Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

• DOI: 10.3389/fpubh.2023.1248260
• Publication Date: 2023-09-26T13:46:51Z
• Authors: Savino Sciascia; Dario Roccatello; Marco Salvatore; Claudio Carta; Laura L. Cellai; Gianluca Ferrari; Aimè Lumaka; Stephen Groft; Yasemin Alanay; Maleeha Azam; Gareth Baynam; Helene Cederroth; Eva Maria Cutiong...; Vajira Harshadeva...; Roberto Giugliani; Claudia Gonzaga-J...; Dineshani Hettiar...; Oleg Kvlividze; Guida Landoure; Prince Makay; Béla Melegh; Ugur Ozbek; Ratna Dua Puri; Vanessa I. Romero; Vinod Scaria; Saumya S. Jamuar; Vorasuk Shotelersuk; William A. Gahl; Samuel A. Wiafe; Olaf Bodamer; Manuel Posada; Domenica Taruscio
• Keywords: Science & Technology; 1. No poverty; Infant, Newborn; rare diseases; developing nations; GPD; developing nations; rare diseases; survey; undiagnosed diseases; Global Health; undiagnosed diseases; Undiagnosed Diseases; 3. Good health; Rare Diseases; GPD; Humans; survey; Public Health; Public aspects of medicine; RA1-1270; Health Expenditures; Life Sciences & Biomedicine; Delivery of Health Care; Public, Environmental & Occupational Health

Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there currently up 9,000 different that have been recognized, new discovered every month. Although very few people affected each uncommon disease individually, millions of thought be globally when these conditions considered. Therefore, RDs represent an important public health concern. crucial for clinical care, early correct diagnosis is still difficult achieve in many nations, especially those with low middle incomes. Consequently, sizeable amount overall burden RD attributable undiagnosed (URD). Existing barriers policy aspects impacting care patients URD remain investigated. Methods To identify unmet needs opportunities URD, Developing Nations Working Group Undiagnosed Diseases Network International (DNWG-UDNI) conducted survey among its members, who were from 20 nations. The used mix multiple choice dedicated open questions covering variety topics. explore reported analyze them relation national economical aspects, publicly available data on (a) World Bank ranking; (b) Current expenditure per capita ; (c) GDP (d) Domestic general government (% GDP); (e) Life expectancy at birth, total (years) incorporated our study. Results This study provides in-depth evaluation countries: low-income (3), middle-income (10), high-income (7). When analyzing needs, almost countries ( N = 19) indicated major exist attempting improve UR and/or URD; most report related availability specialized facilities. However, while ranked income showed highest prevalence referred across domains, no specific trend appeared comparing high, upper, low-middle No overt was observed separating current , domestic GDP) life (years). Conversely, both country presence ongoing research. Conclusion We found characteristics varied greatly type system country. pattern terms referral main economic or indicators observed. Our findings highlight importance identifying actionable points (e.g., implemented orphan drug acts registries where not available) order URDs global scale.