Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
Authors: Sciascia Savino , Roccatello Dario , Salvatore Marco , Carta Claudio , Cellai Laura L. , Ferrari Gianluca , Lumaka Aimè , Groft Stephen , Alanay Yasemin , Azam Maleeha , Baynam Gareth , Cederroth Helene , Cutiongco-de la Paz Eva Maria , Dissanayake Vajira Harshadeva Weerabaddana , Giugliani Roberto , Gonzaga-Jauregui Claudia , Hettiarachchi Dineshani , Kvlividze Oleg , Landoure Guida , Makay Prince , Melegh Béla , Ozbek Ugur , Puri Ratna Dua , Romero Vanessa I. , Scaria Vinod , Jamuar Saumya S. , Shotelersuk Vorasuk , Gahl William A. , Wiafe Samuel A. , Bodamer Olaf , Posada Manuel , Taruscio Domenica 
Published: September 2023

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