Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing

Genetic counselors have both the burden and the privilege of supporting patients who are faced with making difficult decisions. In the prenatal setting, genetic counselors are responsible for reviewing a growing list of prenatal testing options for patients with the goal of helping people to anticipate the potential consequences of their decision. Prenatal genetic counselors also support patients in making decisions about the next steps after clinical evaluation has indicated a genetic condition, birth defect, or information of uncertain clinical significance in the fetus. The information provided and choices patients face in the context of prenatal and reproductive genetics can be life-altering, and decisions often must be made within a short window of time. It is imperative that the needs and preferences of each patient are considered and that individuals are empowered to make active decisions that are consistent with their needs and values. Here we will review the history of the role of the genetic counselor in the prenatal setting and will provide strategies and tools for supporting informed patient decision-making in the face of an increasingly complex reproductive genetic testing landscape.