Prenatal healthcare providers' Gaucher disease carrier screening practices

Gaucher disease carrier screening is controversial in the medical community. The goal of this study was to explore current Gaucher disease carrier screening practices of prenatal healthcare providers.

Prenatal healthcare providers were invited by email to complete an electronic-based survey.

A total of 1,454 prenatal healthcare providers, including 209 genetic counselors, 450 midwives, and 795 physicians, completed the study. The majority of genetic counselors (n = 208/209, >99%), physicians (n = 415/450, 92%), and midwives (n = 634/795, 80%) currently offer Jewish ancestry disease carrier screening to couples in whom one or both partners are Jewish. Of providers who offer Jewish ancestry disease screening, the majority of genetic counselors (n = 199/208, 96%) and physicians (n = 352/415, 85%) always or sometimes offer Gaucher disease screening whereas the majority of midwives (n = 357/634, 56%) never offer Gaucher disease screening.

This study presents the first report of Gaucher disease carrier screening practices of the prenatal healthcare providers in North America. Our results indicate that Gaucher disease carrier screening is being offered at a high rate within the scope of Jewish ancestry-based carrier screening. This may highlight a need to move away from the debate as to whether Gaucher disease carrier screening should be offered and, instead, focus on how best to provide Gaucher disease carrier screening services.