TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES

Tay-Sachs disease (TSD) is an autosomal recessive, progressive, and fa tal neurodegenerative disorder. Within the last 25 years, the discover y of the enzymatic basis of the disease, the deficiency of the enzyme hexosaminidase A, has made possible both enzymatic diagnosis of TSD an d heterozygote identification. TSD is the first genetic condition for which a community-based heterozygote screening program was attempted w ith the intention of reducing the incidence of a genetic disease. In t his article we review the clinical, biochemical, and molecular feature s of TSD as well as the development of laboratory technology that has been deployed in community genetic screening programs. We describe the assay procedures used and some of the limitations in their accuracy. We consider the impact of DNA-based technology on the process of ident ification of individuals carrying mutant genes associated with TSD and we discuss the social context within which genetic screening occurs.