Rare diseases policy outlines challenges sans solutions

There is no substantial data on the number of people suffering from rare diseases in India and the data that is available is from tertiary care hospitals. The lack of epidemiological data on rare diseases makes it a herculean task to determine the prevalence and burden of rare diseases, hence hampering the definition of rare diseases in the Indian context.

- Prabhat Prakash

The National Policy for Treatment of Rare Diseases (NPTRD) was formulated by the Ministry of Health and Family Welfare (MoH&FW), Government of India in July, 2017. The policy, however, has faced challenges with implementation. One of them was bringing the states on board and the lack of clarity on the quantum of support for the states from the Centre in terms of tertiary care.

Due to these challenges, an Expert Committee was constituted by MoH&FW in November, 2018 to review the NPTRD, 2017. The Expert Committee, along with the approval of the competent authority, finalised a draft of the National Policy for Rare Diseases and placed it in the public domain on January 13, 2020 for all stakeholders to review and recommend. Reviews and recommendations were examined by an Expert Committee set up by the Directorate General of Health Services (DGHS). It has finalised the policy after further deliberations, examination of recommendations. There are between 7000 and 8000 rare diseases, but less than 5 per cent have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on the resources.

Rampant delayed diagnosis