Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia.
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. 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.
罕见病影响着全球超过 3 亿人，并日益被视为全球卫生重点议题。这些疾病被纳入联合国可持续发展目标、联合国关于解决罕见病患者面临的挑战的决议，以及世界卫生组织（WHO）预计即将发布的全球罕见病网络和罕见病决议，凸显了它们的重要性。罕见病患者通常面临未满足的健康需求，包括获得筛查、诊断、治疗和全面医疗保健的机会。这些挑战突显了提高认识和采取针对性干预措施的必要性，包括全面教育，特别是在初级保健中。大多数罕见病研究、临床服务和卫生系统都采用了专科护理。世界卫生组织成员国承诺在全民健康覆盖和与健康相关的可持续发展目标中注重初级卫生保健。有鉴于此，国际罕见病研究联合会（IRDiRC）召集了一个全球性、多方利益攸关者工作队，以确定为初级卫生保健提供者提供权力以应对罕见病挑战的主要障碍和机会。
