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A shkenazi J ewish population screening for T ay– S achs disease: The International and A ustralian experience
Author(s) -
Lew Raelia M,
Burnett Leslie,
Proos Anné L,
BarlowStewart Kristine,
Delatycki Martin B,
Bankier Agnes,
Aizenberg Harry,
Field Michael J,
Berman Yemima,
Fleischer Ronald,
Fietz Michael
Publication year - 2015
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.12632
Subject(s) - medicine , primary care , population , family medicine , disease , gynecology , environmental health
Internationally, T ay‐ S achs disease ( TSD ) preconception screening of A shkenazi J ewish ( AJ ) individuals and couples has led to effective primary prevention of TSD . In A ustralia, adolescent preconception genetic screening programs operate mainly in J ewish community high schools. These existing programs offer an effective means of primary prevention of TSD , are cost effective and safe. However, in the broader A ustralian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of A ustralian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre‐conception and antenatal screening for TSD . The evidence was assessed using an established N ational H ealth and M edical R esearch C ouncil evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost‐benefit and cost‐utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting.