Elements of genetic counseling for inborn errors of metabolism

Abstract

Individually rare but collectively common, inborn errors of metabolism (IEMs) are genetic disorders of metabolic pathways that result in multisystem dysfunction and may reduce lifespan if untreated. The IEM patient population requires collaborative care from primary care providers such as pediatricians/general practitioners, specialists, metabolic geneticists, dietitians and genetic counselors. Ideally, a patient and his or her family would have regular access to a comprehensive care team, however, some patients may require their primary care provider to manage some aspects of their IEM-related care. There have been many advances in the diagnosis and treatment of IEMs especially since the initiation of newborn screening in the United States for phenylketonuria (PKU) in the 1960s. These advancements have resulted in individuals with IEMs living into adulthood and having children of their own, creating an aging patient population and subsequent needs across this increased lifespan. Genetic counseling is a key component in the care and education of patients with IEMs at the time of the initial diagnosis and beyond. We highlight many genetic counseling concepts and issues that need to be addressed and reassessed over the lifespan of a patient with an IEM. This review is intended to support the patient's primary care provider in recognizing these concepts and issues to reinforce for patients with IEMs in the medical home and the importance of referring for genetic counseling.

Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

“…Biochemical testing of plasma and urine can identify small molecule disorders within a few hours, whereas molecular testing screens for a broader range of conditions and can assist with reproductive counselling for any future pregnancies. 13 Over the next decade, genomic sequencing may become integrated into newborn screening programmes, providing a pathway for pre-symptomatic diagnosis and treatment.…”