Unveiling the Shadows: The Silent Epidemic of Rare Diseases in India

24.05.2024 // Dr. Rahila Sardar

The World Health Organization (WHO) defines rare diseases as those affecting 1 or fewer than 1 in every 1,000 people. However, definitions vary across countries, in India we do not have a standard criteria for categorizing these diseases. The Indian Council of Medical Research (ICMR) defines rare diseases as those affecting fewer than one person in a population of 2,500, while the Organization for Rare Diseases India (ORDI) suggests a ratio of 1 in 5,000. These conditions encompass a wide spectrum, including genetic disorders, infectious tropical diseases, rare cancers, and degenerative conditions.

In this post, we’ll explore the intricate world of rare diseases in India, shedding light on the formidable challenges patients encounter in accessing quality care. Join us as we reveal the stark realities faced by those living with rare diseases in India and advocate for stronger, more supportive systems to enhance their lives..

India, with its vast and diverse population, grapples with the amplified complexities of healthcare due to its growing population and the emergence of new diseases. According to India’s National Policy for Rare Diseases, an estimated 50 to 100 million Indians are affected by rare diseases. This not only imposes a significant financial burden due to high treatment costs but also a substantial emotional toll on affected families.

Present scenario

In the current landscape, most countries define rare diseases primarily based on prevalence thresholds, typically ranging from 1 to 6 cases per 10,000 people. However, the accuracy of defining rare diseases solely based on prevalence has its limitations, as it doesn’t consider factors like disease severity, the potential for being life-threatening, availability of alternative treatments, and heritability.

Richter T. et al., in their study highlighted the disparity in how rare diseases are defined, with some definitions focusing solely on prevalence thresholds while others incorporating factors like: disease severity and treatment availability. The study emphasized the necessity of aligning definitions by standardizing objective criteria such as prevalence thresholds, while avoiding subjective descriptions such as disease severity. Additionally, it suggested considering factors like geographical and comparative rarity, as well as the feasibility of clinical research.

This underscores the urgent need for further research to precisely define rare diseases in the Indian context. The Indian Council of Medical Research (ICMR) has taken a significant step in this direction by initiating data collection through a hospital-based National Registry for rare diseases. This initiative aims to accumulate sufficient data to formulate a comprehensive and suitable definition of rare diseases in India. Such a definition will significantly contribute to the improved diagnosis, treatment, and management of these conditions.

Challenges

The challenges faced by rare disease patients, their families, and caregivers in India are complex and significant. Key issues include:

Lack of awareness among healthcare providers, leading to delayed diagnoses that prolong patient and family suffering.
The high cost of treatments, especially for orphan drugs not covered by health insurance, places a severe financial burden on families, often surpassing their annual income.
Rare diseases often present symptoms similar to common disorders, making diagnosis challenging.These diseases typically require specialized expertise and advanced techniques for accurate diagnosis and management.
Psychologically, patients and families face isolation, uncertainty, and significant mental health strains due to the nature of rare diseases and the challenges in managing them.
Caregivers frequently have to forego work or education, leading to significant lifestyle changes and social isolation.

There is a critical need for more informed medical specialists, better management strategies, and broader awareness to improve the support system for those impacted by rare diseases in India. These challenges highlight the urgent need for policy changes to ensure more accessible, affordable, and comprehensive care for the rare disease community.

Initiatives taken in response to the challenges…

Various organizations, both governmental and non-governmental, have developed programs to address the challenge of rare diseases in India. While many of these efforts focus on specific disease areas or sub-populations, some initiatives cater to a broader spectrum of rare disease patients.

National Policy for Rare Diseases

The Union Health Ministry introduced a National Policy for Rare Diseases in 2017 to help the Indian population comprehensively tackle rare diseases. The most recent update in 2021 offers a one time financial aid of Rs. 50 lakhs for the patients suffering from the rare diseases listed in the policy, regardless of their financial status.

Centres of excellence

The Central Government of India has set up 12 Centres of Excellence (COE) across the country for the treatment of rare disease patients suffering from diseases like Gaucher, inborn Errors of metabolism, etc. and to provide one-time treatment like Bone Marrow and Liver transplantations for amenable rare diseases. Recently, the government of India released 22.2 crore for 134 patients out of 453 listed from different COEs.

Nidan Kendras

Under the Unique Methods of Management and Treatment of Inherited Disorders (UMMID) project, the Department of Biotechnology (DBT) has set up 5 Nidan Kendras for screening, genetic testing and counseling services for rare diseases. These Nidan Kendras work under the guidance and supervision of COEs.

PLI Scheme for Rare Drugs Manufacturing

The Production Linked Incentive (PLI) scheme aims to boost drug production, including those for rare diseases. With a total budget of Rs 15,000 crore, the scheme aims to incentivize manufacturers to increase production, particularly focusing on rare diseases. By fostering innovation and research, the PLI Scheme for Rare Drugs Manufacturing aims to benefit patients with rare diseases in India.

Tax exemption for Rare Disease Drugs & Food:

The GST Council, in its 50th meeting, exempted the Integrated Goods and Services Tax (IGST) on medicines and Food for Special Medical Purposes (FSMP) used for personal use and treatment of rare diseases mentioned in the National Policy for Rare Diseases, 2021. While this exemption significantly reduces treatment costs for patients, challenges remain for imported drugs with high GST charges and cumbersome customs clearance processes. Therefore, there is an urgent need for further governmental action to simplify the import procedures and reduce expenses for rare disease patients.

Other notable examples include….

The Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), anNGO that manages Duchenne Muscular Dystrophy (DMD) patients in southern India and provides genetic counseling and screening for DMD and Spinal Muscular Atrophy (SMA).
The Institute of Medical Genetics and Genomics at Sri Ganga Ram Hospital, Delhi offers tests for various rare diseases including blood disorders and muscular dystrophies. Commercial companies in India also offer genetic testing for rare diseases.
Non-profit organizations like ORDI support individual rare disease groups, establish patient registries, and advocate for orphan disease-centered policies.
The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) at CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, utilizes genomics to understand rare diseases.

Additionally, government research laboratories, hospitals, and non-profit organizations provide specialized tests for specific patient groups or communities. Furthermore, publicly accessible resources like SAGE, IGVdb, MtBrowse, mit-o-matic, INDEX-db, TMC SNPdb and IGDD support research on rare genetic diseases in India. Recent collaborative efforts, such as the IGV consortium, have generated extensive genome-scale datasets, enriching the understanding of genetic diversity and the prevalence of genetic diseases in India.

Projects focusing on healthy individuals from diverse Indian sub-populations and regions have further enriched these datasets. All these, ultimately have led to the establishment of resources like the South Asian Genomes and Exomes (SAGE) and the INDian EXome database (INDEX-db). Disease-specific databases have also provided valuable insights into genetic diversity and the prevalence of genetic diseases in India.

Persisting problems

Prasanna Shirol, Co-founder & Executive Director of the Organization for Rare Diseases India (ORDI), highlighted in an article in Times of India that despite the establishment of the National Rare Disease Policy, there have been significant delays in releasing funds due to several changes. These challenges include assessing the cost-effectiveness of interventions for rare diseases compared to other health priorities, determining the sharing of expenses between central and state governments, and accommodating the flexibility of states in adopting or modifying the policy to suit their needs. Additionally, some Centers of Excellence (CoEs) are hesitant to commit to lifelong treatment due to fear of potential interruptions and legal complications for patients. The delays in implementation of this policy can be devastating for families in urgent need of medical aid. Many of the families have already lost their loved ones while waiting for treatments.

What can be done?

The government’s vital role in empowering patients and caregivers affected by rare diseases involves raising awareness, advocating for policies, driving research, and facilitating data collection. It is crucial for the government to fulfill financial aid promises and ensure efficient implementation of the National Policy for Rare Diseases to save lives. The policy’s implementation could incentivize the pharmaceutical industry to manufacture Orphan drugs domestically, addressing the country’s need for such drugs and alleviating global cost issues.
There is a critical shortage of infrastructure and trained personnel for genetic diagnostics, counseling, and advanced therapies in many Centers of Excellence (CoEs). Establishment a robust care provider and referral network, through collaboration between CoEs, public-private partnerships (PPP), and other nationally significant regional institutes.
Establishing a digital healthcare infrastructure to record patient diagnostic and treatment journeys is imperative. Together, they can Develop a comprehensive national registry to collect crucial epidemiological data on rare diseases.
Both industry and government must urgently invest in infrastructure development and skilled manpower for indigenous research and manufacturing of cell and gene therapy products. Strategic partnerships with institutions in the UK, USA, and Europe could expedite this process. Additionally, establish next-generation Good Manufacturing Practice (GMP) and Good Laboratory Practice (GLP) infrastructure at the startup level to drive innovation and enhance India’s pharmaceutical sector.
Health, being a state matter, requires cohesive collaboration between state and central governments, with a focus on patient welfare.
Non-governmental organizations depend on government support to ensure access to care and treatment for affected individuals. Collaboration between government bodies and patient associations can expedite treatment processes and save lives.

While significant strides have been made in raising awareness and initiating programs for rare diseases in India,substantial challenges remain, including insufficient infrastructure and limited access to treatments. To effectively address these issues, concerted efforts from the government, healthcare providers, and other stakeholders are needed. Implementing targeted policies, increasing financial aid, and fostering collaboration with international partners can significantly improve the situation for rare disease patients in India.

Vgenomics is a biotech company with a social mission to alleviate the suffering of more than 175 million children affected by rare diseases. With a team of scientists based in the US and India, it develops novel diagnostics and therapeutics for rare diseases. Through its products and collaborations with healthcare professionals and researchers, Vgenomics is pushing the boundaries of medical science, striving to improve outcomes and elevate the quality of life for those affected by rare diseases.

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