The policy comes over three years after the health ministry formulated a National Policy for Treatment of Rare Diseases in July 2017 but kept it in abeyance. In the new policy, formulated after detailed stakeholder consultations, ‘rare diseases’ have not been defined but classified into three groups based on expert opinion.
Group 1 has disorders amenable to one-time curative treatment, including osteopetrosis and Fanconi anaemia. Group 2 has diseases requiring long-term or lifelong treatment with relatively lower cost of treatment and benefit has been documented in literature, including galactosemia, severe food protein allergy, and homocystinuria. Group 3 has diseases for which definitive treatment is available, but challenges are to make optimal patient selection for benefit, and very high cost and lifelong therapy, covering diseases such as spinal muscular atrophy (SMA), Pompe disease, and Hunter syndrome.
The policy says the government would provide financial assistance of up to Rs 20 lakh to poor patients and those covered under Ayushman Bharat for diseases under Group 1.
The state governments would be asked to undertake treatment of diseases covered under Group 2, which largely include disorders managed with special dietary formulae or food for special medical purposes (FSMP) and disorders that are amenable to other forms of therapy.
For diseases classified under Group 3, which require life-long expensive treatments, the government would create a digital platform to bring together Centres for Excellence, patients undergoing treatment and corporate donors or prospective voluntary individuals who could help fund treatment.
Experts and caregivers working with rare diseases patients said the government must do more.
“The Centre needs to work out mechanism to fund all three categories,” said Ashok Gupta, in-charge of Rare Diseases Centre at Jaipur’s JK Lon Hospital. “The cap of Rs 20 lakh for Group 1 disease will not meet requirements. Treatment of rare diseases is expensive. For Group 3 also the government should work out a 60:40 model where 60% could be funded by charitable organisations and 40% by the government. If you have Rs 35,000 crore for Covid-19 vaccination programme, something can be done for such expensive treatments, which no family can afford.”
Some parents of children suffering from rare diseases said they felt that the government has given up on them.
“There are no timelines on when this digital platform would be functional,” said Archana Panda, parent of a child suffering from spinal muscular atrophy and cofounder Cure SMA Foundation of India, a parent-led community to raise awareness about this rare disease. “Diseases like spinal muscular atrophy don’t give you time. It is like the government has given up on rare diseases patients who have to undergo lifelong treatment. The policy does not spell out the role of private hospitals. Sir Ganga Ram Hospital, which sees the highest number of rare diseases patients in India, does not even figure in the list of Centres of Excellence,” she said.
The government has identified eight Centres of Excellence, including AIIMS Delhi, Maulana Azad Medical College, Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow, PGIMER Chandigarh, King Edward Medical College Mumbai, Centre for DNA Fingerprinting and Diagnostics Hyderabad, Institute of Post Graduate Medical Education and Research Kolkata, Centre for Human Genetics with Indira Gandhi Hospital Bengaluru.
Dr Gupta said more centres need to be identified. “At least two centres in every state needs to be identified as a centre of excellence,” he said. “It will help patients as the time and cost of moving them is also a lot.”