dnaAs far as achievements go, this one is huge! Well maybe I am a bit biased towards progress in the life sciences vis-a-vis other fields. Be that as it may, even the severest critics will surely agree that this was probably the most quietly efficient achievements by our researchers. Two thirty-something researchers working with a team of researchers in Institute of Genomics and Integrative Biology (IGIB), Delhi, over a period of close to 2 years, have furnished us with India’s first-ever complete Human Genome Sequence. Using a miniscule 10 ml of blood, scientists mapped out 99% of the genome sequence of a healthy man, 55 years old and a resident of Jharkhand in Northern India. The reason he was chosen for this endeavour, was that though healthy, he was very close to the onset age of certain critical diseases.

The complete sequence is expected to be out in the next two weeks. The two young scientists leading this effort were Dr. S Sridhar and Dr. Vinod Scaria. While the actual sequencing took only an unbelievable 45 days, the setting up of all facilities including software and analysis systems took all of two years. I am all the more elated about this achievement because ironically, India was not a part of the global effort of the HGP (Human Genome Sequencing Project) a few years ago. In an eye-opening article in the Hindu, the ex-director of CCMB, Dr. Pushpa Bhargava, holds the apathy of India’s apex Biotechnology body, the Department of Biotechnology (DBT), solely responsible for what she calls India’s missed opportunity. Citing hard facts and numbers, she builds a case for how India could have played an active role in the sequencing process and today would have been reaping benefits not only in terms of  the prestige in the scientific community, but also in terms of financial gains by patenting STRs (Short Tandem repeats) in the genome. This is exactly what has been done by Celera Genomics, the company that won the sequencing race.

In the light of this shameful loss, the current achievement is a saving grace. I applaud the quiet, hard-working brains behind the project, who have given a ray of hope to young researchers across our country. India is now officially part of an elite group of countries with the resources to sequence entire genomes.

Now, why should there be such a song and dance over some genes being sequenced? The answer, the promise held within these genes. Have you ever wondered why the Crocin that works so well on your mom fails to have any effect whatsoever on your headaches? Well, while it is possible that you have a particularly vicious headache that refuses to respond to the tablet, it is equally possible that your genes make you non responsive to the drug in question. The remedy? Genome sequencing. If we can identify unique combinations of sequences, and connect them to diseases and possible cure, we can in future design drugs that are tailor-made for individuals. Or at least for specific gene sequences. One can imagine a scenario where you can walk into a pharmacy and say, “I have mutation FACQ2 (fictional gene) could you please suggest an analgesic?” whereupon, the chemist will delve into a shelf labelled FAQC2 and dig out just the right meds for you. Now that is something to be fervently wished for. Considering that a large proportion of Medicines are not really all that effective on everyone who takes them, a tailor-made medicine seems just what the doctor ordered. Does this sound like Sci-Fi? Well it may be as of now, but geneticists believe that decoding information from the human genome might take us a step further along the path of what is known as “predictive or preventive medicine”. The information from our genes will help to predict possible susceptibility to diseases and will enhance preventive measures for healthcare. For example, a person found to be predisposed to obesity, could be then encouraged to adopt healthier life-styles and to eat the right kind of food. Researchers are heralding it as the major paradigm shift in healthcare from the current method of diagnosis and treatment to preventive medicine. The putative benefits are huge.

Speaking of sequencing, there is another initiative that one must know about, also in the Indian context. This one is known as the Indian Genome Variation initiative is a network program initiated in 2003 and tenured for 5 years, by six constituent laboratories of the Council of Scientific and Industrial Research (CSIR), with funding from the Government of India. This study aims to discover important variations in biomedically important genes, construct Haplotype maps of large multigeneration families and subsequently, to connect these maps with disease association studies and pharmacogenetics.  This initiative has mapped around 75 representative gene sets from about 1871 genomes belonging to richly diverse sets of populations spanning different castes, tribes, communities and ethnicities in India. Around 55 different populations have been studied as of now. Though this is but the tip of the iceberg (we have 28000 endogamous populations), the scientists involved say that the data-set has been chosen as a representative of about one fourth of India’s population.

Spearheaded by the same organization, namely the Institute of Genomics and Integrative Biology, this is one of the most comprehensive diversity studies in the world. This initiative can take predictive medicine several steps further. We might be able to figure out susceptibilities or resistance to disorders that might be specific to particular community or sets of populations. Thus we will be able to come up with more precise diagnostic as well as preventive measures.

Another perspective is from the point of view of clinical trials. Since today we are not in a position to positively connect a number of diseases to their genetic roots, pharmaceutical drugs can be sold easily to all sections of people. There might come a time when drug companies will have to specifically design drugs for different populations and this will definitely make space for more innovative companies and greater amount of research into this area.

Of course the legal and ethical questions abound in such areas of research. They deserve proper consideration and so I will follow this article with another one dedicated only to these questions. The very fact that scientists working on the variation initiative have not revealed data pertaining to what they deem sensitive data about susceptibilities of certain populations to specific diseases.  Their caution is understandable. Such scientifically backed data might create a situation where a particular community gets blamed for “carrying diseased genes” and the social stigma will be unbearable. Similar concerns are being expressed by researchers around the world. People envisage a future where a person may be denied a job or insurance cover based on his/her genes. As I said the questions are endless and I will come back to them in another article.

As far as India is concerned, I am happy and proud that our scientific community is performing so well in the face of so many odds. I sincerely hope that lackadaisical and corrupt government bodies and rampant internal politics in almost all our big organizations will no longer fetter our progress. I hope that this news heralds not only appreciation for the sound science behind it but also brings about a realization in all persons of power that we are a land of potential. Let us allow our brilliant light to shine and focus on solving important global problems of health and agriculture. Let us contribute to the building of a sound, just and ethical scientific system. As long as we have our Sridhars and our Scarias, I think the sky is the limit for us. Kudos to all our researchers!!!