Screening before pregnancy
Dr. Adele Schneider became interested in genetics as a medical student after visiting a home for children with disabilities. As a medical geneticist, she has witnessed remarkable advances in the field and in practice. “As science was evolving, more diseases became available for testing, and the lab technology supported greater efficiency. Jewish genetic disease testing panels grew out of those advances.”
However, science has outpaced clinical practice. Adele cites the current challenges as physician education, raising the profile of Jewish genetic diseases and, most importantly, screening before pregnancy. “We need providers to ask their patients the right questions, including ancestry. Screening should be recommended if a patient has at least one Jewish grandparent, is the Jewish member of an interethnic couple, or is Jewish and considering the use of donor eggs or sperm.”
Adele encourages physicians to offer screening and counseling to patients before pregnancy so they can make informed family planning decision when the most reproductive options are available. “Couples where each member is a carrier for the same disease can have healthy children. Options such as in vitro fertilization with pre-implantation genetic diagnosis, donor egg/sperm screening and prenatal diagnostic testing make this possible.”
