Effective strategies can beat rare diseases

Rare sighting Needs extra care   -  Dmitrii Melgunov (Ritam)

The States have a central role to play by enabling a national policy to be set out, and implementing the programmes diligently

Today, India’s healthcare needs are undergoing a drastic transformation due to changing disease patterns and complexities. In light of this , it is vital to address the growing treatment requirements of patients. The Centre has initiated various measures to find sustainable solutions and make the country better prepared to face the numerous healthcare challenges.

Recognising rare diseases as a public health challenge, the ministry of health and family welfare recently approved and finalised the National Policy for Treatment of Rare Diseases. The policy is comprehensive and aims to improve the diagnostic facilities and treatment of lesser known disorders.

Need for policy

Rare diseases, by definition, are those which do not affect a large number of people and are often chronic. However, given the population, the number of patients suffering from rare diseases is huge. According to the Indian Society for Clinical Research (ISCR) there are an estimated 70 million patients living with a rare disease; approximately 50 per cent of those affected are children. The high mortality rate compounded by lack of awareness, dearth of diagnostic facilities and exorbitant cost of treatment made the policy a necessity.

Proposing an effective response to the issue of rare diseases, the policy has laid down some noteworthy provisions. One of the most significant is the setting up of a ₹100-crore fund for the treatment of rare diseases wherein 60 per cent of the contribution would be by the Centre and 40 per cent by individual State governments. It also recognises the need to sustain the corpus.

The policy further highlights the fact that health being a State subject, there is a need for States to come out with their respective policies. The formulation of a definition of rare diseases, creating web-based applications, and providing insurance cover for treatment are some of the other major features.

Constructive implementation is critical to the success of the policy. It has often been seen that even if a policy is robust, unsuccessful implementation can lead to policy failure, resulting in inadvertent health consequences for a large number of people.

Measures are already being taken in this direction: the MoH&FW has constituted an inter-ministerial committee to ensure coordination with various ministries and departments, and a central technical committee to handle the corpus fund at the Central and State levels, and develop technical requirements for the identification and treatment of rare diseases. However, the committees need to start executing the recommendations.

First and foremost, the technical committee should immediately send a guidance document to State National Health Mission directors and health secretaries calling for a PIP proposal document clearly outlining the identification of a nodal hospital in the respective States with adequate facilities for therapy administration and supportive care. The inter-ministerial committee must put forth a clear plan for sustainable funding sources to ensure uninterrupted treatment for children afflicted with rare diseases.

Additional measures

In addition, as a measure to provide immediate relief, treatment should be given to patients who have already been identified as having rare diseases. With respect to early detection, the nodal hospitals should systematically conduct genetic counselling especially in high-risk cases. As a longer term goal, newborn screening programmes for treatable rare diseases should be initiated and made mandatory.

The policy has been formed with the involvement of various stakeholders including representatives from MoH&FW, patient group organisations and eminent healthcare professionals. Each of them had a specific role to play and their coordination now would be essential to ensuring the policy’s smooth implementation.

Consistent involvement and ownership of the relevant stakeholders would include everyone’s perspective, thereby enabling the application of the policy in the best possible way.

It is thus clear that the Government has to take the lead to manage life-threatening conditions. To reiterate, a realistic policy intervention is important to control the growing threat of rare diseases. But what is also required is for States to be equally involved in implementing the action plan.

In this regard, adopting an evidence-based approach with specific roles for the various stakeholders is key to the productive implementation of the recommendations.

The writer is president of the Lysosomal Storage Disorders Support Society (LSDSS)

Published on February 19, 2018
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