The Promise of Genomics

Perusing Ask Metafilter recently, I ran across this question which asks, in part_

What field(s) of medicine is/are most likely to benefit from new genetic technology? What with the decreasing price of genome/transcriptome sequencing and microarrays, it seems pretty likely that genomic medicine will be a big part of the future. But I assume that some specialties are more likely to utilize new technology and findings than others. Any thoughts as to who's more likely to integrate new stuff into their practice?

As someone in the middle of this wonderful and wacky revolution in biology and medicine, I weighed in a few of my thoughts. After cleaning it up a little, I'm reposting it here_

The big problem right now is that even if we can identify genomic disorders, we don't have treatments for most of them yet. So, naturally, the first impact will be a better list of potential drug targets, so that we can get to work on designing drugs.

Next will come genetic screening, which will allow parents to know if they're carriers for specific diseases at not. If they are, then they'll have the option to move on to embryonic and/or pre-natal screening. I think you'll see shifting attitudes about carrying babies to term that have untreatable health problems. Society will begin to have less sympathy for parents that choose to bear children with Huntington's disease or Down's syndrome, when they could have avoided the problem all together.

We'll also see better targeted treatments, and this is an across-the-board kind of advance. Cancer-related fields will probably be among the first to reap benefits. There are already some clinics using tumor profiling to choose the best treatment_ using trastuzumab to treat breast tumors that overexpress Her2, for example. You'll see many more cases like this.

Later, you'll see genetic profiling being applied to more everyday drugs, like statins for lowering cholesterol. A few years back, a drug called BiDil was approved for use only in African-americans. Soon we'll be able to go beyond simple racial stratification, and identify the specific genomic variants that govern response to specific drugs. Then you can choose the right drug for the right person.

Hell, this is even going to affect things like anesthesia. We already know that different people require different doses because they metabolize the drugs at different rates. There may very well be SNPs that predict dosage response to Propofol that can take much of the guesswork out of putting someone under.

So yes, you're right that the next 10-20 years will be transformatory. You're going to see most of this stuff introduced in the University hospitals first, as part of academic clinical trials, and then they'll slowly trickle out into general practice. One of the major hurdles is going to be educating doctors, and designing intelligent software systems that can feed doctors the right information.


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