A targeted population carrier screening program for severe and frequent genetic diseases in Israel

Abstract

A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.

Carrier screening in preconception consultation in primary care

“…In Israel, carrier screening for beta-thalassaemia is offered free through a public health system along with carrier screening for Tay-Sachs disease and a number of other conditions (which are typically covered through a national health insurance scheme) more prevalent in the various resident ethnic groups (Zlotogora et al 2009). Screening of non-pregnant women occurs in local family clinics, but the majority of screening typically occurs early in pregnancy in 'maternal and child health clinics', and has resulted in almost two-thirds reduction of babies born with thalassaemia per year since the late 1980s.…”

“…Screening of non-pregnant women occurs in local family clinics, but the majority of screening typically occurs early in pregnancy in 'maternal and child health clinics', and has resulted in almost two-thirds reduction of babies born with thalassaemia per year since the late 1980s. Parents who had affected children knew their carrier status and elected not to have prenatal diagnosis and/or termination (Zlotogora et al 2009). …”

“…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). Increasingly carrier screening for TSD and other conditions is offered as part of ethnicity-based screening prenatally by primary care providers in the USA (Musci and Caughey 2005;Scott et al 2010).…”

Commentary: a sociologist's view on community genetics

“…Israel and the USA, for example, present quite opposite alternatives in regard to carrier screening. In Israel, carrier screening for Tay-Sachs, CF and Familial Dysautonomia is nationally provided to the Jewish population by a governmental body, the Department of Community Genetics in the Ministry of Health, which also provides specific carrier screening and counseling services targeting particular at-risk Arab-Israeli and Bedouin communities (Zlotogora et al 2009). In the USA, there are no state-administered community-based programs and community-based carrier screening is organized solely by patients' organizations and privately provided (Raz 2009).…”

“…In the USA, there are no state-administered community-based programs and community-based carrier screening is organized solely by patients' organizations and privately provided (Raz 2009). Whereas the Israeli Ministry of Health administers a national program for preconceptional CF screening (giving couples at risk the possibility to decide between the different options before the birth of an affected child), the USA and many other western countries focus on neonatal CF screening (Zlotogora 2009).…”