Mandatory screening, drug subsidies may cut newborn deaths due to rare diseases

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.”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.Currently, only one in 20 Indian patients get diagnosed with a rare disease.