ELSIcon2022 Paper: Supporting Shared Decision Making for Parents of Infants/Young Children with Disorders/Differences of Sex Development: Creation of a Genetic Testing Decision Aid

ELSIcon2022 • Paper • June 2, 2022

Sophie Lightfoot, Melissa Gardner, Meg Carley, Larry Gruppen, Lauren Mohnach, Jodie Johnson, Dawn Stacey, David Sandberg, Kristina Suorsa-Johnson

Introduction: In many pediatric conditions, such as in disorders/differences of sex development (DSD), parents of infants/young children face multiple options about genetic testing including having no testing done. Each option has potential benefits (e.g., learning cause of condition) and harms (e.g., identification of illnesses that may occur later in life). Findings can also impact parents and siblings, who could be carriers. Our assessment of the decision-making needs of these parents revealed genetic testing was a difficult decision requiring decision support. We aim to outline the creation of a decision aid (DA) to support parental decision making regarding genetic testing.

Methods: Following the Ottawa Decision Aid Template and the Ottawa Personal Decision Guide, a genetic testing DA was developed. Throughout DA creation, individuals with DSD, parents of children with DSD, DSD specialty providers, and shared decision-making researchers provided iterative feedback.

Results: The DA titled, Should our baby/young child with a difference of sex development have genetic testing?, includes information for parents about DSD, about genetic testing options, reasons to choose or avoid genetic testing, and opportunities for parents to rate the importance of features of each option (values clarification exercise). Qualitative feedback was positive, including that the DA would be helpful for families and providers and that the layout was easy to follow.

Conclusions: This DA is a clinical tool and parent resource to promote shared decision making in DSD. Furthermore, as genetic testing is an option for many pediatric conditions, elements of this DA are translatable to other pediatric populations.