by Dr Manish Aggarwal
Health authorities have yet to agree on a universal meaning of what is considered to be a “rare disease”. WHO defines a rare disease as one with a frequency of less than 6.6 to 10 per 1000 population. There are around 7000 conditions included in the rare diseases category. Approximately 80% of rare diseases have genetic origins and thus affect children to a greater extent.
While tremendous progress has been made in clinical trials for rare diseases, early screening and diagnosis of rare diseases continue to be a matter of concern. Added to this, the process of developing drugs is still too costly, slow, and inaccessible for the majority of patients, especially in the lower and middle-income groups. India is still lagging behind in awareness, diagnosis, and drug development for such diseases and there is a lack of medical and scientific research as well.
Many experts opine that the use of patient data in the right way can be a game-changer in early diagnosis and advanced research of rare diseases. Electronic Health Records (EHRs) can be a powerful tool for bridging the knowledge gap in rare diseases, as these provide a more comprehensive record of a patient’s medical history than what may be available in some of the traditional patient data sets. The use of a variety of data sets, in combination, with technology and AI/ ML models, is the key to helping accelerate the diagnostic journey in rare diseases. The longitudinal data sets provide much fuller coverage of the patient population, while the data from EHR systems can enhance the understanding of treatment and patient dynamics.
“Data analysis and technology are enabling investigative analytics that was unimaginable a few years ago. With AI/ML, from Random Forests to Neural Networks, to Ensemble models, it has become possible to detect patterns and trends in the data that the human eye cannot observe, and it is helping us solve the most complex problems in healthcare today,” says Vikram Batra, Principal, Decision Science team of Axtria Inc. The accuracy of the AI/ ML models is enhanced by continuously feeding data from various sources, multiple times. These solutions self-learn and improve over time to become faster and more accurate in disease identification and prediction. He also added, “The Government can also help the pharmaceutical industry hasten the diagnostic journey by making necessary data available for them as well as by funding investments that will help them bring lifesaving medications to the market. This joint effort between the government and the industry will enable the right treatment to reach the right patient at the right time and deliver improved patient outcomes.”
Recognising those early diagnostics can play a pivotal role in giving direction towards correct, evidence-based, meaningful patient management, Dr Reena Nakra, Principal Director, Lab Management and Technical Excellence, Dr Lal PathLabs, said, “Early diagnosis leads to early access to therapy and compliments efficient management of the patient’s condition. More than 80% of rare diseases have a genetic origin. Here, genome sequencing, transcriptome analysis, methylation profiling, proteomics, functional studies, long-read sequencing and single-cell transcriptomic are the latest technologies showing promise in the accurate and timely detection of rare diseases. We use various technologies like Sanger sequencing, Multiplex Ligation Dependent Probe Amplification, Fragment analysis, Triplet-primed Polymerase chain reaction, next-generation sequencing and chromosomal microarray to detect rare diseases.”
Deliberating on how technology has been revolutionising healthcare, Dr Swadeep Srivastava, Founder of HEAL Foundation says, “Technology plays an important role in the digitisation of healthcare. What would earlier cost thousands of rupees, is now available for a few hundred. This is encouraging people to conduct regular check-ups, monitor their health, take timely corrective measures, better manage chronic ailments and lead healthier lives.”
Another important roadblock in the management of rare diseases is the high-cost factor associated with it. While India formulated the National Policy on Rare Diseases (NPRD) in 2017, it was not clear which diseases were to be covered, what patient eligibility was, and the cost-sharing of the treatments. “In March 2021, the National Policy for Rare Diseases offered monetary aid of INR 20 lakh under RAN to only Group 1 patients and the funding of the other groups was left to the non-state actors. This was modified in May 2022, with an amendment in the policy, announcing INR 50 lakh monetary aid to all groups of Rare Diseases. In August 2022, the operational directives were shared with the Centres of Excellence with details on the utilisation of the money. Now, after almost 2 years since the formulation of the policy, a few patients have started getting on-boarded for treatment at the Centres of Excellence. There has been growing realisation and efforts from the Ministry of Health & Family Welfare (MoHFW) to support these patients. From a situation where rare diseases were not a priority agenda, patients today have a distinct ray of hope and survival but also leading a near-normal life with therapy”, says Saurabh Singh, the father of Shaurya, an MPS II (Hunter Syndrome) patient. MPS II is a rare disease and falls under Group 3(a) in the National Policy for Rare Diseases. He is also the Co-Founder and Director of the Rare Diseases India Foundation (RDIF), a Patient Advocacy Group.
There is an urgency to mitigate the challenges and India needs to have a decentralised approach to rare diseases. Policies should be drawn up that leverage health tech in a way that expedites scientific innovation and advanced clinical research in the rare diseases space.
Dr Manish Aggarwal, Dept of Paediatrics, LYF Hospital, Indirapuram
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