Phil,

First off thanks for reading and responding! I am always happy when somebody engages with something I have written, especially when they take issue with it. Let me respond first in general then in more detail to specific points you make.

My intent overall was not to downplay the importance of genomics but rather to emphasize that it’s importance has been much overhyped relative to the importance of environmental and behavioral factors. Contrary to what you write I do not believe that there is a myth that genetic diseases are insignificant. In fact I see it as quite the contrary, the myth is that genetic factors are the primary causes of most or even all disease and by focusing on gene sequence data we will be able to diagnose and/or find cures for them.

Now to the specific points..You write….”your assertion that a “tiny minority” of 0.1% of the population benefitting from genomes is not correct. It’s more like 7%, a not insignificant proportion that will only increase with time.” You may be correct, though I have not seen the data, that 7% of the population suffer from inherited genetic disorders (disorders and diseases are different but I won’t confuse the issue and will take them to be the same thing for purposes of this discussion), however that does not mean that those 7% benefited in any way from genomics research. Many/most inherited genetic disordered were recognized as such prior to the advent of modern gene sequencing techniques and elucidating the specific genes responsible has only led to treatments in a tiny minority of cases (this is the 0.1% number I am referring too).

You also write “We currently don’t know what ~98% of the genome does so I feel your assertion that providing more datasets will not yield befit is disingenuous to say the least.” I did not suggest that additional sequencing would not yield benefits, only that those benefits will be minimal relative to the effort and expense required, and that they will certainly be much less than the current hype surrounding such efforts would lead you to believe. My belief is that the time and money would be much better spent on expanding our understanding of environmental and lifestyle factors that are the much bigger contributors to disease in a much larger percentage of cases. Of course, this work is much more difficult, less clear cut, and less sexy, and thus it gets much less discussion and investment. More importantly it often requires a change in behavior which is something most people are unwilling or unable to do. Getting your genes sequenced is easy, quitting smoking is very, very hard.

Finally you write.. “Providing more genomes for analysis from different ethnicities, human tissue types and ages will help with this endeavour. New DNA sequencing technologies like single molecule sequencing can fill gaps which are currently missing. And providing additional transcriptomic, proteomic and phenotypic data sets will likely reveal a much more significant impact of the genome on human traits than ever before.” Sure, it might and I may even be willing to go so far as to say it will, however, I am certain it will not provide more benefit than would be provided if all of the effort in time and money invested is these efforts were instead directed to gaining a better understanding of environmental and behavioral factors of disease. Of course it is not an either/or and hopefully we have the resources to do both but unfortunately the hype surrounding genomics has tilted the scale so far in favor of the genomics approach that other work is being short changed.

As I said in my original post I think the evidence is clear that environmental and behavioral factors play a much, much larger role in disease than genetic ones and yet in terms of time and money spent they see the much smaller investment. Articles like the one I was responding too which overhype the benefits of genomics are exacerbating that problem, and I will continue to take them to task for it until that changes.

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Research scientist (Ph.D. micro/mol biology), Thought middle manager, Everyday junglist, Selecta (Ret.), Boulderer, Cat lover, Fish hater

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