"'*, Jason Flannick1, A. Scott Patterson1, Christopher C. Chang1,4, Tuan Pham1, Sharon Young1, Amit Kaushar5,6,7, James Lee8, Pasquale ...

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimumCFTRmutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or twoCFTRmutations and that ...