ELSIcon2022 Paper: The Role of Patient Advocacy Groups Following Prenatal Diagnosis of a Genetic Condition

ELSIcon2022 • Paper • May 27, 2022

Kaitlynn Craig, Marsha Michie, Kirsten Riggan

Little research has been conducted to support the a priori claim that prenatal genetic testing is justified by the advantages of preparation for a child with a genetic condition, or indeed explore what such preparation entails for families receiving a prenatal diagnosis. As part of a larger study creating a conceptual model of prenatal preparation, we conducted 23 qualitative interviews with local and national Patient/Parent Advocacy Groups (PAG) supporting families with genetic conditions, of which 15 specifically support the Down syndrome community. Interviews explored the resources and supports PAGs offer to families and their views on prenatal preparation. PAG representatives stated that the primary advantage of prenatal preparation is to understand and plan for a child’s future medical needs and emotional processing of the diagnosis. All PAGs stressed the importance of presenting accurate and balanced information prenatally, but many mentioned that detailed presentation of potential or adult-onset complications may overwhelm families. Some reported that they did not engage with families prior to the pregnancy continuation decision, feeling their role was to connect families with the larger condition-specific community post-decision. Participants stressed that no parent is ever fully prepared for the birth of any child and that no amount of knowledge can fully prepare someone for the lived experience of raising a child with unique strengths and challenges. Understanding the role of PAGs is crucial to understanding the current landscape of prenatal preparation and to develop ethical guidance on delivering prenatal genetic testing and family support.