Rare diseases policy outlines challenges sans solutions
Bio Spectrum|June 2021
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

There are also varying definitions of rare diseases. The World Health Organisation (WHO) defines rare disease as a debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. The US defines rare diseases as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The European Union (EU) defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04 per cent) in the country.

According to the ‘Rare Disease Impact Report: Insights from patients and the medical community’ (a report commissioned by Shire and developed in collaboration with an external advisory board), it takes patients in the US an average of 7.6 years and patients in the UK an average of 5.6 years to receive an accurate diagnosis, typically involving as many as eight physicians, four primary care and four specialists. In addition, two to three misdiagnoses are typical before arriving at a final diagnosis. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially. There is an immediate need to create awareness amongst the general public, patients, their families and doctors. Training of doctors to facilitate early and accurate diagnosis, standardisation of diagnostic modalities and development of newer diagnostic and therapeutic tools is an urgent requirement.

Lack of ‘Orphan Drugs’

Despite the progress that life sciences has made in the last few decades, availability of medicines and therapy related to rare diseases to prevent morbidity and mortality has remained low. As per a paper published in the Lancet, there is no approved treatment for 95 per cent of rare diseases. The number of people suffering from rare diseases also termed as ‘orphan diseases’ are comparatively small, hence they do not constitute a significant market for pharma companies. Drugs to treat rare diseases are also called ‘orphan drugs’ and very few pharma companies make these drugs as the cost of R&D is monumental.

Whither data?

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