$1000 genome,$1 M interpretation theme – fact or fiction?

Everyone agrees that sequencing the whole human genome, which was a bottleneck a decade back, is no longer the “rate limiting” step in our endeavor to realize the ultimate goal of ‘personalized medicine’. The main hurdle to achieve the true potential of our genome is to unlock the secret by powerful analysis tools. In other words, the next decade may well be the decade of bioinformatics/bio-IT. Having said that, there is a school of thought that paints an alarming scenario. It envisions that genome interpretation would be very costly and might take the possibility of personalized medicine a bit farther from reality. However, skeptics argue that this is an alarmist viewpoint and this might not be the reality.

The truth, according to me, lies somewhere in between. Yes, there is a huge potential and a gap in  understanding of the genome. In the last few months, dozen start-ups have come up that are looking to exploit this space. So, venture capitalists need to be assured that their investment is in the right domain and would reap benefits in the long run. So, part of this $1M interpretation theme might come from analyzing the future of Bio-IT space. At the same time, a lot of the processes might get automated and streamlined, hence the true figure might come to a much more manageable level. Like any industry, many of the start-ups would fold up if their software do not come to the real expectation of the key stake holders, and I mean not only the bio-IT folks but physicians, geneticists, care givers and ultimately the patients.

Also there is another point that I would like to make – for proper analysis and interpretation, we need proper data, now since the genome sequencing cost is coming down, many clinical trials or even basic research can enroll a high number of subjects. This would ultimately help fine tune the analytical ability of the software to predict diseases or treatment outcomes in a more professional and authoritative way. This would lead to less cluttering of the Bio-IT space with better and authentic Bio-IT tools.

Ultimately, the “final frontier” of personalized medicine is not only about the hardware and the software  looking for answers in isolation but a conjoined effort to understand the human genome.