It’s your DNA after all

Sreekanth Ravindran | 10-March-April-2013

DNA sequencing and genome research is the future of medicine as it can rectify health issues at the individual level by using a patient’s genetic information. However, like any other scientific inventions, genomic medicine also has a negative side, mainly handling of personal genetic information

By SreekanthRavindran

One of the headline making international acquisition stories in 2012 was that of a Chinese DNA sequencing firm (BGI-Shenzhen) taking over an American DNA sequencing firm (Complete Genomics).Worry not!This is not a business story about acquisition. This deal could offer us a delicious menu for thought. At present, the Chinese are more or less like yesteryear Jews. They are very careful with their investments and have placed their hands on everything that sounds very much promising and futuristic, be it renewable energy, biotechnology or cloud computing. And this deal easily translates the Chinese confidence in the future of DNA sequencing and genome research.Experts in the area concur with the Chinese decision. Almost all speak without any ambiguity or diffidence, “Yes, the future lies in genome.”

Efforts are on, especially in the developed world, to enhance their healthcare by integrating genomic medicine into the mainstream medical practice. On finding success, this effect can easily trickle down to the healthcare scenario of emerging and underdeveloped countries as well.  What is this phenomenon of genomic medicine and what could be its possible implications on medicine?Genomic medicine is the most intense method ever invented in the medical history to rectify health issues at the individual level by using a patient’s genetic information.After identifying the genetic factors associated with the disease, experts say that it is much easier and possible to prescribe more effective treatments. It also helps in identifying and monitoring individuals who are at high risk of a particular disease or a few diseases. Doctors can also avoid adverse drug reactions if the genetic information is known prior to the treatment.

For instance, an individual X gets his genome sequenced to check in order to analyse whether he is predisposed to heart diseases. Suppose the analysis finds that X has three alleles predisposing him to an increased risk of heart disease at a young age. An allele is an alternative form of a gene (one member of a pair) that is located at a specific position on a specific chromosome. He can be put on a drug called Relaxin, a drug designed to reduce the risk of a heart attack in people who have similar genetic profiles. This directly increases his longevity.

Today, the buzzword in the area of oncology is Cancer Genomics Research (CGR). A growing area of research, CGR compares genes found in tumours and genes found in healthy tissues in order to make out how the genes differ from each other. For this,researchers collect samples from all kinds of tumours to find out a tumour’s genetic “fingerprint” and then compare it to the fingerprints of healthy tissues from the same person. Different genes are involved in various tumours, and understanding what genes are important to the development of cancer could directly lead to improvements in detecting, diagnosing, and treating cancer.

Development in DNA sequencing technologies has also positively contributed towards genome research. American innovator Dr Jonathan Rothberg’s Ion Personal Genome Machine (PGM) is an important step in this progress. The machine, which is only 24 inches wide, 20-inch deep and 21-inch high, can read about 10 million letters of genetic code in two hours, that too with high degree of accuracy. The Ion PGM is now the fastest-selling sequencer in the world. In July, 2012, Ion Torrent (Dr Rothberg’s company) had entered the Genomic X PRIZE competition with a new sequencer, the Ion Proton that is designed to sequence the human genome in a day for under $1,000. In an exclusive interview with Future Medicinefor its October edition cover story, he had said: “For the same reasons that desktop computer eventually replaced minicomputers and mainframes, semiconductor sequencing is an ideal solution for any biomedical research-based application; the combination of affordability, simplicity, scalability and performance brings an unparalleled advantage compared to other market alternatives. Due to the scalability inherent in semiconductor devices, my technology is breaking the $1,000 genome barrier and further fuelling the uptake of sequencing in healthcare, agriculture, and the direct-to-consumer markets.”

Another area of rapid development is Pharmacogenomics. This discipline, which combines pharmacology and genomics studies, shows how genes affect a person’s response to drugs. This is an important milestone in attaining the objective of personalised medicine. In future, genomic researchers will be able to develop safe, effective and required doses of medicine according to an individual’s genetic makeup.

However, these developments are not free from concerns. Handling personal genetic information should be strictly regulated, failing to do so can invite dire consequences. There are also social and ethical issues involved as well. Will insurance companies start demanding genetic information before insuring a customer? Should all patients be forced to undergo genetic test? What if pharma companies decline manufacturing drugs that are only required for a small segment of the population?

These issues demand debates involving policy makers, researches and social representatives. Like two sides of a coin, every development also has its own negative impact on the mankind as well. Consensus is the future forward.

Although the West and a few Asian countries, including China, have made great strides in the field of genomics, needless to observe that India is far lagging behind in this area. Though there are standalone researches like Centre for Molecular Biology, Hyderabad, and a few other institutes do support researches and a few innovators like Sam Santhosh, founder of SciGenom, a successful Information Technology entrepreneur, who had quit the lucrative IT business to kick start his genome company based in Kochi, significant advances in this area will only occur if our policy makers effectively promote this research. To quote Malcom X, late American civil rights activist, “The future belongs to those who prepare for it today.”

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