Screening and prevention in Tay-Sachs disease: origins, update, and impact.

Publisher Summary This chapter discusses the screening and prevention in Tay-Sachs disease (TSD): origins, update, and impact. Like many other innovations, the education, screening, and counseling program for the prevention of TSD occurred, because of a host of factors: timing, location, events, and most important, people. With the efforts and support of the National Tay-Sachs Disease and Allied Disorders Association, an International Center has been established for the annual survey of worldwide programs involved in TSD screening and prevention. The prevention program strategies were first implemented in 1970. 50–60 infants were diagnosed with TSD each year in the United States and Canada. 90% or greater reduction in the incidence of TSD in the high-risk Jewish population has occurred, undoubtedly contributed to, in large part at least, by the education, screening, and counseling programs targeted to Jewish adults of child-bearing age. This prototype, developed for TSD prevention, has also served as a model for “disease control” in other areas as well. With recent advances in gene isolation and molecular diagnosis, it is likely that comparable efforts targeted to the “control” of other serious hereditary disorders will be mounted in the near future.