Enabling and Enhancing Telehealth for Rare Diseases Across the Globe

Telehealth, whose value has been enhanced by the recent COVID pandemic, has the tremendous potential to revolutionize medical care for rare disease patients. Due to multiple factors limiting access to expert care for individuals with more than 700 rare disease conditions, telemedicine has the unique capacity to increase access effectively and efficiently to expert care and information for those who would otherwise have no or limited access. While the demand and use of telehealth have decreased with the pandemic gradually under control, the value and effectiveness of telehealth need to be evaluated and demonstrated for it continued uptake. The undeniable potential of telehealth also needs to be maximized to be most “fit for purpose”, and factors leading to the optimal use cases need to be better understood, as do barriers responsible for suboptimal uptake and use which can serve as opportunities for improvement. In this way, best practice telehealth can be delivered to establish, or enhance and augment efforts to expand local capacity when resources exist to do so.

The Telehealth Task Force aims to (1) conduct survey and systematic review of existing models of telehealth, their uptake and usage by the rare disease community, and their specific value and effectiveness, to identify the factors that enhance or limit their adoptability, sustained use, efficiency/ease of access, and effectiveness in the rare disease community; (2) identify barriers to and opportunities for the use of telehealth to improve access to diagnosis, care, and research experiences for rare disease patients—including technological, legal, cultural, linguistic, healthcare system, and patient/provider factors; and (3) develop “best practices” for introducing telehealth services into communities where they would be most beneficial using realistic and culturally-sensitive approaches, in partnership with local providers.

Plans and Timeline
Formation of a task force including members of other Constituent and Scientific Committees (Q4 2022)
Virtual meetings to develop the process for literature searches (Q1 2022)
Survey and interview for achieving the stated goals (Q2 2022)
Execution of the developed process to identify the key criteria (Q3 2022)
Publication of findings and development of best practices (Q4 2022)

Members (18)

Antoniadou, Victoria – Cyprus Alliance for Rare Disorders, Cyprus
Baynam, Gareth – Rare Care Centre of Western Australia Dept. of Health, Australia
Bloom, Lara – The Ehlers-Danlos Society, UK
Chen, Faye (Co-Chair) – National Institute of Arthritis and Musculoskeletal and Skin Diseases at NIH, USA
Crimi, Marco – Kaleidos SCS, Italy
Della Rocca, Maria – Global Genes, USA
Didato, Giuseppe – Foundation IRCCS Carlo Besta Neurological Institute, Italy
Douzgou Houge, Sofia – Haukeland Universitetssjukehus, Norway
Dua Puri, Ratna – Sir Ganga Ram Hospital, India
Hartman, Adam (Vice-Chair) – National Institute of Neurological Disorders and Stroke at NIH, USA
Jonker, Anneliene – University of Twente, The Netherlands
Kawome, Martina – Sally Mugabe Referral Hospital, Zimbabwe
Mueller, Friederike – Asklepios Hospital, Germany
O’Brien, James – International Prader Willi Syndrome Organisation (IPWSO), Australia
Parisi, Melissa (Co-Chair) – National Institute of Child Health and Human Development at NIH, USA
Ryan, Nuala – NCBRS Worldwide Foundation, Ireland
Thong, Meow-Keong – University of Malaya, Malaysia
Tumiene, Biruté – Vilnius University Hospital Santaros Clinic, Lithuania