“The last 15 days, my life has been a suspense story. Little had I known that my search for rare stories would make me find a rare disease…” 51-year old actor Irrfan Khan shared a heart-breaking message with his fans, urging them not to speculate until he returns to reveal more.
The lives of others, especially significantly famous others, evoke much curiosity. But, rare diseases are rarely discussed. This is why, despite a national policy draft having been put in place by the Central government, there’s a lack of awareness among clinicians, dependence on medicines sourced from foreign companies and no institutional push for compulsory pre-natal or new born screening. Rare diseases include inherited cancers, autoimmune disorders, congenital malformations, and infectious diseases amongst others include Hemangiomas, Hirschsprung disease, Gaucher disease, Cystic Fibrosis, Muscular Dystrophies and Lysosomal Storage Disorders. The more common ones from out of 7,000 rare diseases are Down Syndrome, muscular dystrophy, haemophilia, thalassemia and autism.
It is not just children who suffer from rare diseases. For instance, a study titled ‘Rare Cancers: Challenges and Issues’ published in the Indian Journal of Medical Research states that ‘As per the Delhi Cancer Registry (DCR) data31, approximately 60.9 percent of males and 46.4 percent of women fall into the category of rare cancers. Correspondingly, taking the IRCI definition, the DCR data showed rare cancers in 19.4 and 23.0 percent males and females, respectively.’ The study, authored by Raveendran K Pillai and K Jayasree lists cancer of the gall bladder and cervix as common in India. While most LSDs are diagnosed during childhood, diseases like Fabry and Pompe can be diagnosed even after three years of age. To adults, diseases like Adrenoleukodystrophy, Huntington’s Chorea and Marfan syndrome can happen.
On 28 February, which is observed as World Rare Diseases Day, multiple references to this policy were made. Speaking at a conference organised by the NGO Indian Organization for Rare Diseases in the capital, Union Health Minister JP Nadda said that after formulating a national policy for rare diseases in 2017, the government was in the process of preparing a registry of such diseases. He also declared that it will provide full support in terms of cost-effective management and investigation facilities. At another event organised by patient group association Lysosomal Storage Disorders Support Society (LSDSS), the joint secretary, MoH&FW who led the formulation and the finalisation of the rare diseases policy, said that a Rs 100 crore fund had been set aside for the cause by the union government and that was an element of hope. For this, he added that the formation of Technical and Administrative committees had been proposed and the policy was just the first step and implementation would require the coordination of both committees.
“The policy draft was formulated in a hurry, based on a PIL filed in 2013 by a rickshaw puller whose child Mohammad Ahmed was diagnosed with Gaucher, a rare enzyme deficiency that results in the accumulation of harmful quantities lipids (fats) especially within the bone marrow, spleen and liver. So, the first thing the parent did was take the child to All India Institute of Medical Sciences (AIIMS) and the price quoted by the hospital was nearly Rs 4.80 lakh a month for enzyme replacement,” said Prassana Shirol, who co-founded the health advocacy and awareness community Organisation for Rare Diseases India (ORDI) in 2014. Adv. Ashok Aggarwal filed a PIL on behalf of the father and the judgment in the case of Mohd. Ahmed (Minor) vs Union Of India & Ors came in 2013 in favour of the applicant. The judgment stated: “Government is bound to ensure that poor and vulnerable sections of society have access to treatment for rare and chronic diseases, like Gaucher especially when the prognosis is good and there is a likelihood of the patient leading a normal life. Although obligations under Article 21 are generally understood to be progressively realizable depending on maximum available resources, yet certain obligations are considered core and non-derogable irrespective of resource constraints. Providing access to essential medicines at affordable prices is one such core obligation. Since a breach of a Constitutional right has taken place, the Court is under a duty to ensure that effective relief is granted.”
Speaking to Firstpost, Adv Aggarwal said that despite the judgment and the allocation of funds, patients haven’t started receiving monetary benefits. “In a recent case, the Jharkhand High Court had to give directions to the state government to bear 40 percent of the cost of six-year-old Shaurya Singh, who is suffering from Hunter’s Syndrome. On the strength of this policy, we are able to put pressure on different institutions to acknowledge the problem. There are also 13 to 14 beneficiaries covered under the Employees’ State Insurance in Tamil Nadu and Haryana, Chennai, Karnataka,” said Adv. Aggarwal. He also informed us that the Central government told the Delhi High Court that it is looking into 39 cases.
Despite a big effort made towards bringing the issue into the attention of the judiciary and the government, Prasanna Shirol, who works closely with parent and doctor groups connected to ORDI, feels that implementation still seems difficult. “Later on, the government issued a notice that the patient has to identify a government hospital in the state. However, unless state governments form a technical committee to see what treatment is available locally and what drugs need to be sourced and look into whether the drugs needed have been approved by the Drugs Control Administration (DDCA) and lay out clearly who will approve it, the Centre or the state?” explained Shirol. He added that the government has laid down a procedure whereby patients have to approach the health secretary through an online application but wonders how many patients’ families are able to understand the procedure.
“In December, the central government sent a circular to the National Rural Health Mission to submit a list of rare diseases to health departments of state governments. Now every state has to submit a proposal but only Karnataka has submitted its report till now,” Shirol rued over the lack of research that results from the dearth of genetics medicine specialists in India. There are three institutions that offer the Doctorate of Medicine in Medical Genetics. There are the Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS) in Lucknow, Uttar Pradesh, the Datta Meghe Institute of Medical Sciences (DMIMS) in Wardha, Maharashtra and All India Institute of Medical Sciences (AIIMS). There’s also a DNB (Medical Genetics) course conducted by three institutions of India: National Institute of Biomedical Genomics (NIBMG), Kalyani; Sir Ganga Ram Hospital (SGRH), New Delhi; The Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad. Among the handful of institutions that offer fellowship courses is Christian Medical College, Vellore.
As stated in the draft of the National Policy for Treatment of Rare Diseases, “If we apply the international estimate of 6 percent to 8 percent of population being affected by rare diseases, to India, we have between 72 to 96 million people affected by rare diseases in the country, which is a significant number. So far, only 450 rare diseases have been recorded in India.” The policy quotes a 2015 research work “Rare Disease Terminology and Definitions — A Systematic Global Review: Report of the ISPOR Rare Disease 28 Special Interest Group,” which concluded that attempts at ‘harmonising the differing definitions should focus on standardising objective criteria such as prevalence thresholds and avoid qualitative descriptors like severity of the disease.’ The policy states that disease prevalence may not be a sure shot basis for defining rare diseases, since it doesn’t take into account the changes in population over time.
Dr Seema Thakur, Fetal Medicine Doctor at Fortis Hospital, Gurugram feels that the policy will remain on paper unless there is a structural mechanism of generating awareness among healthcare providers at the district and the village level. “Rare diseases can be diagnosed in the 11th and 12th week of pregnancy and the fetus can be terminated. We need to establish a referral pattern to diagnose this disease, one standard procedure that should become compulsory and known to all,” she explained that genetic disorders aren’t synonymous with inherited disorders and in fact in as many as 85 percent of the cases, these will be diagnosed for the first time in the family. In the case of Lysosomal Storage Disorders, metabolism keeps slowing down and the child ends up with mental retardation or physical handicap or both.
Right now, treatment is mostly available through charitable access programmes of Genzyme and more recently Shire (both private companies). “The government should have a corpus fund for manufacturing and supplying such medicines,” Dr Thakur feels the advocacy through community networks is dispersed and stresses on the need for serious institutional support. She remembered the case of 7-year-old Ankit who died two years ago. “His parents had got him here from Varanasi, but because of the criteria of one of the private organisations that the child should be severely affected to receive free medical aid, the treatment didn’t start on time. These companies cannot be held accountable because they are doing charity and are burdened with the load of hundreds of patients,” Dr Thakur painfully revealed.
Reflecting on the lack of research, Dr Manjit Singh, President of the Lysosomal Storage Disorders Support Society (LSDSS), said one of the reasons that curing a disease like Morquio Syndrome can cost up to Rs 4 crore a year is that American Companies that have made the medicine have spent billions of dollars on research. “If research was done here, treatment would have been in our reach. Today, because of the collaborative effort of the European Gaucher Alliance, 200 children are getting medicines free of cost,” he suggested that funding on research is essential, especially because India doesn’t have something like the Orphan Drugs Act of 1983, which incentivises R&D efforts for such drugs to treat millions suffering from orphan diseases. Following the act, EU, Japan and Australia too laid down a strong legal framework to combat rare diseases.
Closer home, in what is a positive development for the field, Bengaluru is becoming a hub for companies that do commercial testing. These include Strand Genomics, CentoGene, MedGenome and Eurofins India. Dr Sunil Tadepalli, General Manager of CentoGene, which offers more than 1,700 routine genetic and biochemical tests, told Firstpost that a pulse polio like national programme is needed for genetic testing. “Today, nearly 80 percent Chinese babies are being screened for genetic disorders. But you’ll be shocked to note that the newborns screened in India are less than one percent,” Dr Tadepalli, who has vast experience in genetic testing in India and West Asia, underlined the reason for this as the lack of political will. There are to 30 to 50 disorders that can be eliminated through new born screening, these include Phenylketonuria and Congenital Hypothyroidism. The Genomics for Understanding Rare Diseases India Alliance Network (GUaRDIAN) does next-generation sequencing, genotyping micro-arrays and extensive computational analysis. Dr. Vinod Scaria, its Co-founder and Investigator Scientist, told Firstpost that affordability of genetic tests is an issue as they cost somewhere between Rs 10,000 and Rs 80,000. “A lot more people will get diagnosed if these tests are made available to them at subsidised rates, through government or CSR intervention,” he suggested.
One good impact of the policy, shared Dr Thakur, is that the accuracy levels of genetic tests have gone up from less than five per cent to 50 per cet. “It costs around Rs 30,000 to send my sample to Bengaluru and just about Rs 45,000 to send it overseas to German labs and the results are more or less the same,” she stressed on the need for more labs, especially in north India. Hospitals that refer patients for enzyme assembly testing include government hospitals like Ganga Ram and AIIMS in Delhi, Institute of Child Health in Bengaluru, King Edward Memorial in Mumbai, Sandor Lifesciences in Hyderabad, Apollo in Chennai, Sanjay Gandhi Postgraduate Institute of Medical Sciences in Lucknow and PGI Hospital in Chandigarh. But the reach is limited to establishments in bigger cities because practitioners spread across smaller towns and thousands of villages have neither the awareness nor the equipment for enzyme assembly testing.
The policy draft is just a late first step to tackle rare diseases.
Updated Date: Mar 10, 2018 17:04 PM