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Making people realize that genetic problems are treatable is a big challenge

Dr I C Verma is currently the head of genetic medicine department at Sri Ganga Ram Hospital, New Delhi. He was earlier professor of paediatrics and genetics at the All India Institute of Medical Sciences (AIIMS), New Delhi. He received genetics training in UK, US and Switzerland. He is a Fellow of the Royal College of Physicians (FRCP), London, the American Academy of Paediatrics (FAAP), and the National Academy of Medical Sciences (FAMS), New Delhi.

Dr Ishwar Chandra Verma
Dr Ishwar Chandra Verma

Dr Verma has received a number of national awards — Ranbaxy Science Award, the Indian Council of Medical Research (ICMR) award, the National Academy of Medical Sciences (NAMS) award and Dr B C Roy (Medical Council of India) National Award. He is a member and vice chairman of the ethics committee of the International Human Genome Organization (HUGO) and serves as an adviser in genetics to the World Health Organisation (WHO) in Geneva, and to Roche Genetics in Basel, Switzerland.

He has been mentioned in the Limca Book of Records 2003 as a pioneer in genetics in India. He has vast experience in genetic counselling, serving about 2,000 cases with genetic problems every year, and bringing the benefits of genetics and genomics to large number of patients.

His clinical and research interests are in the management of foetal medicine and reproductive genetics, dysmorphology, genetic counselling and prenatal diagnosis using molecular, cytogenetic and biochemical techniques. He has also worked on the health problems of tribal communities in India, including those of Andaman Islands.

In an exclusive interview with India Medical Times, Dr I C Verma spoke about his current efforts and the path on which the human genetic research needs to go.

How did you develop an interest in Genetic Medicine?

I did MBBS from Amritsar then I went to England for postgraduate training in Liverpool. Liverpool was the home of genetics. In the early, Dr Clark (Dr Cyril Clarke) was a very famous geneticist and he discovered the Rh factor. There used to be many meetings on genetics. My interest sort of got started developing in genetics. When I came back to India in 1966, I joined AIIMS. Although I wanted to do neonatology but I was told there is no opening in that particular specialty and at that time AIIMS was starting genetics with the help of Swiss government and there was no one interested from the existing staff. I thought this is a new field and I already had some interest in it, that’s why I went into genetics. This was a part of paediatrics at that time and since that time I have been working in genetics.

Are there any particular individuals or events that played an important role in shaping your career?

My first three mentors were from the Amritsar Medical College, my alma mater: Dr R P Malhotra, professor of medicine at Amritsar Medical College. From him I learnt to take history of patients myself and not rely on history taken by residents or other colleagues; Dr P N Chuttani, from whom I learnt to take a thorough physical examination in every case; Dr Santokh Singh, principal (of the college), with whom I interacted as secretary of the students union. He taught me to always aim high in life.

When I went to England for training Dr C J Williams, consultant at Walton Hospital, Liverpool was my mentor. He was a self-taught man, as he has never worked in a “teaching hospital”. He taught me how to integrate the patient’s clinical features into a diagnosis, and not to ignore any feature not fitting into the obvious diagnosis.

In the field of genetics my mentors have been Dr Werner Schmid, professor of genetics in Zurich Children’s Hospital, who taught me to be meticulous in laboratory work and to continue doing the technique which worked rather than taking up any newly described technique.

During genetic training in Boston my mentor was Dr Lewis Holmes, who taught me the art of diagnosis in clinical genetics and the excitement of searching for a diagnosis.

How the area of genetics has evolved over the time? How can genetics and genomics help disease research and medicine?

I have seen a lot of change in this area over the years. The real change started with the Human Genome Project. Earlier in US, they could not charge for genetic service because at that time it was all a part of research and then they established American College of Medical Genetics. Then it became a specialty like any other specialty; they provided genetic counselling and charged for it. In India, the government has never shown much interest in genetics. In all cities these genetic disorders are quite important. So, there is no dearth of patients. We have very high birth rate, high population. We have more genetically affected patients than in any other country because in south India 40-50 per cent people marry their first cousins etc. This brings together the bad genes. The new generation born out of consanguineous marriages has more chances of abnormality. This has been going on since centuries. Each one of us is carrying some abnormalities and each one of us has two copies of genes, one from father and one from mother. If both the copies are abnormal you will get disease.

Here at our hospital, there are four geneticists working in the Unit. We see about 25 patients every day. Fifty per cent of the cases are related to pregnancies as everyone wants that their child should not be born with any abnormality. We try to detect any structural abnormalities. Some abnormalities can be detected by ultrasound but many of them, like thalassaemia, can be detected only by doing special tests. So, the area has advanced to an extent that we can detect any abnormalities faster and let the mother know about it.

With the help of technology we can check whether the normal gene has been transferred to the child or the abnormal gene. This was not available until 1980s. The tests are available for uncountable number of diseases. We can clinically detect chain muscular dystrophy. It can be treated by Exon skipping. Exon skipping is a technique by which we encourage the cellular machinery to ‘skip over’ an exon. Successful treatment by way of exon skipping can make the disease less severe.

Depending on what is the change in the gene, different treatments are coming up. Earlier, to find the problems we had to do DNA sequence. The method is quite costly running into lakhs that can cost a person dear. Now the new technology called Next Gen Sequencing has changed everything. Now, I can simply take the blood and check for genes at the cost of Rs 25,000-30,000. There are noninvasive tests being developed internationally and hopefully will come into India soon.

What is the current status of genetic disease research and advancement in technology in India?

The gap has narrowed down. The cost of equipment has come down. The human genome project earlier used to cost like 15 million dollars. Now, it can be done for ten thousand dollars. The technology for sequencing has changed. It is predicted that in few years, the whole genome could be studied in thousand dollars. In India, there are many laboratories and high-end sequencers, next generation sequencers, researchers. But for diagnosis, only a few are available. The area is getting quite popular among scientists. Something new is discovered every day. Government, through their funding agencies like the Department of Biotechnology, ICMR and the Department of Science and Technology, is giving a lot of money. But what is lacking is that the Ministry of Health is not establishing Department of Medical Genetics. Although some genetic training is given to MBBS students when they are studying but that is not enough. Much more focus needs to be given to this area so that patients can be counselled properly. It has not yet been recognized as a specialty. It is only a part of Paediatrics and Medicine, which is not enough. But in the private sector it is gaining ground. There is only one place Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, which actually trains people in medical genetics. But even after qualifying from there, they couldn’t get a job. But in last few years the moment anybody passes, he gets a job. Things have improved to a great extent.

What are important issues that are still prevalent in human genetics?

The biggest challenge when it comes to my profession is to make people realize that genetic problems are treatable. In fact, even doctors are lax in identifying problems as they think that genetic diseases are untreatable anyways. But now for even common diseases like diabetes and hypertension, genetic answers are available by determining genetic composition.

Of course, consanguineous marriages in India are proving to be a big challenge in dealing with ever increasing cases of marriage. Some countries have banned consanguineous marriages. But in India we cannot do that but at least we can make them understand that where in your family you have a genetic problem then do not marry consanguineously.

How has been your growth and experience while working at Ganga Ram Hospital?

I think the earlier part of my career was difficult because very few people were interested in genetics. Now, the acceptance is better. My own professor at AIIMS told me to use the equipment that we bought with the help of Swiss government for paediatric problems and not for genetic purposes. But now everyone acknowledges that every disease has some genetic component. We are now doing a study that all those who have heart diseases at young age they have a high cholesterol related to a gene called the Low-Density Lipoprotein (LDL) Receptor. So we are studying that gene and if we find a change in the gene and that gene gets transferred from parent to a child, the risk of child affected with heart disease at young age gets very high but it is treatable. We are also doing a study on Long QT interval. We are studying the gene that causes it.

Technology has helped me grow a lot too. Technology has empowered me so much that I feel I can literally do at least something for anyone who comes to me with problems. In the last five years, I have tried to bring in a lot of change. It has personally been a very satisfying journey.

Yes, if I went abroad I could have undertaken more research. Here, I could not do much research but I have been able to help so many people with genetic problems, which is more than fulfilling.

What are your research efforts and plans now?

I enjoy the genetic counselling sessions, helping patients to understand their diseases and guiding them to cope with their problems and overcome them. I am also engaged in starting a DNB National Programme in Medical Genetics to train six students every year who would be distributed in three centres, Sir Ganga Ram Hospital, Delhi, Kolkata and Hyderabad. This would be a small step in filling up the tremendous shortage of medical geneticists in the country.

I am carrying out research in finding out mutations in LDL receptor in cases of familial hypercholesterolemia and then screening other family members to prevent heart disease. I believe this is an underestimated cause of coronary artery disease in India. We are also investigating those with long QT interval, as a cause of sudden death, as recognizing the mutation can help to identify other relatives and save their lives. Adult polycystic kidney disease is one of the commonest genetic disorders and causes five per cent of end stage renal disease.

We are engaged in finding out the mutations in the PKD1 and 2 genes in these patients and exploring ways to treat these disorders. We are setting up next generation sequencing techniques for cheaper and affordable molecular diagnostic tests in various disorders like mental retardation, cardiomyopathies, retinitis pigmentosa and deafness.

We are also doing research on newborn screening. Through it we can identify diseases early and can successfully treat to allow a baby live a longer, healthier life. If left undiagnosed, these disorders can cause severe disability or even death. In western countries, it’s mandatory to screen newborn for common diseases. We, at Ganga Ram, screen (newborns) for at least three diseases. There is a technology to detect more than fifty diseases with the help of tandem mass spectrometry but that is very costly.

I urge the government to start newborn screening as a mandatory procedure. Also, genetic testing and treatment etc should be covered by insurance companies like in western countries.

Your message to our readers?

My advice to medical students is “learn to read the medical textbooks rapidly, rather than slowly”; incorporate new things that you learn into your existing framework of knowledge. And, of course, develop an interest in genetics, as you can no longer ignore it given the crucial role it plays in almost every sphere. For all those in medicine and its branches, they should read the Lancet and the New England Journal of Medicine regularly. This is a must for all residents and postgraduates.

For doctors, genetic diseases are treatable so be aware and sensitise your patients.

by Vidhi Rathee

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