Rare Disease Policy 2021 good but more needs to be done: Experts

The new Rare Disease Policy 2021 is a positive step, but more needs to be done, experts and patients in the sector have asserted. “Implementation through multi-stakeholder planning and equity consideration and strengthening sensitization/ awareness efforts, new-borne screening tests in every hospital to ensure early detection and treatment, insurance coverage, research, drug development and sustainable financing is the need of the hour,” they emphasized.

“Despite diagnostic technological advancements, awareness of these conditions at the grassroots level is still required for timely referral, which can facilitate early diagnosis and timely initiation of therapy which is available for a few but evolving very rapidly,” co-founder and Executive Director of Organization for Rare Diseases India (ORDI) Prasanna Kumar Shirol said here. For its part, the ORDI in collaboration with AIIMS Delhi will hold an event ‘Racefor7’ comprising seven-kilometre walk and cycling on March 12 in the national capital to raise awareness about the need of the sector.

Samir Sethi – Chairman -ORDI Advocacy Committee and President Indian Rett Syndrome Foundation asserted that the need of the hour is indigenous drug development for the rare diseases.

“The National Rare Disease Policy, 2021 states that pharmaceutical industries would be encouraged to develop drugs for rare diseases. The Pharmaceuticals Department will be roped in to create a conducive policy framework for domestic pharmaceutical companies to focus on the research development and manufacturing of indigenous drugs for curing rare diseases”, he said.

While appreciating setting up of the eight centres of excellence (CoEs) to look after rare diseases, Dr Neerja Gupta additional professor, division of genetics, department of pediatrics, AIIMS, lamented that “patients still don’t know where to go…they always first come to OPD and from there, they are directed to go fobut there still exist gaps. For instance, patients still don’t know where to go…they always first come to OPD and from there, they are directed to go for the nearest centre of excellence.

“The current financial benefit is solving the problem, but not for all. Majority of the patients are on supportive management for rare diseases and the costs of the drugs are quite high as they need to be procured from abroad,” she added.

Take the case of Ayushmaan (24) and Abhimanu (22) who suffer from Cystic Fibrosis, a life-limiting genetic condition where mucus clogs up the airways. They shared that their families are doling out huge money for their drugs and medications that keep them alive.

“There are no insurance policies neither we are covered under PWD Act that can ensure jobs for us,” they said underlining that they too can lead a better life if given necessitated support. Sarika Modi, Director, Spread Home Products flagged concern about 18% GST and the 100% Custom Duties levied on life saving food and medicines which are unnecessarily adding to the woes of the affected families of patients with IEMs ( Inborn Errors Of Metabolism ), yet another kind of rare disease.

According to experts, worldwide, there are around 7,000 rare genetic disorders and 30 crore people are suspected to have these rare disorders.

Rare diseases like beta thalassemia, spinal muscular atrophy, Duchenne muscular dystrophy, cystic fibrosis, inborn errors of metabolism and paediatric neurological disorders are commonly reported in India which is home to around 5-10 crore patients with rare diseases. But many die in want of timely diagnosis and treatment.