Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

Abstract

Many new opportunities for population-based screening will be evident in this era of genome-related discovery. Accordingly, some of the experiences with Tay-Sachs disease prevention may be instructive.

Advantages of expanded universal carrier screening: what is at stake?

“…3 Another example regards the Ashkenazi Jewish population, which is at increased risk for several recessively inherited disorders. 4 Initially targeted at Tay-Sachs disease, screening programmes for the Jewish population have expanded since, with panels now including up to 38 diseases. 2 A more recent development is the promotion of universal approaches that offer screening to all individuals regardless of race or ethnicity, for instance carrier screening for cystic fibrosis (CF).…”

Changing trends in carrier screening for genetic disease in the United States

“…One model for carrier screening has been the community wide screening programs for Tay–Sachs disease (TSD) established in the 1970s 2. These programs focused on a single severe disease that had an increased carrier frequency in a recognized ethnic group, Eastern European Ashkenazi Jews.…”

Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population

“…3 The prevalence of TSD in general population is about 1 in 200 000 births, compared to 1 in 2500-3900 among Ashkenazi Jews. [4][5][6] As there is no treatment for TSD, efforts have been focused on prevention by prenatal carrier identification and genetic counseling for carrier couples. 5,6 TSD screening programs, designed to identify disease carriers in Ashkenazi Jewish populations, have successfully reduced the occurrence of the disease in this population.…”

“…[4][5][6] As there is no treatment for TSD, efforts have been focused on prevention by prenatal carrier identification and genetic counseling for carrier couples. 5,6 TSD screening programs, designed to identify disease carriers in Ashkenazi Jewish populations, have successfully reduced the occurrence of the disease in this population. 5 We report the first cases of TSD in the Persian (Iranian) population and identify the disease-causing HEXA mutations in two unrelated families.…”

“…5,6 TSD screening programs, designed to identify disease carriers in Ashkenazi Jewish populations, have successfully reduced the occurrence of the disease in this population. 5 We report the first cases of TSD in the Persian (Iranian) population and identify the disease-causing HEXA mutations in two unrelated families.…”