$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.

Personalized Medicine – Ethics Vs Need

In this era of modern genomic tools, it is getting pretty much apparent that we are closing in on a scenario where in the genome of an individual can be sequenced in a matter of few hours. Question 1)– What do we intend to do with it? Question 2)- Sequencing is just one part of the puzzle but do we actually understand the finer details? Now, assuming that the bioinformatics hurdles are taken care of, then with the important data in hand how do we proceed? How much do we disclose to the patients? How much should the physicians or relatives know? Well, in other words it is the ethics versus need debate. Recent article in American medical news throws some light on this (http://www.ama-assn.org/amednews/2012/04/02/hll20402.htm)

Step towards personalized medicine is not only about the hardware/software part of it but also it is about proper training at physician, geneticists and lab scientists’ level. First is to have a meaningful understanding of the data which can be made ‘easy to understand’ for the care giver (physicians). Then comes the question of what sort of data should be discussed with the patient and their relatives. This is a tricky scenario as unless we as scientific community is absolutely clear of the data and the predisposition risks therefore, I guess it would not be good idea to share such info with patients as they would be upset and would get scared. 

There is a section in the community that believes that family history of the patients should be looked into and only diseases which a patient is predisposed to should be looked into in detail. I would presume it is a thought in the right direction; however, it defeats the whole purpose of whole genome sequencing. Also, as our genome stores a treasure trove of data, it is important to know what else we are predisposed to apart from what our family history suggests! Another ethical issue which might crop up in the near future is that people may want to see the ‘genome map’ of a prospective partner before marriage to avoid getting genetic diseases in the offspring. Now, this might be good but it might lead to all sort of complications and less randomization of the gene pool!!!

Finally, if the people are made more aware, whole genome sequencing, in the future would let us take preventive measures knowing what is in store for us (not astrologically but genetically) and be better prepared for any eventuality.