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"I've got a version of the ACTN3 gene that's found more often in Olympic sprinters than people who run the Boston Marathon." A joke? No, her deadpan voice was absolutely serious. Recently, Das had her DNA sequenced, which involves determining the order of the constituents of her DNA, by US-based personal genomics company 23andMe. She paid $400 for the report that details her chances of contracting Parkinson's disease or breast cancer. It also tells her if she is likely to have a flushed face after a glass of wine.
Are you tempted to get a similar inexplicable characteristic analysed? Thankfully, you no longer need to mail your spit (which contains the DNA extract) to the US for a report. In a few months, Acton Biotech, a Pune-based start-up, is set to launch India's first commercial genome scanning service for Rs 20,000, almost the same price that Das paid for decoding her DNA.
Acton is a pioneer in the field of medical genetics; the science that uses a patient's genetic profile to determine the drugs most effective to treat a particular disease. The consumer genetics market is the next level for the company. There are other genetic sequencing firms in India but they are not interested in offering the service now. This trend is entering India late.
As early as 2003, the first human genome was sequenced by a publicly funded team at the US National Institutes of Health in a tie-up with Celera Genomics, a private company. With the complete genetic sequence of a human in hand, scientists have since probed the genome for DNA variants that could be associated with specific diseases or traits. Genomic data has also been used to study questions such as tracing human ancestry, patterns of migration, etc.
Further experiments led to the discovery of the "God gene", the "gay gene", the "intelligence gene" and more. Though not all these discoveries are backed by solid scientific evidence, more gene variants linked to diseases have now been identified. One of the best-known examples is the link between the BRCA1 gene and a predisposition to breast cancer.
In 2007, these cutting-edge discoveries led to the launch of the world's first batch of personal genomics companies: Navigenics, deCODEme and the Google-funded 23andMe. For prices ranging from that of an iPad to a first-class airline ticket, people across the world can get information about their DNA variants. It is now possible to map Rs 6-10 lakh locations across the genome to a particular physical characteristic or disease risk. All you need to do is provide a DNA sample, usually by spitting into a test tube and mailing it to the company of your choice.
In this age of Twitter and Facebook, people across the world want to learn as much about themselves as possible and share that knowledge with the world. Indians are no different. To begin with, Saxena's ideal client is "the guy who doesn't mind spending Rs 50,000 on a five-star dinner." He hopes that with increasing automation, Acton will be able to bring down the price significantly and scan all 20,000 known genes for the same price, Rs 1 a gene. "Consumer genetics in India will soon be a multi-billion-dollar business," Saxena claims.
The idea sounds ambitious, especially for a technology that is just making its debut in India. But Saxena argues that initially, internet access and mobile telephony were also considered to be the privilege of an elite few. He believes that the push to integrate genetics into the medical landscape will come from individuals, not medical establishments. This echoes the manifesto of the Personal Genome Project, the power to understand your genome lies in your own hands.
Under the project, a thousand volunteers have signed up to have their genomes sequenced and shared publicly in the hope of accelerating the pace of genomics research, a Wikipedia for our genes, if you will. Among the pioneers of this project is one of the inventors of DNA sequencing technology, George Church, and the famed psychologist and author, Steven Pinker.
Admittedly, not all the results from DNA sequence have an immediate impact. They continue to be, to some extent, an investment in the future. The Human Genome project, one of the world's largest investigative science project that aims to identify and map approximately 20,000-25,000 genes of the human genome, has met with limited success. Much of our DNA remains largely unexplored.
For instance, of more than 20,000 genes identified so far, less than 2% actually encode a protein product. The remainder may play a more regulatory role, but their exact function remains to be determined. At present, for an additional fee, consumer genetics companies abroad keep updating a customer's profile as new scientific information is validated. You may have to wait for some years for more benefits to accrue. But the results should be worth the wait.
What can genes tell you?
Consumer genetic firms read your genes and help forecast ailments you are likely to contract or possible changes in your behaviour. Armed with such information, your doctor can help you ward off ailments or you can alter your lifestyle to stay fit. You can also end up getting a fair idea of the way you are. Some of the risks/traits they can predict/analyse include:
- Breast cancer
- Parkinson's disease
- Athletic skills
- Addictive behaviour
Get it read overseas: Indians can also access the services of foreign consumer genetic firms.
23andMe, New York: Services are available for $199 with a one-year subscription for updates at $9/month.
Navigenics, Foster City, California: Services available at $999 and in 2009 a very basic version of the test scanning only 10 diseases was offered for $499. As of now, tests cannot be ordered directly but must be routed through a physician.
deCODEme, Reykjavik, Iceland: For $2,000, scans up to a million genetic variants for calculating disease risk and ancestry (filed for Chapter 11 bankruptcy in 2009)
US-based companies like Knome, Complete Genomics and Illumina also offer whole genome scans for over $30,000 at present, but the technology underlying this process is evolving rapidly. While these technologies are not yet commercially widespread, they make it possible to scan an entire genome for $10,000 and the price may drop below the $5,000 mark very soon.