Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
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Taruscio Domenica, Salvatore Marco, Lumaka Aimè, Carta Claudio, Cellai Laura L, Ferrari Gianluca, Sciascia Savino, 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, Scaria Vinod, Jamuar Saumya S, Shotelersuk Vorasuk, Roccatello Dario, Gahl William A, Wiafe Samuel A, Bodamer Olaf, Posada Manuel
Аннотация
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.