Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Abstract

While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.

Keywords: Developmental disability; Genetic testing; Intellectual disability; Prenatal diagnosis; Prenatal screening.