Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Abstract

IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden.MethodsIn October 2020, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) launched a survey among its members, belonging to 20 countries across all continents, to map unmet needs and opportunities for patients with URD. The survey was based on questions with open answers and included eight different domains. Conflicting interpretations were resolved in contact with the partners involved.ResultsAll members responded to the survey. The results indicated that the scientific and medical centers make substantial efforts to respond to the unmet needs of patients. In most countries, there is a high awareness of RD issues. Scarcity of resources was highlighted as a major problem, leading to reduced availability of diagnostic expertise and research. Serious equity in accessibility to services were highlighted both within and between participating countries. Regulatory problems, including securing informed consent, difficulties in sending DNA to foreign laboratories, protection of intellectual property, and conflicts of interest on the part of service providers, remain issues of concern. Finally, most respondents stressed the need to strengthen international cooperation in terms of data sharing, clinical research, and diagnostic expertise for URD patients in low and medium income countries.DiscussionThe survey highlighted that many countries experienced a discrepancy between the growing expertise and scientific value, the level of awareness and commitment on the part of relevant parties, and funding bodies. Country-tailored public health actions, including general syllabus of medical schools and of the education of other health professionals, are needed to reduce such gaps.

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

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

“…Based on the results of the pilot survey ( 3 ), this study was developed within the WG to further investigate the main needs for diagnosing undiagnosed patients, aiming to better characterize existing barriers, explore policy aspects, and correlate those needs to national healthcare economics and advocacy organizations.…”

“…To map unmet needs and opportunities, a first pilot survey was launched in October 2020 among the UDNI Developing Nations Working Group (UDNI DN WG, hereafter WG) ( 3 ). The WG is composed of representatives from 20 countries, including developed as well as low- and middle-income countries (LMIC).…”