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!!!
Aren't we getting ahead of ourselves here. There should be a greater emphasis on the word predisposition. There is such a huge level of variation because of penetrance and what not. I am not sure if we are close to taking a call only based on the genomic sequences.
ReplyDeleteYou are correct.........quicker and accurate sequencing is just a part of the puzzle solved but it is the bioinformatics that is going to take us to the next level of 'understanding the genome'
DeleteWe do not know even the function of our 2% genome (i.e. mRNA and corresponding proteins) and we are talking about the personalised genome sequencing and medicine. I think it is too early to talk about such things. Scientific community need to put much more effort to understand our genome in original context before we talk about personalised medicine. I do not mean that we should not proceed in cases where we have enough reliable data to predict the outcome but we need to be very careful.
ReplyDeleteI guess, we are in a better scenario as far as understanding the genome is concerned as compared to a decade back. And part of this optimism stems from the fact that we have now advanced sequencing tools (whole genome seq, exome seq, targeted reseq etc.)Ans since, the seq is getting affordable, a lot many 'subjects' can be screened to 'understand' and analyze the genome. However, having said that, I must say seq is just part of the puzzle, we need to build strong bio-IT tools to understand and interpret what the sequencing data churns out!
ReplyDeleteThough whole genome sequencing, helps to predetermine the possibilities of genetic inheritance, one is not sure of the probability of acquiring the disease/ traits. With advent of new technologies, though the cost of whole genome sequencing drastically reduces, it may mean nothing for a general public knowing their ATGC profile and how practical it is?
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