India’s Untapped Potential in Rare Disease Genomics: What’s Missing?

A Silent Crisis in India’s Genetic Landscape

Imagine a child born with an undiagnosed genetic disorder, waiting years for an answer—only to be met with misdiagnoses, outdated treatments, or worse, no treatment at all. This is not just an exception; it is the reality for an estimated 70 million Indians affected by rare diseases. The lack of genomic research, affordable genetic testing, and treatment innovation keeps these patients in a cycle of uncertainty.

India has some of the brightest minds in medicine and biotechnology, but why is it still lagging in genetic research and rare disease solutions? What structural, financial, and policy gaps prevent the country from unlocking its full potential in genomics? More importantly, how can India rise to meet this challenge and take its place as a leader in rare disease research?

1. Limited National Genome Sequencing Initiatives

India has yet to launch a large-scale population-wide genome sequencing project akin to the UK’s 100,000 Genomes Project or China’s precision medicine initiatives. While institutions like CSIR, ICMR, and IGIB have initiated research in this area, a comprehensive national effort remains elusive. Without large-scale sequencing programs, genetic insights remain limited, hampering early diagnosis and targeted therapies.

Solution:

• Government-backed genome sequencing programs with a focus on rare diseases.
• Integration of genetic databases with electronic health records for real-world insights.

2. Lack of Rare Disease Registries and Data Infrastructure

India lacks a centralized rare disease registry, making it difficult to track prevalence, genotype-phenotype correlations, and treatment outcomes. Without structured patient data, pharmaceutical companies and researchers struggle to design clinical trials and gene therapy studies.

Solution:

• Establish a national rare disease registry for better epidemiological insights.
• Develop secure, interoperable data-sharing platforms to facilitate genetic research.

3. Inadequate Funding and Investment in Genetic Research

While developed nations allocate billions to genomic medicine, India’s investment remains disproportionately low. The National Policy for Rare Diseases (2021) earmarked ?50 crore ($6 million) for rare disease treatment—a fraction of what is needed to drive meaningful research.

Solution:

• Public-private partnerships to fund genetic research and drug discovery.
• Encouraging venture capital and biotech startups to focus on rare disease solutions.

4. Limited Accessibility to Genetic Testing & Diagnosis

Genetic testing remains a luxury rather than a standard diagnostic tool in India. The high cost of whole genome sequencing (?25,000 - ?50,000 per test) and limited insurance coverage make genetic diagnosis inaccessible to most patients.

Solution:

• Subsidized genetic testing for rare disease patients under government healthcare schemes.
• Expansion of genomic testing centers beyond metro cities to rural areas.

5. Lack of Skilled Geneticists and Genomic Workforce

India has fewer than 500 trained geneticists for a population of 1.4 billion, creating a critical talent gap in rare disease research and treatment. Without a strong clinical genetics workforce, genetic counseling and precision medicine remain underdeveloped.

Solution:

• Expansion of medical genetics programs in universities.
• Scholarships and fellowships to train more clinical geneticists and bioinformaticians.

6. Minimal Industry-Academia Collaboration

Unlike in the US and Europe, where biotech companies, research institutions, and hospitals collaborate to develop rare disease treatments, India’s research remains largely academic with limited commercialization pathways.

Solution:

• Incentivize biotech startups through tax benefits and grants for rare disease research.
• Create innovation hubs that facilitate collaboration between scientists and industry leaders.

7. Regulatory Challenges for Gene Therapy and Clinical Trials

India’s clinical trial approval process remains lengthy and bureaucratic, delaying research in gene therapy and precision medicine. Additionally, there is no clear regulatory framework for emerging therapies like CRISPR-based gene editing.

Solution:

• Fast-track regulatory pathways for rare disease drug development.
• Establish gene therapy guidelines to encourage investment in advanced treatments.

8. The Need for Policy Reform and Advocacy

The National Policy for Rare Diseases (2021) made strides in recognizing rare diseases, but implementation gaps remain. There is a need for stronger advocacy and patient representation to push for better policies, funding, and inclusion in healthcare planning.

Solution:

• Strengthening patient advocacy groups to influence policy.
• Expanding insurance coverage to include genetic testing and gene therapy.

Conclusion: The Road Ahead for India’s Rare Disease Genomics

India stands at a defining moment in its healthcare evolution. With its vast genetic diversity and scientific talent, it has the potential to be a global leader in rare disease genomics. However, policy inertia, lack of funding, and gaps in infrastructure continue to hold back progress.

By implementing large-scale genomic initiatives, investing in rare disease research, and fostering public-private partnerships, India can accelerate breakthroughs in genetic diagnostics, precision medicine, and targeted therapies. The future of rare disease care in India depends on action today—a commitment to unlocking the full potential of genomics for millions of patients waiting for answers.