
The Paradox of Precision Medicine - jonbaer
http://www.scientificamerican.com/article/the-paradox-of-precision-medicine/
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dekhn
When I was in grad school (Biophysics) I mentioned to somebody that I thought
that sequencing the human genome would lead to huge medical discoveries
quickly. They asked, "why?" and I was unable to provide a good response. They
were right: the premise that sequencing the human genome would lead
immediately to recognizable, huge improvements that impacted a lot of people
in a positive way, was simple a false premise.

Now, sequencing the human genome was tremendously useful as a reference
dataset for further research. But it was no panacea. Basically, what we've
learned (and this shouldn't be too surprising to people who studied biology
from the perspective of molecular biology, rather than genetics), is that the
mapping between genotype and phenotype, in humans, is tremendously more
complex than the simple stories told in genetics class.

$30K treatments for rare diseases may be heartwarming but the implications for
the costs of healthcare are dire.

I don't think it's impossible to believe that in the future we will get
significantly better at classifying diseases and coming up with solutions, but
we need more fundamental research into the genomic etiology of disease, in
addition to drastic changes to the clinical trial process, if we want to
simultaneously meet the goals of having a huge positive impact and keeping the
costs affordable.

