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Personal Genomics- Year 2017

Personal Genomics- Year 2017

The conversation around personal genomics amplified in 2016, as did the range of diagnostic options

This may have been the year personal genomics came of age in India. While tests to check for mutations that make one more vulnerable to breast cancer have been available in India since 2010, companies this year have expanded the repertoire.

A growing market

It is possible to request online a test that can tell you your propensity to diabetes, autism spondylitis and coronary heart disease. GenomePatri, a product marketed by Hyderabad-based Mapmygenome, offers a peep into a 100-odd underlying conditions. MedGenome in Bengaluru, another company that offers diagnostic services, this year purchased a high-end gene sequencer — a device that can read the unique sequence of DNA of individuals and the only one of its kind in Southeast Asia — for $12 million. Strand Life Sciences, also a Bengaluru-based company, developed a 152-gene test that will be made available to physicians across India for profiling tumours.

Based on one’s genetic make-up, the tests can also provide information on global clinical drug trials and advise on the efficacy or toxicity of chemotherapy and/or radiotherapy as an additional service to physicians and patients.

The bulk of genome testing services however still require that patients scan their genes only after being recommended by a doctor. Moreover, in spite of the number of people taking these tests increasing almost a hundred-fold over last year, it still hasn’t reached the so-called tipping point. “We are very far from it,” says Vijay Chandru, chairman, Strand Life Sciences, “there may be about seven-eight companies doing about 5,000-10,000 tests each annually.”

Unlike several countries such as the U.S., Qatar, the U.K. that have announced plans to undertake large projects to map genomes, the Indian government doesn’t yet have any major initiative. There are also very few studies on the kind of genetic variants, unique to Indians, that may make them respond differently to certain drugs or make them more vulnerable to certain diseases. “We recently found that women from the Marwari community were similar to Ashkenazi Jews in their response to breast cancer,” says Dr. Chandru, “we need more analysis of this sort.”

 Database the key

Vinod Scaria and his colleague Sridhar Sivasubbu at the Delhi-based CSIR-Institute of Genomics and Integrative Biology have over the years organised a network of doctors across the country — called GUaRDIAN — to help map individuals and families afflicted with rare diseases that may have a strong genetic component. The idea is that over time new genes or variations of known genes are discovered that will be useful to design better drugs or sometimes use known drugs in new ways. A doctor from Pune, for instance, got in touch with the GUaRDIAN team to report a child with skin akin to fish-like scales. Dr. Sivasubbu relates another case, of a healthy couple discovering that both their children suffered from a genetic condition so rare that it afflicts 1 in 2,00,000 people. Two things happened. One, the couple could determine if a baby they plan for in future will carry the gene for the disease. Two, they were suggested a treatment — usually used in cancer — to treat their two children.

The conversation around personal genomics has certainly amplified but without several more databases to capture India’s unique genomic peculiarities, an online test may be little more than a sophisticated gimmick for now.

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