Imagine having your complete genome. You wonder what the most effective pain med for you might be based on your genotype. Your aunt is into genetic genealogy and wants to know your mitochondrial haplogroup. Your spouse and you are thinking about kids. He or she has a family history of cystic fibrosis and you are wondering if you might be a carrier.
I’ve had my genome sequenced and I’ve done a fair bit of this kind of self-exploration. Sometimes what I’m after is easily found. But usually it’s not. Direct-to-consumer genetics companies have mined the genome for information that corresponds to what’s on the SNP chips they type. SNPedia has enlisted the help of the broader community and has annotated thousands of genotypes based on what can be found in the literature. But that’s still only a tiny fraction of the human genome.
Now picture having all of this on your phone or your iPad:
…you could imagine going to your pharmacist and they could just very quickly screen that the medication you’re getting, and potentially the dosing that you’re getting, is consistent [with] your pharmacogenomic markers. So one classic one is Plavix. ‘Do you respond to Plavix or not?‘ These are the kinds of [questions] I think that are practical, that are probably within the knowledgebases that we have, and that would involve the pharmacist or the physician to interpret.
Would your doctor embrace this scenario? Mine would, but I suspect that she is exceptional.