Global Data Access for Solving Rare Disease: A Health Economics Value Framework

adult hand touching baby's hand showing plight of children suffering from rare diseases
Image : Photo by Aditya Romans/Unsplash

Rare but not uncommon

Rare diseases are not as rare as you may think. Approximately 10% of the global population or 475 million people are affected by a “rare” condition. But national approaches to rare-disease research fall short due to the lack of combined data and an uncoordinated global approach.

A more integrated system of gathering genomic data offers a solution with potential channels for return on investment.

Only 5% of the 475 million people with rare disease have a treatment. Given that 80% of these diseases have genetic causes (meaning that people tend to be born with a rare disease), sufferers are highly likely to be children, with 30% of them dying before they reach their fifth birthday – often without a diagnosis. More than 450 million people – near the populations of the USA, Australia, Canada, and the UK combined – are living without a treatment or an opportunity to get better

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 resign from my job to care for my daughter.

—Heather Renton – Founder and Executive Officer, Syndromes Without A Name (SWAN) Australia

Rare diseases consume a disproportionate amount of healthcare resources relative to their prevalence. A recent study showed how diagnostic testing and specialist consultations during the first year of a patient’s diagnostic odyssey cost approximately $2,190. For every additional year that a patient remains undiagnosed, a further $592 is incurred. Annual travel costs and caregiver productivity loss associated with attending diagnosis-related medical appointments are estimated at $1,449 per family.

And these are just the direct financial costs. The emotional strain and the impact on many other aspects of life, such as ability to work (carers as well as sufferers) and mental health, are harder to quantify but no less important or costly.

Health and healthcare

How is the World Economic Forum bringing data-driven healthcare to life?

The application of “precision medicine” to save and improve lives relies on good-quality, easily-accessible data on everything from our DNA to lifestyle and environmental factors. The opposite to a one-size-fits-all healthcare system, it has vast, untapped potential to transform the treatment and prediction of rare diseases—and disease in general.

But there is no global governance framework for such data and no common data portal. This is a problem that contributes to the premature deaths of hundreds of millions of rare-disease patients worldwide.

The World Economic Forum’s Breaking Barriers to Health Data Governance initiative is focused on creating, testing and growing a framework to support effective and responsible access – across borders – to sensitive health data for the treatment and diagnosis of rare diseases.

The data will be shared via a “federated data system”: a decentralized approach that allows different institutions to access each other’s data without that data ever leaving the organization it originated from. This is done via an application programming interface and strikes a balance between simply pooling data (posing security concerns) and limiting access completely.

The project is a collaboration between entities in the UK (Genomics England), Australia (Australian Genomics Health Alliance), Canada (Genomics4RD), and the US (Intermountain Healthcare).

  • 10%
    Of the global population is affected by a rare disease
  • 7,000
    Rare diseases have been identified
  • 475m
    People globally are estimated to have a rare disease
  • 80%
    Of rare diseases have genetic or genomic causes and therefore affect children disproportionately
  • 30%
    Of children with a rare disease die before they reach their fifth birthday
  • 1 in 3
    Hospital beds in paediatric hospitals are occupied by children with a rare disease
  • 7 years
    Average time to diagnosis
  • 5%
    Or less for a chance of treatment for a rare disease

It’s all in the genes

The genomic nature of rare disease suggests an opportunity. By bringing together genomic, phenotypic, and clinical data at a global scale, individual countries and hospitals carrying out genomics research could come up with more answers both to diagnose currently undiagnosed or misdiagnosed people with rare disease and to develop treatments.

With an estimated 15.2 million individuals expected to have clinical genomic testing for a rare condition within the next five years, it is time to evaluate the economic and societal benefits of developing a system that can share this data without compromising privacy.

How big is your dataset?

The answer is a technical solution called a “federated data system”. This is a data superstructure that can aggregate remote data sets for querying while still allowing for localized, data control and security. The groupings are independent, but interoperable. They have their own governance and the information inside them is protected, but they offer evidence – conclusions gathered from the data – that can be used to feed a much larger, global data engine.

The result is a robust and well-annotated dataset that in the case of rare diseases can be added to and then used by different countries to enable global and country-specific solutions to diagnosis, treatment, patient trial recruitment and management of rare diseases. Developing federated data systems is one of the many investments countries are currently considering. Yet since its implementation can be costly (about half a million US dollars) is it the right solution?

There are a number of incentives to establish a federated data system. This report highlights return on investment in four areas:

  • Diagnostic benefit: The identification of pathogenic or likely pathogenic variants in known disease genes.
  • Clinical benefit: Changes in the medical or surgical management of patients as a result of the diagnosis being made, for example: the assignment of therapies (therapeutic benefit) or improvements in the management of patients in the absence of therapy assignment (management benefit).
  • Clinical trial benefit: Changes related to the improvement of clinical trial operations.
  • Personal benefit: The presence of non-clinical outcomes that are important from a personal point of view to a person with a rare disease or who is affected by a rare disease. These outcomes may relate to the intrinsic value of information, the knowledge about the condition and the opportunity to make plans for the family or the future.

Reaping the rewards of unlocking data

Federated data systems can undoubtedly unlock data across country borders to facilitate collective, coordinated efforts. This research also confirms that the development would deliver economic benefits. The diagnostic benefit to the 40% of people with rare diseases experiencing a misdiagnosis or no diagnosis at all is expected to provide savings to healthcare systems and positively affect people’s health, well-being and quality of life.

A diagnosis, however, is most valuable with clinical benefit – meaning that it is possible to influence how a clinical team manages a person with a rare disease to positively influence their lives, whether in symptom mitigation or, in some cases, by providing a cure. Being able to access disparate datasets of health and genomic data via federated data systems can in principle improve the speed, efficiency, scope and cost of performing a range of steps, from target discovery to post-market safety and cost-effectiveness studies.

I accept the pain, discomfort and severe physical limitations of my rare disease. For almost 30 years, I’ve hoped for a treatment option, and it hasn’t arrived.

—Lynsey Chediak, rare-disease patient advocate, San Francisco, California, US

But there is an evidence gap in our understanding of specifically how such global data sharing will deliver new value. To measure the efficacy and cost-effectiveness of federated data systems, discrete trials for repurposed, novel and ultra-novel gene therapies are needed to study development, launch and access to therapy.

Federated data systems could further overcome the limits of collecting and measuring the additional non-health benefits that come from the peace of mind of receiving an accurate diagnosis.

When financial and moral incentives merge

There has never been a better time for international collaboration on solving rare disease. The moral incentive to create a global genomic data consortium for rare disease has always been present, but this research puts the spotlight on the multiple benefits in terms of economic incentives as well.

The World Economic Forum calls on countries to test out this proof of concept of a federated data system model in order to more fully understand the range of benefits.

Having a diagnosis for a rare disease carries a psychological value in and of itself beyond what is currently recorded and tracked by the metrics for standard economic value. And arguably this particular benefit is priceless.

My diagnostic odyssey lasted 32 years. I visited my family doctor more than 180 times in my first 18 years of life. I also saw dozens of specialists, went to walk-in clinics and waited my turn at more hospital emergency rooms than I can remember. I eventually gave up searching for answers when I turned 18. I decided that I would instead try to live my life the best I could despite my many debilitating symptoms. I was 32 when I was finally diagnosed as having Muckle Wells syndrome and given life-changing treatment.

—Ian Stedman, Toronto