Undiagnosed Diseases; data sharing; developing nations; rare diseases; survey; Humans; Rare Diseases/diagnosis; Surveys and Questionnaires; Public Health, Environmental and Occupational Health
Abstract :
[en] [en] 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.
Disciplines :
Laboratory medicine & medical technology Public health, health care sciences & services
Author, co-author :
Taruscio, Domenica; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Salvatore, Marco; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Lumaka Zola, Aimé ; Université de Liège - ULiège > GIGA > GIGA Cancer - Human Genetics ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Carta, Claudio; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Cellai, Laura L; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Ferrari, Gianluca; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Sciascia, Savino; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy
Groft, Stephen; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States
Alanay, Yasemin; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Turkey
Azam, Maleeha; COMSATS University Islamabad, Islamabad, Pakistan
Baynam, Gareth; Rare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital, Perth, WA, Australia
Cederroth, Helene; Wilhelm Foundation, Stockholm, Sweden
Cutiongco-de la Paz, Eva Maria; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
Dissanayake, Vajira Harshadeva Weerabaddana; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
Giugliani, Roberto; House of Rares, Medical Genetics Service, HCPA, Department Genetics UFRGS and DASA, Porto Alegre, Brazil
Gonzaga-Jauregui, Claudia; International Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico
Hettiarachchi, Dineshani; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
Kvlividze, Oleg; Georgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University, Tbilisi, Georgia
Landoure, Guida; Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali
Makay, Prince; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Melegh, Béla; Department of Medical Genetics, School of Medicine, University of Pécs, Pécs, Hungary
Ozbek, Ugur; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Turkey
Puri, Ratna Dua; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Romero, Vanessa; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador
Scaria, Vinod; CSIR Institute of Genomics and Integrative Biology, New Delhi, India
Jamuar, Saumya S; Singhealth Duke-NUS Genomic Medicine Centre, KK Women's and Children's Hospital, Singapore, Singapore ; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore
Shotelersuk, Vorasuk; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Bangkok, Thailand
Roccatello, Dario; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy
Gahl, William A; National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, United States
Wiafe, Samuel A; Rare Disease Ghana Initiative, Accra, Ghana
Bodamer, Olaf; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States
Posada, Manuel; Rare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII), Madrid, Spain
VSh is supported by Health Systems Research Institute of Thailand (65-040). SJ is supported by National Medical Research Council, Singapore (Grants ID CSAINV21jun-0003 and CIRG22jul-0003).Combined national and international efforts are needed to shorten the diagnostic odyssey, improve the management of RD patients, reduce their morbidity and early mortality, and improve their quality of life and socio-economic potential. Those efforts include enhancing diagnostic services through initiatives such as the NIH Undiagnosed Diseases Network (UDN) () in the USA, the Deciphering Developmental Disorders project (DDD-Africa) () in Africa, the iHOPE Foundation (), the SWIFT Foundation (), the Western Australia public health system (), the Global Commission on Diagnostic Odyssey (), and private funding. The Solve-RD project (Solving the Unsolved RD) (2018–2022), funded by the EU Commission, is an example of a research project on URD (). Finally, the International Rare Disease Research Consortium (IRDiRC) is lending support for the global coordination of research initiatives ().
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