TY - JOUR
T1 - Undiagnosed diseases
T2 - Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
AU - Taruscio, Domenica
AU - Salvatore, Marco
AU - Lumaka, Aimè
AU - Carta, Claudio
AU - Cellai, Laura L.
AU - Ferrari, Gianluca
AU - Sciascia, Savino
AU - Groft, Stephen
AU - Alanay, Yasemin
AU - Azam, Maleeha
AU - Baynam, Gareth
AU - Cederroth, Helene
AU - Cutiongco-de la Paz, Eva Maria
AU - Dissanayake, Vajira Harshadeva Weerabaddana
AU - Giugliani, Roberto
AU - Gonzaga-Jauregui, Claudia
AU - Hettiarachchi, Dineshani
AU - Kvlividze, Oleg
AU - Landoure, Guida
AU - Makay, Prince
AU - Melegh, Béla
AU - Ozbek, Ugur
AU - Puri, Ratna Dua
AU - Romero, Vanessa
AU - Scaria, Vinod
AU - Jamuar, Saumya S.
AU - Shotelersuk, Vorasuk
AU - Roccatello, Dario
AU - Gahl, William A.
AU - Wiafe, Samuel A.
AU - Bodamer, Olaf
AU - Posada, Manuel
N1 - Publisher Copyright:
Copyright © 2023 Taruscio, Salvatore, Lumaka, Carta, Cellai, Ferrari, Sciascia, Groft, Alanay, Azam, Baynam, Cederroth, Cutiongco-de la Paz, Dissanayake, Giugliani, Gonzaga-Jauregui, Hettiarachchi, Kvlividze, Landoure, Makay, Melegh, Ozbek, Puri, Romero, Scaria, Jamuar, Shotelersuk, Roccatello, Gahl, Wiafe, Bodamer and Posada.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - Undiagnosed Diseases
KW - data sharing
KW - developing nations
KW - rare diseases
KW - survey
UR - https://www.scopus.com/pages/publications/85150339636
U2 - 10.3389/fpubh.2023.1079601
DO - 10.3389/fpubh.2023.1079601
M3 - Artículo
C2 - 36935719
AN - SCOPUS:85150339636
SN - 2296-2565
VL - 11
JO - Frontiers in Public Health
JF - Frontiers in Public Health
M1 - 1079601
ER -
SDG 3 Good Health and Well-being