Rare diseases: states must intervene

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most of these diseases are genetic and often affect patients in childhood. They are progressive, debilitating and acute in nature and, therefore, they can have a grave physiological and psychological impact patients and their families.

Further, there is always a high level of complexity associated with these diseases, making the limited therapies available expensive and unaffordable to a majority of the patients. To add to the burden, delayed diagnosis and limited access to treatment often prevent patients from receiving timely care.

To address these challenges, a comprehensive policy focusing on the needs of rare disease patients becomes important. Toward this end, the National Policy for Treatment of Rare Diseases (NPTRD) which was approved recently by the Ministry of Health and Family Welfare is a welcome step.

This is an encouraging way forward as a well thought out policy could definitely help clear some of the hurdles asso ­ciated with rare diseases, if pro ­perly implemented. The policy recommended is comprehensive and includes all major aspects: formulation of a definition of rare diseases, setting up of a corpus fund, creating web based applications etc.

Although the policy is holistic, the challenge and the need of the hour is to implement it in a patient-friendly manner and to make it more applicable. This might not seem easy, but measures have already been taken in this direction.

Additionally, an even bigger task is to ensure that the benefits reach countrywide, by getting the states more involved in the process. State policy interventions for the treatment of rare diseases need to be given a push. State governments need to begin adopting guidelines from the NPTRD actively. To make the national policy effective, it is important to consider some important facets.

Each state will have an individual policy depending on the ground reality, statistical and other unique situations in every place. The national policy cannot be replicated in each state and will have to be modified. However, the state polices, too, must include broader aspects like improving awareness of rare diseases, fostering research into rare diseases, establishing centres of excellence, encouraging and empowering patient communities and strengthening the healthcare infrastructure.

Patient-friendly

The state policies must be framed such that every state government identifies and works with the local medical team or group, which can specifically look into rare diseases, their diagnosis and treatment. This kind of focused intervention will deliver rich results and make the policy more patient-friendly. Besides, a local committee in every state can be formed and an immediate provision of funds be provided to help deliver measurable, substantial results.

India is such a vast country that the needs and conditions of its people change every few kilometres. Keeping this in mind, states must be given the freedom to decide whether the policy needs to be implemented altogether or partially. After all, local policymakers would understand their needs and requirements far better.  

A case in point is Karnataka. The state has already taken the lead in this respect and work has begun in earnest. It is the first Indian state to come up with a draft of a Rare Diseases and Orphan Drugs Policy which is presently under consideration. This is good news for all rare diseases patients and their families in the state.

The policy recommends the implementation of preventive and carrier testing as a means of reducing morbidity and mortality. It also suggests that education be used as a tool to combat delayed diagnosis and treatment. It calls for the enactment of an orphan drugs statute to allow for tax breaks, funding and exclusive marketing rights as incentives for orphan drug discovery.

It is now time for other states to emulate Karnataka and do their bit. People suffering from rare diseases are already going through a lot, and they will need all the support they can get from all quarters. It is the responsibility of not only the central government but also the state governments to play an integral role in implementing and adopting policies and programmes which can help the patients receive proper, accessible care and affordable treatment.

(The writer is co-founder and executive director, Organisation for Rare Diseases India (ORDI))

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