1、White Paper Global Data Access for Solving Rare Disease A Health Economics Value Framework February 2020 World Economic Forum 91-93 route de la Capite CH-1223 Cologny/Geneva Switzerland Tel.: +41 (0)22 869 1212 Fax: +41 (0)22 786 2744 Email: contactweforum.org www.weforum.org 2020 World Economic For
2、um. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, including photocopying and recording, or by any information storage and retrieval system. 3Global Data Access for Solving Rare Disease: A Health Economics Value Framework Contents 4 5 6
3、 9 10 18 22 24 25 Foreword Executive summary Introduction How to examine the benefits of rare-disease data federations Impact of federated data systems on known benefits Gap analysis Conclusion Contributors Endnotes 4Global Data Access for Solving Rare Disease: A Health Economics Value Framework For
4、eword The need to reframe our approach and response to rare disease is urgent. Approximately 10% of the global population or 475 million people are affected by a rare condition,1 with an estimated 15.2 million individuals expected to have clinical genomic testing for a rare condition within the next
5、 five years.2 The number of countries with national initiatives to sequence patients with rare diseases, as well as healthy individuals, is growing. This genomic data, coupled with phenotypic and clinical data, represents a treasure trove of information critical for shortening the diagnostic odyssey
6、 faced by rare-disease patients and for powering research and innovation in diagnostics and therapeutics. We believe that federated data systems offer a promising approach, providing researchers and clinicians with access to global rare-disease datasets while allowing local institutions to protect s
7、ensitive personal health data and recognize cultural and ethical expectations about data protection and privacy. The Forums Breaking Barriers to Health Data pilot project aims to develop and test a proof of concept of how to set up federated data systems, using the case study of accelerating rare-di
8、sease research, diagnosis and eventual treatment. Compelling as it is to help rare-disease patients from a moral and ethical point of view, we nonetheless kept receiving requests to justify, from an economics perspective, the investment involved in setting up a federated data system. Thus, we are gr
9、ateful to the authors of this white paper for elucidating the potential large-scale economic benefits offered by federating data across countries, by improving diagnostic benefit and shortening diagnostic odysseys for patients and their families. The need to share and compile genomic and other healt
10、h data is crucial and time-sensitive, with millions of people with rare diseases continuing to die each year often before reaching a diagnosis. Yet we are currently missing a value framework with which to evaluate such an investment. Federated data systems not only help us to do the right thing mora
11、lly and ethically, they could also enable economic returns in the form of correcting misdiagnoses, shortening the time to a diagnosis, enabling more precise clinical trials and providing curative treatments with long-term economic benefit. Genya Dana, Head of Precision Medicine, Shaping the Future o
12、f Health and Healthcare, World Economic Forum Arnaud Bernaert, Head of Health and Healthcare, Shaping the Future of Health and Healthcare, World Economic Forum 5Global Data Access for Solving Rare Disease: A Health Economics Value Framework Executive summary Rare diseases have been an increasing are
13、a of focus as three waves have converged in recent years: the continuing innovation stemming from the genomic revolution, the regulatory financial incentives put in place by the US government for rare-disease therapies, and the increasingly mobilized, coordinated and sophisticated patient community.
14、 However, the very nature of rare diseases calls for scientific and societal collaboration on an unprecedented scale. Federated data systems are one such example of this scale. A federated data system is a type of meta-database made up of constituent databases that are transparently interconnected,
15、but not merged an important point for security and privacy concerns. The result is a robust and well-annotated dataset that in the case of rare diseases can be contributed to and queried by different countries to enable global and country-specific solutions to diagnosis, treatment, patient trial rec
16、ruitment, and management. The development and maintenance of federated data systems is one of the many investments countries could make in the name of scientific collaboration but is it the right one? This paper reviews the “known knowns and known unknowns” of a federated data system solution to the
17、 unmet needs of people living with rare diseases. Ultimately, investment will be required to confirm and test the value propositions put forth in this paper. Our aim is to enumerate these value propositions along the lines of diagnostic benefit, clinical benefit, clinical trial benefit and personal
18、benefit to individuals living with a rare disease. This will help collaborating nations to understand whether federated data systems are a best-fit solution to the global challenges inherent in rare-disease diagnosis and treatment plans. 6Global Data Access for Solving Rare Disease: A Health Economi
19、cs Value Framework Introduction Rare diseases pose a grave challenge both in their prevalence and in their cost to national healthcare systems. Despite the “rare” in the name, rare diseases, or rare conditions as they are also termed, are anything but rare; rare diseases affect an estimated 10% of t
20、he global population, with more than 7,000 identified so far (as improvements in genomics further expand this number) affecting an estimated 475 million people globally.3 Rare diseases also disproportionately affect children, with 80% of rare diseases caused by genetic or genomic variants.4,5 The de
21、vastating consequences of rare disease in terms of mortality, morbidity and economic burden to the health system are clear, given that one-third of children with a rare disease die before they reach their fifth birthday and one in three hospital beds in paediatric hospitals are occupied by children
22、with a rare disease.6 The average time to diagnosis is seven years, and the chance of a treatment for a rare disease is less than 5%.7 Despite affecting hundreds of millions of people globally, the cost of rare disease, and by corollary the opportunity for savings, continues to increase. The Genetic
23、 Alliance UK reported that rare diseases are a “significant economic burden”, though there is insufficient evidence available to perform a thorough cost evaluation.8 Currently, we have comprehensive data on only the 5% of rare diseases with US Food and Drug Administration (FDA)-approved treatments.
24、Of the very few studies looking at the cost of illness, most focus on a specific rare disease. One study focused on the costs associated with living with Niemann-Pick disease type C in the UK surveyed patients to estimate an annual cost of $51,095 (39,168): 46% related to direct medical costs, 24% r
25、elated to direct non-medical costs and 30% related to indirect costs.9 For instance, overall, the available studies looking at the costs of living with a rare disease indicate that a significant proportion of costs are shifted to patients, the families of patients and their non-medical providers.10
26、It is crucial to continue to measure cost as a first step, and also to consider costs from multiple perspectives. The Genetic Alliance UK estimates that the UKs National Health Service (NHS) In their own words: people affected by rare disease Heather Renton, Australia, parent to a daughter with a ra
27、re disease, Founder and Chief Executive Officer, Syndromes Without A Name (SWAN) Australia We waited more than nine years for a diagnosis for our daughter. In that time, I estimate we spent more than $50,000 on therapy, clinical appointments and equipment, not to mention loss of wages as I had to re
28、sign from my job to care for my daughter. We have wonderful genetic services that offer genomic tests, but for many Australians the cost and access to them is prohibited as there is very little government funding to pay for them. Even with the test, the average diagnosis rate is 4060%. The average t
29、ime for a diagnosis is nine years. In that time, parents experience high rates of isolation, depression, anxiety, confusion and frustration. The emotional impact of diagnosis is huge and very little research has been done on the cost to parents/carers of managing their mental health or the mental he
30、alth dollars saved as a result of people receiving a diagnosis. Then there are the economic savings made by “social precision medicine”. Social precision medicine occurs when personal experiences, emotions, coping strategies, medication and therapies are discussed with other people with the same con
31、dition the knowledge derived from their peers is used to influence a diagnosis and treatment plans. There is more to a diagnosis than a name. Krissa Harris, USA, parent of Hattie, who has a rare disease The cost of having a child with a rare disease goes far beyond the financial impact. Yes, there a
32、re extra costs in having everything adapted (seating, clothing, strollers, toys, beds, showers, schools, homes and cars, to name a few), as well as prescriptions, diapers, doctors visits, medical procedures and more. These extra expenses will remain for the duration of that persons life, not just 18
33、 years. But whats often not considered is the toll it takes on the caregivers. There is definitely a “cost” to providing care 24/7 for a lifetime. It comes in the form of poor health, depression, divorce, loneliness. My hope going forward would be to treat the medical issues of the person with the r
34、are disorder, but also the caregivers, to ensure a better quality of life for all involved. 7Global Data Access for Solving Rare Disease: A Health Economics Value Framework spent $19.6 billion (15 billion), or 10% of total NHS spending, on rare diseases categorized as “specialized services” in the y
35、ear 2016 alone excluding all primary- care costs, social-care costs and costs to patients and their families. Given the number of rare diseases, the significant time needed to reach a diagnosis and the lack of treatments available, more answers are needed for people with rare diseases from a global,
36、 collective approach. Since 80% of rare diseases are genetic, the role genomics plays in diagnosing and treating rare diseases cannot be overestimated. Sharing genomic data has the potential to unlock significant findings within the context of rare diseases. But the nature of genomic information req
37、uires generating and interrogating a high volume of data in order to yield the utmost benefit. Data sharing is an opportunity to more efficiently and effectively draw on the datasets we already have in isolated data resources to generate new findings that could be applicable to people with rare dise
38、ases currently living without answers. As we enter a new decade, a person with a rare disease in the UK, a person with a rare disease in the US, a person with a rare disease in Australia and a person with a rare disease in Canada could confirm a diagnosis of their disease by comparing similar genomi
39、c characteristics, but such an exercise is not easily legally feasible due to the complex data-policy landscape. National, regional and international regulations such as the General Data and Privacy Regulation (GDPR) in Europe and the Health Insurance Portability and Accountability Act (HIPAA) in th
40、e US hinder many routes to data sharing that would otherwise unlock the opportunity for people with rare disease or their clinicians to share their genomic and clinical data. While the complex data policy and regulatory landscape across countries makes direct data sharing difficult, federated data s
41、ystems offer a potential solution. A federated data system is an approach that allows for both local autonomy and global innovation at scale. A federated data system enables instantaneous, trustworthy access to datasets across countries or institutional locations via a decentralized architecture pow
42、ered by application programming interfaces (APIs).11 As outlined in Figure 1 (shown on the next page), APIs provide reliable access to data and ensure interoperability in dataset readability. Building APIs and negotiating the agreements and frameworks required to address data privacy, security and a
43、ccess in a federated data system is an investment that is under-explored both in terms of the initial cost and in system maintenance for a genomic data use case. General API development a far simpler use case is in the range of $15,000$25,000, with maintenance running at $650$1,350 per month. Howeve
44、r, the cost of building a custom federated data system for genomic data can be hundreds of thousands of dollars if significant restructuring of datasets is required.12 8Global Data Access for Solving Rare Disease: A Health Economics Value Framework Given that a UK-specific study found that just 258,
45、235 people with rare diseases (out of the UKs total rare-disease population of an estimated 3.5 million people) cost NHS hospitals $4.4 billion (3.4 billion), or an average of $16,958 (13,000) per patient, during a 10-year diagnosis period double the average patient cost over the same 10-year period
46、 of $7,709 (5,910) an investment in a federation as a way to allow access to genomic and other sensitive health data for rare disease diagnosis and treatment could be economically viable.13 If federating data saved even a fraction of this cohort from undergoing this same costly 10-year diagnostic od
47、yssey, could such a data system pay for itself? And even if not, could the value of the additional benefits incurred to patients and their families outweigh this investment? This white paper examines the potential benefits arising from investment in a global federated data system that would unlock a
48、ccess to rare-disease data for the purposes of advancing the diagnosis, treatment and management of rare disease. More specifically, it examines the implications of how federations could positively affect healthcare systems, with a specific focus on the US, the UK, Australia and Canada. In this pape
49、r, we identify the potential diagnostic, clinical, clinical trial and personal benefits by globally sharing and allowing access to rare- disease data. Additionally, this paper illuminates the gaps that remain in better understanding the economic landscape of federating data for rare disease. Figure 1: Schematic of federated data system elements and features Source: World Economic Forum, Federated Data Systems: Balancing Innovation and Trust in the Use of Sensitive Data APIAPIAPIAPI Unique business rules Query 9Global Data Acc
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