Almost a year after the formation of the national rare disease policy and the constitution of a technical body at the Union ministry of health to tackle the challenge, millions of patients suffering from ‘orphan disorders’ in the country are not seeing much hope on the horizon, thanks to lack of proper epidemiological data, rampant red-tapism and ambiguity over fund availability.

Though the Union government has set aside a corpus fund of Rs. 100 crore to tackle the menace, there is general confusion prevailing over its actual disbursal and patients haven’t started receiving monetary benefits, say advocacy groups and healthcare professionals.

The World Health Organisation (WHO) defines rare disease as an often debilitating lifelong condition or disorder with a prevalence of one or less per 1,000 population. But different countries have their own definitions depending on their specific requirements. India, as of now, doesn’t have a standard definition but experts consider disorders that affect less than one in 2,500 people as rare diseases here.

Under the policy, the Central government will contribute 60 per cent towards spending on treatment, while state governments will have to bear the remaining 40 per cent of the cost. “But public health is a state subject and the primary responsibility to provide healthcare services lies with state governments. We need an effective mechanism to monitor corpus fund spending at regional level. Measures are needed to ensure that the states are adopting a pro-active strategy. In this regard, Karnataka’s efforts are commendable. Other states also should follow suit,” co-founder and executive director of Organisation for Rare Diseases India (ORDI) Prasanna Kumar Shirol told Pharmabiz.

In December, the central government sent a circular to the National Rural Health Mission (NRHM) to submit a list of rare diseases to health departments of state governments. “Every state is expected to submit a proposal but only Karnataka has submitted its report so far,” an official from a non-profit organisation said.

Rare diseases include genetic ailments, rare cancers, infectious tropical illnesses and degenerative diseases. It is estimated that 50 per cent of rare diseases begin in childhood. Union Health Minister JP Nadda recently asserted that the process of preparing a registry of rare diseases was initiated. He also assured full support from the government to provide cost-effective management and investigation facilities. Indian Council of Medical Research (ICMR) launched the registry, an organised system that uses observational study methods to collect uniform data, a few months back. But the initiative is still in its infancy.

It is estimated that one in 20 Indians is affected by one of the 7,000 diseases listed as rare diseases. “Awareness about rare diseases still remains minimal. Compiling Indian data for these diseases -- based on the epidemiological, phenotype and other factors -- should be the first and foremost step,” Shirol pointed out. The group led by him is holding grass-roots campaigns and events across the country to spread awareness about this issue which affects about 7 per cent of the population globally.

Top genetic experts welcome the rare disease policy as a long-awaited and much-needed initiative but stress that its quick implementation is imperative to reduce patient suffering.

“It is good in spirit. But we need to be proactive in implementing the initiatives. Most patients with rare diseases remain undiagnosed for a long period of time. Even if the diagnosis is on time, the family of the patient is usually unable to afford the cost of treatment. Insurance policies generally do not cover these life-long treatment expenses. Fund support by government or charities is the only hope for them,” says Dr Mamta Muranjan, who heads the Genetic Clinic at KEM Hospital.

Dr Mauranjan, a well-known name in this field, also emphasised the dire need to create awareness on the importance of timely and appropriate diagnosis and lauded the role played by non-profits and activists. “But we need to do more to increase access to funds allocated by the government among the patient community,” she added.

Though the draft rare disease policy is in place, its implementation remains an uphill task. After its formulation, the Central government issued a notice asking patients to identify a government hospital in their respective states. But state governments are yet to form technical committees to see what treatment is available locally and what drugs need to be sourced. In this scenario, there is no clarity in who will clear the drugs or who will bear treatment expenses, health activists added.