Dr I.C. Verma has spent decades studying the challenges in diagnosing and treating genetic diseases. A former director at the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital, Delhi, he spoke to Siddhartha Mishra on what lawmakers need to address to tackle genetic diseases. Excerpts…

The status of diagnosis and treatment of genetic diseases?

We have advanced extensively in diagnosis and treatment with next generation sequencing. You can study multiple genes at a low cost. What used to cost Rs 1 lakh earlier, costs Rs 20,000 now. For treatment, precise diagnosis is needed. Also, there have been changes in treatment technologies like innovative therapies of recent years.

More than seven per cent of Indians are affected. Are these diseases really rare?

I think about eight per cent suffer from rare diseases in India. Many more are carriers of mutated genes, but are not diseased. Individually, these diseases are rare…70 million affected people is not a small number. You can’t compare the number with that of diabetes, or heart disease or hyper­tension. But many in the health ministry see it this way: the money used to treat one patient with a rare disease can save 1,000 diarrhoea patients. This mindset has to change. You cannot compare oranges with apples. People with rare diseases have equal rights to public money.   

And cancer…

The number of people with rare diseases would be more than ­cancer patients. The administrators ignored those with genetic diseases since there’s no cure. That’s the attitude before. But therapies are available now for several ­genetic disorders.

Challenges of diagnosis….

There is a lot of underdiagnosis. For example, for patients with mental retardation we do an MRI, a blood test, and tell them the disease. In many cases we can’t diagnose the cause. Now, with exome sequencing, we can examine all the 20,000 genes. With next generation seq­uencing tech, the diagnostic oddities have ended. But the government, or the Medical Council of India, doesn’t consider genetic disorders important. There are about seven places teaching medical genetics and so, a shortage of geneticists and counsellors. Worst, even if you produce them, there are no jobs.

What about parents-to-kids diseases?

A common genetic disease in India is thalassaemia. Delhi alone has around five per cent people carrying a gene for thalassaemia. If a person is a carrier, he or she will not have a problem. If both husband and wife are carriers there is a 25 per cent chance of their child having thalassaemia major, which requires repeated blood transfusions. In such couples, we can provide a prenatal diagnosis and ensure the birth of a normal child. Earlier, we used to test only if an affected child was born before. Also, spinal muscular atrophy…one out of 45 people is a carrier of the SMA gene in India…the second commonest disease in India after thalassaemia.

There are no guidelines. What next?

The government has to enact an orphan drugs law. Give incentives to companies to make enzymes and other treatment for rare disorders. And the government has to initially cover the cost of expensive therapies for affected children.  Even pooer countries are providing enzymes for their patients.

What about research in India?

We have a sizeable scientific community, but more translational genetic ­research should be encouraged.