Study Highlights Gaps in Knowledge Among Prenatal Genetic Counselors

Many prenatal genetic counselors are unfamiliar with important concepts related to spinal muscular atrophy (SMA) and its treatment, according to a new study. The study, “Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era,” was published in the Journal of Genetic Counseling.

A genetic counselor, or GC, is a specialist who can help patients understand complicated genetic information and what that information means for their health and family planning. Prenatal GCs specialize specifically in providing information around conception and planning for birth.

“A prenatal GC has an important role [in SMA care] to enable clear communication, shared decision-making, and psychosocial support, which are all critical for families to cope with the impact of diagnosis,” the researchers wrote.