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Game Changer for Rare Diseases: A Patient Registry on Blockchain

November 1, 2019
October 17, 2019
Eberhard Scheuer, PhD

How decentralized patient registries can facilitate access to patients and their families by giving them access to research, treatment options, and peer-to-peer community connections.  

In many ways, modern healthcare today is driven by data and profit. Over the years, the race for data to develop new drugs, new algorithms, and more cost-effectiveness in the world of outcome-based reimbursement, has only intensified. For decades, however, rare diseases were not part of this development, until recent regulations such as the extension of market exclusivity began making it more attractive for the life science industry to be active in this field. Despite this progress, not much has changed for most patients. and their families who are still struggling to get access to the right treatment. At first sight, blockchain technology does not seem remotely related to this issue. However, it enables the functioning of decentralized systems. And such a system can connect those who strive for better and cost-effective treatment with those who need them - in a fully GDRP compliant way.

What are the challenges for patients and their families?

The challenges for patients with rare diseases are manifold. First and foremost getting the right diagnosis (1) can take considerable time. This is because many doctors often have not seen a patient with a specific rare disease before and as symptoms can vary a great deal among patients suffering from the same disease,  diagnosis can be complex.

Secondly, patients and their families desperate for critical information on the disease (e.g. what is the cause, how can it be treated, and what are its effects on one’s life), and searching for the best treatment options often find it an uphill battle. In case there is no cure, one hope is getting involved in research projects. But these research projects are unfortunately as rare as the diseases which they are investigating. ClinicalTrials.gov (2) is an option but patients need to get in touch with the researchers at a much earlier stage to be considered. Thirdly, apart from medical support, patients and their families also need a network that supports them in a social and less formal way, answering the many questions that have no room in the traditional healthcare system. Patient organizations offline and online fulfill this need and additionally play a vital role in pushing the development of new treatments and working with regulators to make treatments more accessible, i.e. that their costs are covered by the payers. Treatment of a rare disease can also be expensive, with the burden of disease coming with a never-ending stream of bills that patients and their families often have to pay themselves (3).

What are the challenges for research groups and therapy providers?

On the other end, there are those who are interested in rare diseases on a professional level. For one, those who treat patients and those who strive for new knowledge by conducting research. Their problem is, however, that rare diseases are infrequent by definition, and the quality of research results depend on numbers, which translates into sample size. In the end, patients and healthcare providers have the same problem, i.e., finding and connecting.

Regulatory and pricing incentives have made it more attractive for pharmaceutical companies to enter the market for rare disease therapies and Orphan Drug development, but economic risks remain, e.g. relatively small patient populations, unclear reimbursement mechanisms, and high treatment prices generate negative publicity.

What are the challenges for payers?

Rare diseases are not uncommon! If you combine all 8’000 different ones, it adds up to 350 million people worldwide with an unknown number of patients not being diagnosed correctly. No matter if diagnosed or undiagnosed, caring for those patients requires a lot of resources. Even if new therapies are developed, it is difficult to predict the total cost of lifetime treatment. However, if the cost-effectiveness and safety of treatments are not shown, the treatment costs might not get covered by the payer.

How can blockchain solve these challenges?

Apart from artificial intelligence to diagnose rare diseases, blockchain technology is probably the other major technology trend that can benefit patients suffering from rare diseases. There are two aspects to be highlighted:

  • Decentralized patient registries. Bringing patients together with the best information, researchers, and treatment centers is reflected in the increased efforts to build up patient registries as we can see by the recent call under the Third Programme for the Union's action in the field of health "Rare disease registries for the European Reference Networks" (PJ-01-2019). But so far, almost all attempts focus on centralized registries, i.e., patient profiles are stored in one place to make them available to third parties for research or treatment purposes at a later stage. But centralizing data is all about trust! Giving data to an organization means giving up control over data. We have learned from Facebook's handling of user data and from PatientsLikeMe bringing in investors (4) that serving shareholder value can conflict with user privacy. Distrust can even expand to academic researchers and governments when they centralize health data with them not being able to ask patients for consent every single time their data is being used. On the other hand, decentralized patient registries function without a central database that could be a single point of failure. A blockchain can be used as a message board where new clinical trials or news about new treatments can be broadcasted. An app that is monitoring the blockchain can do the filtering on the patient's device according to filters like age, gender, country, and disease. This allows patients to access relevant information and opportunities without the need to expose personal data to a centralized entity.
  • Patient Incentives. Although there are some protagonists who frown upon rewarding research participants for contributing their data, it should be perfectly clear that it is legitimate to compensate them for their effort. With blockchain technology, this becomes very easy and transparent. Once data has been delivered, the transfer of a digital asset can take place instantaneously based on a digital contract. Recently digital assets have received negative press when discussed in the context of crypto-currencies, but that makes the need for a healthcare dedicated digital currency more obvious.


Decentralized patient registries give patients control with whom they share data and for which purpose. Researchers can reach people living with rare diseases globally and more effectively. Patient organizations can play a vital role in decentralized registries and can be freed from the obligation of storing patient data in a safe and GDPR compliant way. Moreover, they can connect with patients to increase their membership base.

On a technical level, blockchain-based platforms are autonomous and use globally accessible infrastructure that is already up and running. Patients have a unique address on a blockchain. With a message to that blockchain address, patients can always be accessed instantaneously without being identifiable.

Last but not least, on a decentralized platform, additional features such as access to AI services, e.g., for diagnostic purposes and peer-to-peer information or asset exchange can be made available.

If you are interested in using decentralized patient registries, give us your feedback through the comment section or send an email to the author: es@centiva.health

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1) Shire (2013). Rare Disease Impact Report: Insights from patients and the medical community. [online] Shire. Available at: https://globalgenes.org/wp-content/ uploads/2013/04/ShireReport-1.pdf [Accessed 13 October 2019].

2) ClinicalTrials.gov. https://clinicaltrials.gov/ [Accessed 13 October 2019].

3)  Anderson, M., Elliott, E. and Zurynski, Y. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, [online] 8(1), p.22. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599672/ [Accessed 13 October 2019].

4) UnitedHealth Buys PatientsLikeMe After Startup Was Forced to Divest Chinese Investment https://www.wsj.com/articles/unitedhealth-buys-patientslikeme-after-startup-was-forced-to-divest-chinese-investment-11561477214

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