Genetic tests gaining popularity for diagnosis & treatments in India

Aryan Ramsinghani reached infant milestones like crawling and sitting up at expected times. But in 2004, when he was around two, he slipped from his uncle’s shoulder and hit his head on the floor.
Then things changed. “He fell whenever I made him sit up,” says his mother Riddhi. She and her husband, who live in the Mumbai suburb of Chembur, decided to get medical help. Ramsinghani’s doctors ran a series of tests, including a magnetic resonance imaging (MRI) of the brain, and diagnosed him with a rare genetic disease called leukoencephalopathy with vanishing white matter disease, which affects the brain and the spinal cord. They were puzzled.

What had caused this progressive neurological disorder in their toddler? The Ramsinghanis decided to get a genetic test done. At the time, The Netherlands was the only country that had the technical knowhow for the test, so they sent their blood samples along with the child’s.

What followed was a long and uncertain wait. The test took two years, at the end of which they were told the cause was indeed genetic — a variation in both copies of a gene inherited from his parents caused this disease. (We all inherit one copy of a gene from each parent.) His parents were carriers, which means each of them had just one abnormal copy of the gene and so did not have the disease.


“Now the same test can be done in India in 3-4 weeks,” says Dr Vrajesh Udani, a paediatric neurologist at Mumbai’s Hinduja Hospital, who diagnosed Ramsinghani. While the Ramsinghanis did not have to pay for the genetic test in 2004 since it was done as part of research on the disease, its cost then would have run into lakhs of rupees. But now, it can be done for just Rs 20,000-35,000.

This is a sign of how far genetic testing has come in India, with an increasing number of tests being done here and a lot them costing half as much as they did five years ago. Moreover, tests that took weeks can now be done in days.


Genetic testing is being used for a variety of purposes — right from confirming a diagnosis as in Ramsinghani’s case to checking someone’s predisposition to a disease to deciding the course of treatment for certain cancers. “It’s not just about knowing the risk, but looking at particular genes for actionable insight,” says Sooraj Ratnakumar, cofounder of Swagene, a Chennai-based genetesting company.

There is no cure yet for Ramsinghani’s disease and he is wheelchair-bound. “People with this condition deteriorate, but thank god he is stable,” says Riddhi. His diagnosis led his parents to make sure their second child did not also have the same disease. When Riddhi was pregnant again in 2009, she got a prenatal genetic test done and it turned out the foetus was just a carrier like the parents. (The samples were again sent to The Netherlands and the test cost them Rs 60,000, while it can now be carried out in India for a tenth of that.)


Riddhi had the baby and named her Kanak, who is now a healthy 10-year-old. To avoid her children getting the disease, Kanak will have to make sure she does not marry another carrier, which can again be confirmed with a genetic test. Leukoencephalopathy with white matter disease is caused by mutation in any of five genes — EIF2B1 to EIF2B5 — and Ramsinghani had a mutation in EIF2B5.

Genetic tests in India can cost anywhere between Rs 3,000 for something like thalassemia, a blood disorder marked by inadequate haemoglobin production, and Rs 1 lakh for whole genome sequencing (WGS). This is significant since the first effort to sequence a genome took 13 years and cost nearly $3 billion. The genome comprises all of our deoxyribonucleic acid (DNA), which carries our genetic information. The DNA molecule contains four chemical units, expressed in letters A, T, G and C. WGS looks at the order of three billion pairs of these letters.


There are around 20,000 genes (made of DNA) in every cell of our body, which act as instructions to make molecules called proteins, which then determine the structure and functioning of our cells, tissues and organs. Mutation in any one of these genes on their own or in combination with mutations in other genes or with environmental factors can cause a disease. “The explosion in genetic testing is as big as the internet and the industrial revolution,” says Udani, who on an average prescribes one genetic test a day.

Dr Girisha Katta, professor of medical genetics at Kasturba Medical College in Manipal, says there is no branch of medicine that does not require genetic testing. “Only the degree varies.”

Paediatrics, foetal medicine, oncology and haematology may use genetic testing more than, say, pulmonology. Around 80% of the 7,000-odd rare diseases are genetic in origin, according to Global Genes, a non-profit organisation.


As per a Union health ministry report from March 2017, around 450 of these diseases have been recorded in India.

Ramesh Hariharan, cofounder and chief executive of Strand Life Sciences, believes most of the tests can be done in a week. “But to be cost-effective you have to wait for enough samples.” Multiple samples can be processed at the same time. Strand offers tests ranging from Rs 15,000 to Rs 40,000.

According to industry sources, there are around 20 genetesting labs in India and around 50 companies in the space, most of whom outsource the tests to external labs in India or overseas. The size of the industry is pegged at Rs 300-400 crore, which has been growing at 30% annually over the past couple of years. The most prominent companies in the space are homegrown MedGenome and Strand Life Sciences and global players such as Centogene and Eurofins. Some major hospitals also have their own labs.

These companies focus on genetic tests ordered by clinicians, while the likes of Mapmygenome concentrate on what are called direct-to consumer (DTC) tests, which account for less than 10% of India’s genetic-testing market. Thanks to people’s curiosity about their ancestry, DTC tests offered by companies such as Ancestry.com and 23andMe are on the rise in the US, with orders ballooning from 4.5 million in 2017 to 26.5 million in early 2019, according to MIT Technology Review.

But Indians are not nearly as likely to shell out money to find out more about their lineage. Most DTC tests in India are to do with wellness and nutrition and knowing your susceptibility to certain diseases.

Vedam Ramprasad, chief operating officer of MedGenome, calls DTC tests “recreational”. “Clinical diagnostics is saturated in the US so they are moving to DTC. In India, we don’t even have enough labs to tackle genetic diseases.” He adds that it is not possible to use genetic tests to determine one’s predisposition to diseases like diabetes and hypertension, where multiple genes may have a role to play, in addition to lifestyle factors. “We don’t really tell people whether or not they will get a disease. We just tell them that if a disease runs in their family, they are more at risk than others and they need to be careful,” says Anu Acharya, CEO, Mapmygemone. Some 70% of her company’s business comes from DTC tests.


MedGenome, which was founded in 2013 and has raised $64 million in funding from several investors including Sequoia and HDFC, processed about 85,000 samples in 2018 and the number is expected to rise to 120,000 in 2019. The company’s College of American Pathologists-accredited genetic-testing lab in Bengaluru’s Electronic City has stateof-the-art sequencers, which resemble mini-refrigerators hooked to copiers. Around 40% of its tests are whole exome sequencing, which look for mutations in all the proteincoding genes. This is helpful when the symptoms are nonspecific or when the symptoms are common to more than one genetic disease.

In several forms of cancers, genetic testing is used to determine which medicine or treatment procedure will best work for the patient. For instance, when Delhi-based teacher Vaidehi Mishra (name changed) was diagnosed with ovarian cancer in December 2018, the 50-year-old underwent a genetic test to see if she had inherited an abnormality in her BRCA1 or BRCA2 gene — her mother had died of ovarian cancer. She tested positive for a mutation in BRCA1, which meant she could be put on the cancer drug Olaparib after chemotherapy. The drug is only for certain types of ovarian or fallopian tube or primary peritoneal cancers.


“The doctor suggested we get our son (25) and daughter (21) also tested for the mutation,” says her husband Prakash (name changed), who works with a multinational chemicals company. They are awaiting the results. Dr Manish Singhal, the oncologist at Indraprastha Apollo Hospital in the capital who has been treating Mishra, says genetic testing has made a huge difference in breast, ovarian, prostate and pancreatic cancers. Now around 60 of his patients undergo a genetic test annually, compared with just 2-3 some years ago.

Among the constraints in genetic testing in India are the lack of sufficient medical geneticists to analyse and interpret the data thrown up by these tests and the inadequate understanding of genetics among clinicians. “Medical genetics is still not a prominent part of the medical curriculum,” observes Katta. Geneticists are also worried about the absence of guidelines for gene-testing labs. Equally important is counselling patients and their families before a genetic test about its implications.

While falling prices have helped increase the adoption of genetic testing, the fact that these tests are not covered by medical insurance, unlike in the US, has been a barrier, according to Hariharan. Coverage of genetic disorders by insurers is not mandatory either, after a Supreme Court ruling last year, which has affected patients like Aryan Ramsinghani.

It is evident that genetic testing is now key to several clinical specialties and will only become more so. But that has to be accompanied by better awareness of its potential and consequences among patients and high standards in the labs.