NEW DELHI, Feb 27:
India could significantly reduce the deaths of newborn babies caused by rare genetic diseases by making genetic screening mandatory in government hospitals and subsidising the required drugs, experts say.
While there is no formal definition for a rare disease, global health bodies say that it is characterised by three factors — the total number of people having the disease, its prevalence and non-availability of treatment.
“The government is not paying much attention to the cases of rare diseases thinking it as a rare case,” Manjit Singh, President of Lysosomal Storage Disorder Support Society of India (LSDSS), said.
“However, there is a need for genetic testing laboratories in the every government hospitals to understand the real problem,” he added.
A newborn screening (NBS) test looks for various developmental, genetic, and metabolic disorders in the newborn.
This allows steps to be taken before symptoms develop. Most of these illnesses are extremely rare, but can be treated if caught early. India currently has over 8,000 patients with rare diseases, which includes genetic disorders like rarest of rare ones such as Hunter Syndrome, Gaucher Disease and Fabry’s Disease. While Fabry’s Disease interferes with the body’s ability to break down a specific fatty substance, Hunter Syndrome is a serious genetic disorder that interferes with the body’s ability to break down specific mucopolysaccharides. Currently, all rare diseases get diagnosed at a much later stage when treatments are not much effective.
The early diagnosis of such disorders during birth can be much useful in terms of medication enabling the patients to lead a normal life. According to the Organisation for Rare Diseases India (ORDI), there are 7,000 known rare diseases in India with a total of 70 million rare diseases patients in India.
Currently, only one in 20 Indian patients get diagnosed with a rare disease.
Prasanna Shirol, Founder Director of ORDI, said that almost half of rare disease patients in India are children, an important fact that often does not get highlighted enough.
“We urgently need national and state policies that address the unique requirements of the rare disease community and enable them to lead lives of dignity and self-worth,” Shirol said.
“We also need institutions like corporates, schools and colleges to create a more inclusive environment for rare disease patients,” he added.
Doctors said that there is also a need for the government to negotiate with the pharmaceutical companies and subsidise the medicines used in rare diseases as they are priced extremely high.
According to the health advocacy groups fighting for the cause of rare diseases in India, the medicines to treat such diseases range anywhere between Rs 1 lakh to Rs 50 lakh per month.
In 2017, the National Policy for Treatment of Rare Diseases (NPTRD) was announced by the Indian government with a corpus of Rs 100 crore to provide financial assistance for the treatment of rare disease patients.
However, in November last year, the health ministry put on hold the policy and the corpus amount, saying the focus was currently on communicable and non-communicable diseases.
Since then there have been several representations to the central government from organisations including LSDSSI seeking reinstating of the policy and funds to support the patients.
ORDI said that it takes an average of seven years to diagnose a rare disease due to lack of awareness and scientific facts.
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