Disparities in diagnosis, access to specialist care, and treatment for inborn errors of immunity

MG Lawrence, NL Rider… - The Journal of Allergy …, 2024 - Elsevier
The Journal of Allergy and Clinical Immunology: In Practice, 2024Elsevier
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 the development of
patient registries to inform prevalence, understand the morbidity of these disorders, and
guide the development of clinical trials. However, significant disparities owing to age, race …
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 the development of patient registries to inform prevalence, understand the morbidity of these disorders, and guide the development of clinical trials. However, significant disparities owing 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 and machine learning tools to reduce delays in diagnosis, particularly in rural or less developed areas where access to specialist care is limited.
Elsevier
以上显示的是最相近的搜索结果。 查看全部搜索结果