Unwinding the open data debate for rare diseases

Data is the new oil. The advancements in AI, data mining, big-data present enormous opportunities to build an open data ecosystem in healthcare to accelerate innovation in every spectrum of the system. Open data is one that can be freely used, reused, shared, and distributed without copyright, patent, or other methods of restriction. However, healthcare data falls within the category of ‘personal sensitive data’ and needs a framework to ensure data privacy and data custodianship. This poses the dilemma of how healthcare data needs to be shared and how much of it needs to be shared, specifically in the context of rare diseases.

Let’s start with the basic question, why are we discussing rare diseases and open data in the same bracket? Rare diseases are life debilitating conditions that affect a very small fraction of the population. Due to low occurrence, these diseases do not get necessary attention by the governments and pharmaceutical companies, which significantly impede the clinical research and therapy development processes. As data suggests, the diagnostic odyssey of rare disease ranges from 5 – 7 years. In India, this duration may be even longer and many cases remain undiagnosed. Furthermore, conducting clinical trials on these diseases is extremely difficult owing to the small number of patients who are often geographically dispersed. As a result, 90-95 % of diseases do not have a treatment. Some of these challenges could be addressed if data sharing is facilitated through proper frameworks and data is archived in registries, which are openly accessible and legally compliant. In this context, open data is furthermore important as resources to develop personalised medicine are key to strengthening the rare disease care system.

The present global crisis of COVID-19 presented a unique opportunity to appreciate the power of resource and knowledge sharing. The COVID-19 Open Research Dataset (CORD-19) is one such initiative, that serves as a repository of information on SAR-COV2 and facilitates scientific research on COVID-19 disease management and accelerated vaccine development. In a similar manner, sharing and providing access to healthcare and research data on rare diseases would promise tremendous scientific and clinical advancements. However, despite the willingness of the rare disease community to share their health data, relevant data, either from research, clinical studies or patients, is scarce and access is limited. Furthermore, the benefits of data sharing may not be always tangible in the short-term, as clinical outcomes are slow to translate into real-world practises. In addition, there could be risk of exploitation of such patients, if informed consent process, data protection framework and legal protection is not properly enacted. It is thus imperative to understand whether the healthcare data sharing and management policies and programs recently launched by the Government of India, such as National digital health mission, Healthcare data management policies etc., are inclusive of the needs of marginalised disease groups such as rare diseases. Taking this forward, on the occasion of Rare disease week 2021, the DST Centre for Policy research had organised a panel discussion to initiate a discourse on “Open data for Rare diseases – An Indian perspective”. The objective of the panel was to understand the implication of data sharing and influence of various relevant policies on rare diseases. A panel of eminent scientists and academics: Prof. Vijay Chandru, Prof. Ramaprasad, Dr. Harsha Rajasimha, and Dr. Shilpi Bhattacharya stirred a very thoughtful discussion on the topic informed by their years of rich experience in relevant fields of open data and rare diseases.

Prof. Vijay Chandru, Professor at IISc Bangalore, and commissioner on the Lancet Citizens Commission for Reimagining India’s Health System, stressed on inclusivity and equity in public health. Also, co-founder of Strands Life Sciences (an integrated specialized diagnostic company), he pointed out how innovative gene technology based therapeutic approaches, such as mRNA technology (used for developing vaccines for COVID-19) present unique opportunities. Citing the example of COVID-19, he said that rapid developments were possible due to sharing of data. However, ensuring privacy and security issues related to health data is extremely important and a non-discrimination policy for information, along the lines of Genetic Information Nondiscrimination Act of USA, 2009 can be thought of in India as well.

Dr. Ramapasad, Director of the Ramaiah Public Policy Center, Bengaluru and Professor Emeritus of Information and Decision Sciences at the University of Illinois at Chicago, USA projected the concept of Learning Surveillance system for rare diseases, in the lines of Vision 2035 Public Health Surveillance in India’ initiated by Niti Aayog. Such a system is expected to systematically differentiate/integrate rare and neglected disease data from/with common diseases data and will make the data available to the stakeholders for services like research, education, care systems etc. He also indicated that the challenges of privacy, confidentiality, and integrity of Open Data for rare diseases will be different for common diseases, and so the policy choices as well.

Dr. Harsha Rajasimha, Founder and CEO of Jeeva Informatics Solutions, USA, and the cofounder of a nonprofit organization, IndoUSRARE highlighted that there is a need to innovate new pathways for drug developments in rare diseases. He emphasized that conventional methods might take upto 2000 years before every rare disease has at least one FDA approval. He further stressed that data sharing can help accelerate the process and mentioned about various global rare disease patient driven initiatives of sharing data. He also spoke about the initiatives undertaken by IndoUSRARE, which works towards accelerating the process of therapy development through building collaborations between the US and India.

Dr. Shilpi Bhattacharya, Professor of Law at O.P. Jindal Global University, spoke about the legal aspects of data collection and data sharing. As a rare disease patient and trustee of World Without GNE Myopathy, a rare disease patient advocacy group she also gave a humanitarian perspective on this issue. She discussed data privacy and called attention to the issues with data collection and the risks in collecting and sharing data without comprehensive legal support. She emphasized on protecting the rights of people. She emphasized on the various challenges that rare disease patients face and how the challenges vary with different economic and social strata of the society.

For example, many such patients do not have access to education or a job.

Overall, the meeting was successful in bringing insights on dynamic and multifaceted issues concerning data sharing including data security, privacy concerns, informed consent process, accuracy of shared information, federal data, and profiteering from open data by pharmaceuticals etc. Data availability is a necessity to make progress in healthcare delivery and research, more so in the rare diseases domain. However, collection and sharing of such data must be done with a humanitarian purview and should be bound by adequate ethical, moral, and legal frameworks that support the already vulnerable rare disease patient community. We look forward to taking this discussion further and bringing up important recommendations for healthcare policies related to data sharing and governance.

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