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

Abstract

Introduction: Rare 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.

Methods: In 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.

Results: All 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.

Discussion: The 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.

Keywords: Undiagnosed Diseases; data sharing; developing nations; rare diseases; survey.

Figure 1

Countries participating to the Undiagnosed Rare Diseases Network International (purple), countries included in the Developing Nations Working Group (flag).

Figure 2

Unmet needs to tackle undiagnosed patients. X axis: percentage of response.

Figure 3

Health care organization for diagnosis of complex and rare diseases. Federated health care organization: Brazil, Georgia, Hungary, Italy, Singapore, Spain, Sweden. No organized healthcare system at all: DR Congo, Ecuador, Mexico, Pakistan. Centralized health care organization: Ghana, Mali, Philippines, Sri Lanka, Thailand. Hybrid (Federated and Centralized) health care organization: Australia, India, Turkey, USA.

Figure 4

Health care organization: Expert Centers for RD diagnosis.

Figure 5

Existence of regulations for data sharing with international. Outer circle: Regulations governing data sharing from the general population with international partners; Inner circle: Regulation governing data sharing from the indigenous populations.