Implementing a user-centered, evidence-based clinical guide for communicating out-of-range newborn screening results to families

Abstract

Introduction: Newborn screening (NBS) connects babies with heritable disorders to the treatment and long-term care they need to grow and thrive. However, the uncertainty and emotions parents experience upon receiving out-of-range NBS results can create challenging conditions for communicating nuanced information that requires time-sensitive follow-up. Moreover, the first conversation parents have about NBS results is often with a primary care provider (PCP) who may not be familiar with NBS conditions. Genetic counselors (GCs) provide support and resources to families while helping them navigate the healthcare system. In doing so, GCs can help ensure that initial conversations about out-of-range NBS results meet parents’ informational and emotional needs.
Hypothesis/Purpose: To address these inherent challenges and recognize GCs’ critical role in facilitating communication between PCPs and families, we developed a four-page conversation guide entitled “Communicating Out-of-Range Newborn Screening Results to Parents and Families.” This guide addresses PCPs’ receptiveness to communicating these recommendations, parents’ psychological readiness to receive this unexpected news, and parents’ understanding of the results, next steps to be taken in caring for their baby, and the urgency of follow-up testing.
Methods: We applied an array of communications best practices to develop the guide’s content, structure, format, and layout. We reviewed messaging frameworks for difficult medical conversations and organized the guide’s core communication principles around the “four C’s”: Clarity, Compassion, Continuity of Care, and Connection. To refine the guide, we consulted a GC and other subject matter experts in NBS, genetic disorders, and pediatric care. Their input helped improve the plain language, appropriateness, and tone of the conversation starters and align them with guiding principles. Finally, we conducted usability testing interviews with nine pediatric PCPs and nine parents who had received an out-of-range NBS result or had a family history of genetic conditions.
Results: PCPs and parents indicated that the guide would be useful in facilitating productive conversations about out-of-range NBS results. PCPs singled out the memorable quality of the “four C’s,” the open-ended nature of the conversation starters, and the list of resources, all of which they identified as aids to guide adoption. Several parents said they wished their PCP had used a similar guide when communicating their child’s out-of-range NBS result. Since being made available via the Newborn Screening Information Center website (https://newbornscreening.hrsa.gov/) in December 2024, the guide has been downloaded 234 times.
Conclusions: This guide was developed to support PCPs in delivering out-of-range NBS results to families. The results of our user testing suggest that PCPs responsible for conveying this information will follow communications guidance when its principles align with practical, emotionally intelligent conversation starters. These results also suggest that conversations facilitated by the guide can help parents more fully participate in shared decision-making and improve the quality of follow-up. GCs play an important role in the NBS process by providing consultation to PCPs and support to families. Future development should focus on how best to engage GCs to share this guide with PCPs to facilitate these conversations.