Express Pharma
Home  »  Cover Story  »  In Your Genes

In Your Genes

Read Article

Genetic testing is gaining ground in India with a spurt in the number of companies offering personalised tests. And while most of them might just be scratching the surface, there’s no doubting the potential By Shalini Gupta


Angelina Jolie’s recent op-ed in a leading newspaper in the US might have prompted a discussion on women’s health, but it has also pointed out the importance of genetic tests, one that went on to reveal her mutation for the BRCA1 gene. Soon after the discovery of the DNA, scientists have attempted the sequencing of the genome to better understand risks and mutations that genes carry. While the first sequenced human genome cost nearly $3 billion, sequencing costs have dropped substantially since then, and today doctors, particularly in the US have begun using some patients’ genome sequences to improve their care. The $1000 genome is almost here too. India is also seeing a surge in personalised genetic testing, although it is pretty nascent.

Exploiting the market

Genetic testing represents the most rapidly expanding segment of the molecular diagnostics market worldwide, with the US being the largest market. Within genetic testing, the market for newborn screening, diagnosing rare and fatal disorders, and predicting the probability of occurrence of diseases is likely to expand. When it comes to India, many believe these are early days and although the potential is huge, less than one per cent of the probable market is being exploited right now. However, all is not lost. In a recent development, Mapmygenome, a Hyderabad- based start up in this space, raised approximately $1.1 million from a group of angel investors. The excitement is palpable.

Anu Acharya

Anu Acharya, Chief Executive Officer, Mapmygenome, a company that she incepted in 2011, which started selling tests in 2013 (after a two year incubation period) shares her views, “Genomics can help pre-empt a disease one might be at a risk for, rather than struggling with the problem, one can take corrective steps before the disease strikes.

Although these are still early days, we are hopeful it will take off, even if it takes time. Better understanding of genes and mutations can help us spend whatever little we spend on health right now, in a much better way.”

The company’s flagship product, Genomepatri can scan for 120 conditions by looking at 70,000 markers and has sold more than 2000 tests so far.

Even as supposedly healthy individuals can go for a test to understand their health risks, global Prenatal and Newborn Genetic Testing market is expected to grow at a CAGR of 31.91 per cent over the period 2014-2019 as per some reports. Increasing awareness on the importance of prognostic and predictive screening, such as maternal screening, has also seen players targeting this segment. For instance, Igenomix India, a subsidiary of its parent company Igenomix in Spain, specialises in reproductive genetic testing. The company which has done business worth $916,000 in 2014-15 and is growing at the rate of 45 per cent annually, sees India as a promising market.

Francisco Rodriguez

Chips in Francisco Rodriguez, Business Development Director – India and Middle East, Igenomix, “The knowledge and awareness of reproductive genetic tests in other developed countries such as the US and Europe in comparison to India is higher, since they have been readily available to all for more than a decade now. India has just started to see the tip of reproductive genetics. There is a lot of potential in this market and very few players. We are glad to have brought such advanced services and technology to a growing market.”

Samarth Jain

Positive Bioscience which started a personal genomics clinic last year at Medanta, Delhi offers tests for healthy individuals as well as those specifically for cancer patients to direct them to the right treatment. “Genetic testing historically has looked at a very small piece of the pie-1 or 2 genes vs 25 to 30,000 genes while genomics is the study of all or most of the genes. We started with the idea to bring genomics in India, have a meangingful impact on the Indian health system. Our cancer test rank high in revenues as compared to personal genomics which is slowly catching up,” says Samarth Jain, Chief Executive Officer and Co-founder, Positive Bioscience. The company which was getting 100-150 samples per month a few months back, has been steadily growing. Today the company has clinics at Kokilaben Dhirubhai Ambani Hospital and Breach Candy hospital, both in Mumbai.

“There is no hospital in the US which is not offering personal genomics, in India when we started there was not one such hospital. We wanted to replicate the model seen at institutions abroad where hospitals offer allied services shifting focus from reactive to predictive healthcare,” he adds.

A viable strategy

Unlike the US, where such tests have been there for a decade now, it is been only a year and a half for some players while others are still setting up shop.

Analysing the market, Amit Mookim, Country Principal, South Asia, IMS Health offers an overview, “There are three to four companies out there on the radar, most of them are subscale. It is an emerging industry, with most of the companies following a basic model collaborating with leading hospitals given that 80-85 per cent of the growth in diagnostics is closely related to infrastructure development in hospital chains and insurance.” Mapmygenome for instance has tied up with over 38 hospitals pan India. Consumers can also purchase the products directly from company website or through their e-commerce partners such as or Amazon. The most basic test is a cognitive test for Rs 1500 that calculates your risk for depression while BRCA 1/2 gene sequencing for breast cancer comes at approximately Rs 20,000. They also offer molecular tests for TB and other infectious diseases which offer accurate results while being affordable. “Most of these tests use imported raw materials which makes them expensive, we are constantly striving to bring down the cost of the tests. For us the real barrier now is the cost of the kits that we import which can be eased if the government can reduce the import duty,” Acharya chips in.

For Igenomix, the increasing infertility rate worldwide and particularly in India, presents an opportunity to offer specific tests in close collaboration with IVF clinics to analyse an embryo at a molecular level, select those that do not have a single gene disorder or any aneuploidies and ensure that the baby being born is healthy.

20150415ep08Says Rodriguez, “According to WHO, approximately 60-80 million couples around the world are infertile. Having a population size of approximately 1.2 billion, the infertility rate in India is remarkably high. As a result, the need for IVF clinics increases. We entered the Indian market with an aim to offer a solution to patients undergoing IVF, having repeated implantation failures or miscarriages, for those who know they are carriers of single gene disorders or even those who are unsure if their child may be affected with a genetic disorder.” The company has so far analysed 1800 samples in India since its inception.

At Positive Bioscience, the most expensive test is for Rs 1 lakh (asseses healthy individuals for 1,000 diseases barring rare diseases) and cheapest at Rs 20,000. A test for a cancer patient costs Rs 60,000.

Commenting on the pricing Jain says, “Doctors in India need to be educated about the advantages of these tests, unlike their counterparts in the US, and once that happens we will be able to reach 10 times more patients. Sheer scale in terms of number of samples alongwith machines getting faster and cheaper could be a gamechanger.”

Jain emphasises that the quality of test will differ from company to company depending on the resources companies put into analysis and how they direct the customer to the right drug. “We have been accumulating and analysing data for the past two years, so anyone who starts now, will have missed the curve. In genomics, it depends on how good your analysis is. For eg. there are 300 mutations linked with heart disease or 100 with lung cancer. Our competitors might look at two or three of those mutations, we would go through the whole, that makes us more expensive,” he stresses.

Crystal balling

With health and wellness gaining ground, the proof lies in the pudding. Mapmygenome’s Genomepatri contributed 50 per cent to the company’s revenue last year and its Sugargene test also seems to be doing well. Acharya adds that the company which saw its growth more than double over last year is looking at crossing the million dollar mark next year when it comes to revenues. Igenomix too is planning to launch new reproductive genetic services, which will minimise the prevalence of genetic abnormalities in the Indian population and help high-risk couples achieve a healthy pregnancy. “We will be introducing a genetic test that screens the BRCA1 and BRCA2 genes via high­ throughput massive sequencing (also known as next generation sequencing or NGS) with the aim of locating mutations in either gene,” reveals Rodriguez.

However, it needs to be remembered that these tests are not 100 per cent accurate, a caveat that needs to be kept in mind. “The tests are not deterministic in nature, this needs to be understood. We haven’t done studies across the board for everything, we’ve tried to take the best possible data based on our statistical knowledge, sort out data that is not good. We are trying to make the best of the knowledge that we have. It is much better to understand the probability than become a statistic,” exhorts Acharya.


Jain is excited about exploring partnerships. “We are in talks with partners in Europe, America, the Middle East, Singapore tec. They can just give us the data and we can do the analysis and return the report online. They get best analysis for their patient. There is terrific growth in India and overseas as testing becomes more mainstream,” he adds.

There is definitely a potential given the fact that companies are tight lipped about sharing revenues as well as specific future plans, since these are still early days and they are trying to find the best path forward while also navigating through the roadblocks. That said, it will also take time to build awareness and scaleup to break even. Genomics is still new to India and while regulations are being formulated else where Indian regulators haven’t got their act together still. Whether that is an enabler or will regulations help streamline the emerging industry is a questions that remains to be answered given that newer ones are coming up. Most of the companies are concentrating on scaling up for now.

Unlike 23andMe which announced earlier this month that it’ll be now looking at manufacturing drugs, Indian companies are not looking at going down that path anytime in the future. Also, a good thing is that most of them stress the importance of having counsellors in place alongwith medical consultation to the patient, instead of going direct to consumer which has its pitfalls. It was one of the reasons why 23andMe faced USFDA’s ire last year. Personalised medicine seems to be taking baby steps and it remains to be seen how it’ll shape up in India, perhaps for the better.

[email protected]

Comments are closed.