Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.

Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the immune system. Significant advances have been made in recent years in diagnosis, including using genetic testing and newborn screening; treatment, including precision therapies, gene therapy and hematopoietic stem cell transplant; and development of patient registries to inform prevalence, understand morbidity of these disorders and guide the development of clinical trials. However, significant disparities due to age, race, ethnicity, socioeconomic status, or geographic location exist in all aspects of care of patients with inborn errors of immunity, beginning with delays in diagnosis and further compounded by impaired access to specialist care and treatment, leading to a notable impact on outcomes including morbidity and mortality. Addressing and correcting these disparities will require coordinated, deliberate and prolonged effort. Proposed strategies to improve equity at different levels include public health measures such as implementing universal newborn screening, supporting expanded health insurance coverage for diagnostic testing and treatment, improving access to novel therapeutics in low and middle income countries and developing artificial intelligence / machine learning tools to reduce delays in diagnosis, particularly in rural or less developed areas where access to specialist care is limited.