Enabling and Enhancing Telehealth for Rare Diseases Across the Globe

Introduction
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.

Objectives
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 2021)
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 (21)

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