Advances of Inborn Errors of Metabolism: Ethical Considerations of Care Along Growing Lifespans

Abstract: Advances in newborn screening, biochemical and genetic diagnostics, and treatment have greatly increased the quality of life and life expectancy for people with inborn errors of metabolism. Medical management, including dietary and metabolic pathway-driven therapies that allow patients to reach adulthood with these historically “pediatric” diseases, has also led to concerns about optimal care throughout the lifespan, access to up-to-date resources and high-quality services, and the adequacy of care providers to help manage rare and complex conditions. In our panel discussion, moderated by an experienced pediatric bioethicist, three people from different disciplines will use a case example to discuss the challenges and ethical considerations for people with inborn errors of metabolism and suggest an ethical framework for advancing care of rare inborn errors of metabolism through the lifespan. Our first speaker, a physician specializing in genetics and metabolism, will describe advances in diagnosis and treatment and discuss the lifelong nutritional and dietary challenges for people with metabolic disorders. Our second speaker, a social worker who works with patients who have metabolic disorders and their families, will detail the psycho-social considerations for this population, focusing on transition to adulthood and the use of community-based social supports. Our third speaker, a nurse ethicist with experience caring for pediatric and adult patients with metabolic disorders and who has supported the transition of patients from pediatric to adult settings, will analyze the key ethical challenges for this population and offer an ethical framework to improve long term care and transition considerations.

Keywords: Rare disease, Transition to adulthood