In India, the prevalence of rare diseases is between 72 and 90 million with about 450 identified diseases.

Approximately 80 per cent of these diseases stem from genetic origins, thereby disproportionately affecting children. Diagnosis usually takes several years.

Moreover, less than 10 per cent of rare diseases are treatable and present as serious, chronic, and debilitating conditions. Even when treatments are available, patients may face challenges accessing them due to high costs, limited availability, or insurance coverage restrictions. These issues are more prominent in the case of orphan drugs. Therefore, addressing these challenges requires collaborative efforts among researchers, healthcare providers, policymakers, and advocacy groups.

Govt moves

To facilitate research, the government launched the National Policy for Rare Diseases (NPRD), 2021. There is a provision for financial support of up to ₹50 lakh ($60,000) in any Centre of Excellence (CoE) mentioned in NPRD. It also plans to improve tertiary healthcare services by designating 12 healthcare facilities as CoEs with each receiving up to ₹5 crore to enhance capabilities. This financial assistance is separate from aid provided by Rashtriya Arogya Nidhi’s umbrella scheme.

Moreover, comprehensive policies signify a commitment to keeping pace with medical progress, enabling timely and precise interventions, and upholding the principle of equitable access. Some key recommendations are:

Expanding the NPRD: The landscape of rare diseases is ever-evolving, with ongoing identification of emerging conditions. Hence, incorporating new diseases into the NPRD is vital.

Awareness: It empowers healthcare professionals, policymakers, and the general public to advocate for improved services and policies. Through training programmes, stakeholders can gain an understanding of the policies and support systems.

Increased funding support: Increased funding support is essential to alleviate the financial burden on patients.

More CoEs: By increasing the number of COEs, more patients can access comprehensive diagnosis, treatment, and support services closer to their homes.

Structured referral mechanism: It is essential for streamlining the process of connecting patients with appropriate healthcare providers for receiving timely and accurate diagnoses, access to specialized care, and coordination of multidisciplinary support.

The future of rare disease care in India offers optimism, thanks to collaborative efforts and a commitment to innovation.

The writer is Country President and Managing Director, AstraZeneca Pharma India Ltd.