Global health for rare diseases through primary care

• Published in: The Lancet global health Vol. 12; no. 7; pp. e1192 - e1199
• Main Authors: Baynam, Gareth, Hartman, Adam L, Letinturier, Mary Catherine V, Bolz-Johnson, Matt, Carrion, Prescilla, Grady, Alice Chen, Dong, Xinran, Dooms, Marc, Dreyer, Lauren, Graessner, Holm, Granados, Alicia, Groza, Tudor, Houwink, Elisa, Jamuar, Saumya Shekhar, Vasquez-Loarte, Tania, Tumiene, Biruté, Wiafe, Samuel Agyei, Bjornson-Pennell, Heidi, Groft, Stephen
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.07.2024
• Subjects: Global Health; Health Policy; Health Services Accessibility; Humans; Primary Health Care - organization & administration; Rare Diseases - epidemiology; Rare Diseases - therapy; World Health Organization
• ISSN: 2214-109X; 2214-109X
• DOI: 10.1016/S2214-109X(24)00134-7

Rare diseases affect over 300 million people worldwide and are gaining recognition as a global health priority. Their inclusion in the UN Sustainable Development Goals, the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, and the anticipated WHO Global Network for Rare Diseases and WHO Resolution on Rare Diseases, which is yet to be announced, emphasise their significance. People with rare diseases often face unmet health needs, including access to screening, diagnosis, therapy, and comprehensive health care. These challenges highlight the need for awareness and targeted interventions, including comprehensive education, especially in primary care. The majority of rare disease research, clinical services, and health systems are addressed with specialist care. WHO Member States have committed to focusing on primary health care in both universal health coverage and health-related Sustainable Development Goals. Recognising this opportunity, the International Rare Diseases Research Consortium (IRDiRC) assembled a global, multistakeholder task force to identify key barriers and opportunities for empowering primary health-care providers in addressing rare disease challenges.