| Summary: | Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal North Shore Hospital, St Leonards, Australia; 3SEALS, Prince of Wales Hospital, Randwick, Australia; 4Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, Australia; 5Department of Clinical Genetics, Austin Health, Heidelberg, Australia; 6Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Australia; 7Department of Obstetrics and Gynaecology, Dentistry and Health Sciences, Faculty of Medicine, The University of Melbourne, Melbourne, Australia Abstract: Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years. Keywords: Tay-Sachs disease, genetic screening, Australia
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