Rare Disease Day: From Awareness to Action in India

Rare Disease Day: Globally, an estimated 300 million people live with one of over 7,000 known rare diseases. In India alone, various estimates suggest that up to 70 million individuals may be affected—roughly one in 20 Indians. Most rare diseases are genetic, many manifest in childhood, and far too many patients still navigate a long and costly “diagnostic odyssey” before receiving a name for their condition, let alone care that helps.

Beyond the statistics are everyday realities: parents travelling across states for a specialist appointment; young adults juggling education or jobs with complex treatment regimens; and clinicians trying to tailor care with limited data and constrained resources. Rare Disease Day is not only about visibility—it is about momentum. India has recently taken important policy steps. The imperative now is to translate frameworks into predictable, equitable, and patient-centric care at scale.

Why rare is not rare

* The paradox: Rare diseases are individually rare, but collectively they affect a significant share of the population. The cumulative impact strains families, healthcare systems, and the economy.
* Many rare diseases are genetic and show up early in life. They can affect development, mobility, cognition, and organ function throughout a person's life. Delayed diagnosis can worsen outcomes and costs.
* Data deserts: Because each condition is rare, evidence on natural history, treatment effectiveness, and long-term outcomes in Indian populations is thin. That hampers clinical decision-making and policy design.

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India’s evolving policy landscape

A pivotal development was the National Policy for Rare Diseases (NPRD), notified in 2021. It created a structure for classifying conditions and channeling support:

* Group 1: Diseases for which one-time curative treatments (such as specific surgeries or transplants) are available.
* Group 2: Conditions requiring long-term or lifelong treatment where the cost per year may be relatively moderate.
* Group 3: Conditions requiring lifelong, often extremely high-cost therapies, including enzyme replacement or advanced biologics.
The policy envisions designated Centers of Excellence (CoEs) across premier institutes serving as hubs for diagnosis, management, research, and counselling; financial support pathways for certain therapies; and enabling measures such as strengthened diagnostics and registries. There has also been regulatory recognition of “orphan drugs” under India’s New Drugs and Clinical Trials Rules, 2019—an important step to facilitate the development and approval of therapies for small patient populations.

Progress is real but uneven. Families report that funding windows are limited, coverage varies across states, and out-of-pocket costs remain steep—especially for Group 3 diseases with recurring high-cost treatments. Crowdfunding has played a role for a handful of patients, but it is not a sustainable health financing model. Meanwhile, clinicians point to shortages of trained genetic counselors, fragmented referral networks, and patchy access to next-generation diagnostics.

Diagnosing faster, treating smarter

Reducing the diagnostic odyssey is one of the most impactful interventions. Many families experience years of uncertainty between the onset of symptoms and the time of obtaining a definitive diagnosis. What strategies can accelerate this process?

Strategic newborn screening: India has already initiated pilot programs and state-level efforts. However, implementing national-scale screening for a core panel of conditions could prevent irreversible damage. A phased approach—beginning with high-prevalence, high-impact disorders—would save lives and reduce disability.

Genomic diagnostics with equity: Making exome and genome sequencing available at subsidised rates through Centres of Excellence (CoE) can eliminate years of uncertainty for complex cases. Collaborations with public laboratories and negotiated pricing can significantly lower costs.

NIDAN Kendras and genetic counselling: Expanding access to genetic counselling alongside testing is crucial for helping families interpret results, plan care, and make informed reproductive decisions. Counselling is not optional; it is essential.

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Building effective care pathways in India

Even after establishing a diagnosis, treatment pathways frequently lack coherence. Several practical measures can address these challenges:

National rare disease registry and longitudinal cohorts: Strengthening disease registries—ensuring they are standardised across centres and compatible with the Ayushman Bharat Digital Mission—can enhance care coordination, support research, and inform policy. Longitudinal data from Indian populations are vital for customising treatment protocols.

Standardised care protocols: For priority rare conditions, clinical societies should publish context-specific guidelines for diagnosis, acute management, rehabilitation, and follow-up. This would minimise variations across states and healthcare facilities.

Tele-expertise networks: Implementing ECHO-style hub-and-spoke models that connect CoEs to district hospitals can provide specialist input closer to patients, thereby reducing travel costs and enhancing local clinicians' capacity.

Rehabilitation and assistive technologies: For many rare conditions, access to rehabilitation services, nutritional support, mental health care, and assistive devices is as crucial as medication. Making these resources available through public programs addresses a significant gap.

Financing what matters

Health financing remains a challenging issue. High-cost therapies strain both household budgets and state resources. However, there are practical solutions:

Aligning benefits: Consider including specific treatments for rare diseases within the Ayushman Bharat packages if they demonstrate cost-effectiveness and social benefits—especially for one-time cures and reasonably priced ongoing therapies.

Buying in large quantities and paying based on results: For costly biologics and enzyme replacement therapies, buying in bulk and tying payments to how well the treatment works can make them more affordable and hold providers responsible

Local manufacturing and technology transfer: Promoting domestic production of orphan drugs and biosimilars through targeted incentives can reduce costs, stabilize supply chains, and foster research capabilities.

Inclusive insurance: Encouraging private insurers to cover evidence-based treatments for rare diseases—potentially supported by reinsurance—can protect middle-income families who do not qualify for public schemes.

Sparking research and innovation

India’s scientific ecosystem can and should play a bigger role:

* Priority for rare disease research: Special funding for studies on the history of diseases, finding biomarkers, and flexible clinical trials can speed up solutions that fit India's unique genetic makeup and healthcare needs.
* Platform trials and registries: Multi-disease adaptive platforms allow more efficient testing of therapies across small populations. Linking to registries reduces recruitment challenges and increases statistical power.
* Open science and data sharing: Secure, privacy-preserving data collaboratives across CoEs, start-ups, and global consortia can speed up discoveries while respecting patient rights.
* Ethical, equitable access to advanced therapies: As gene and cell therapies enter clinical practice, India must define pathways for evaluation, pricing, and equitable access, alongside robust pharmacovigilance.

Human stories, humane systems

While policies are essential, the importance of culture and community should not be overlooked.

School and Workplace Inclusion: Clear accommodations—such as flexible schedules, accessible infrastructure, and remote options—help children learn and allow adults to work with dignity.

Caregiver Support: Services such as respite care, peer groups, and mental health resources can alleviate burnout and improve outcomes for families.

Public Awareness Without Sensationalism: Media, schools, and community platforms can help normalize discussions about rare conditions, combat stigma, and provide practical resources.

What Can You Do Today?

* If You Are a Policymaker: Prioritize a phased national newborn screening program, allocate funding for Centers of Excellence (CoEs) to expand genomic diagnostics, and establish a pooled procurement mechanism for priority therapies.
* If You Lead a Hospital: Set up a multidisciplinary rare disease board, implement standardized protocols, and participate in national registries and tele-expertise networks.
* If You Are in the Industry: Invest in local manufacturing of orphan therapies, collaborate on outcomes-based contracts, and support compassionate access programs.
* If You Are a Researcher: Concentrate on natural history cohorts, registries, and pragmatic trials; ensure data is FAIR—findable, accessible, interoperable, and reusable.
* If You Are a Citizen: Educate yourself, share verified resources, and support advocacy groups that assist families through navigation, counselling, and community building.

A Chance to Lead

India possesses unique advantages: a large and diverse patient population for research, a robust network of leading medical institutes, a rapidly developing digital health infrastructure, and a thriving biotech start-up ecosystem. With ongoing investment and coordination, the country can create a rare disease ecosystem that benefits its citizens and influences global practices.

While Rare Disease Day raises awareness, the true impact comes from the actions taken on the remaining 364 days. Each month without newborn screening results in more children missing critical opportunities for early detection. Each year without pooled procurement keeps transformative therapies beyond reach for families in urgent need.

The path forward is clear: diagnose earlier, organize care around patients, finance wisely, and innovate responsibly. By embracing these principles, “rare” will no longer signify invisibility or neglect. It will simply indicate a different condition—one that equally deserves timely, compassionate, and effective care.

Note: Dr (Prof) Sadhana Kala is a USA-trained robotic & laparoscopic surgeon, Uppsala University, Sweden, trained fertility specialist, Icon Endoscopic Surgeon of North India, and National Icon Endoscopic Surgeon of India. She is rated as India's Best Gynaecologist by Google.

Disclaimer: The views expressed in this article are the personal opinions of the author.