Why predicting the phenotypic effect of mutations is hard

genomesunzipped.org

“…the lack of predictability in genomic medicine is rather sobering. For certain genes and diseases, we can or will be able to make accurate and clinically useful predictions; but for many, we can’t and won’t.”

Caroline Wright lays out six reasons for the difficulties in genomic prediction. They’re all pretty obvious to me but the last reason may be a bit of a surprise.

Scientists Cure Diabetes With Gene Therapy In Dogs – Will It Work On Humans?

singularityhub.com

Scientists have now cured diabetes – at least in a group of dogs – and they used a gene therapy to do it. Amazingly, only a single therapy session was needed to return the dogs’ blood sugar levels to normal. It wasn’t the first time the researchers used the therapy to cure diabetes – they’d done the same previously in a group of mice. But the fact that the treatment worked in the larger canine is a promising sign that it might also one day work in those even much larger animals: humans.

“If you do genomes now, they are on the order of $10,000 to $20,000. By this time next year, we’ll be doing them internally -- meaning within the companies that are developing the technologies -- for less than $1,000. The price is dropping faster than Moore's Law because we are building on 40 years of technology and catching up quickly. So by 2013, it will be less than $1,000. One thousand dollars has been a magic number in the developed world because in the United States we spend $6,000 per person per year on health care. So you can image that if someone is going into a newborn intensive care unit, a $1,000 expense looks pretty attractive because it might save $50,000 in healthcare costs in a week's time. And it will keep on getting cheaper. I can predict that within a decade, it will be as cheap as that heel prick. A heel prick and all of the related biochemistry costs about $10.”

Jonathan Rothberg (PopTech 2011) on how much it costs to sequence a genome today. 
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