New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of Metabolism

Over the past thirty years, therapeutic options for rare diseases, and particularly, inborn errors of metabolism (IEMs), have expanded tremendously, markedly improving the lives of patients and families, and invigorating clinicians, researchers, and the rare disease community. Concurrently, the increasing availability of treatments has introduced new intricacies to clinical communication and created a growing need for the field to advance its understanding of how to communicate nuanced and complex information to patients and families and support them through the shared decision-making process. In this article, we argue that therapeutic options for IEMs must be considered within a shared decision-making framework and explain why high-quality communication is a requisite for this process. We delineate notable communication and decision-making challenges in the field of genetics and metabolism and recommend that discipline-specific empirical work be conducted. We draw on established scholarship in other fields and review the existing literature related to IEMs. Finally, we advocate for the development of evidence-based tools, standards, and best practices to guide clinicians in supporting families through complex treatment-related decision-making. We propose that research focused on the treatment decision-related communication needs of patients and families be prioritized in the field of genetics and metabolism.

Genet Med. April 13:102581