“Pharmacogenomics” is the term applied to the genetic typing — usually from a simple swab of your buccal mucosa — of individuals for their reaction to and processing of drugs.  This started with the occasional gene test for unusual drugs that were plain dangerous and has not been broadened to most classes of drugs as well as individual members of each class…

Now a test that costs less than $250 can tell an individual exactly what pain med, antibiotic, antidepressant, etc, will work or not work, how to dose it, and how to avoid adverse effects and interactions.  Official academic efforts are exploding with the availability of such testing in places like this.  I like to say that it is like being a British naval officer in the early part of WWII when they were dependent on binoculars for spotting U boat periscopes.  Then they got radar and sonar.  New ball game.

So in our own clinic, where we have been doing gene testing for various common conditions since 2004, we have now been doing this testing (aka, “PGX”) for the past 2 months.  The benefits are clear.  One finds antidepressants that patients should never be on, sleep meds that are rapidly metabolized such that people cannot benefit for the full night, antibiotics that require stronger dosing and/or shorter dosing intervals in order to be effective, and the list goes on.

But what do you think we found when we requested coverage for the test from the likes of Health Partners< Medica, et al?  Right.  Denied.  Unnecessary.  Despite the fact that their patients wind up in our office because their own system has been of little help.  They have your money (premiums), and you are simply going to have to beg for it back in the form of useful care.  But I digress.

The National Institute of Health has now offered some help to the public in understanding the field:

Many drugs that are currently available are “one size fits all,” but they don’t work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions). Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. With the knowledge gained from the Human Genome Project, researchers are learning how inherited differences in genes affect the body’s response to medications. These genetic differences will be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.

The field of pharmacogenomics is still in its infancy. Its use is currently quite limited, but new approaches are under study in clinical trials. In the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease, Alzheimer disease, cancer, HIV/AIDS, and asthma.

But the one inaccuracy here is that this is not a field that is “in its infancy”.  It has become — at least on a basic level — a robust laboratory discipline available to most patients if only their 3rd party systems might consider allowing their physicians to engage the new found wisdom.  But this require time — often labor intensive patient contact time.  Hmm.

Complex cases are constantly riddled with polypharmacy — the tendency to add a drug when one is clueless as to what should be done.  This is particularly common when patient complaints center around issue such as fatigue, weakness, mood, sleep, non specific pain, etc.  When a simple test or film does not establish a quickie diagnosis, the quickest way to end the visit is to refer to someone else or get out the prescription pad so “we can try this for a few weeks”.   Well, those days, thankfully, will some day be behind us as we are permitted to look at exactly what we are prescribing with some pinpoint accuracy.  The other major sunshine is the dawn of the era of functional medicine…but we will leave that discussion for some day soon.

4 Comments on The coming standard of pharmacogenomics…but will your local ACO approve?

  1. So true, and so glad you tested my son. How I wish the test had been done before so much misery and pain was inflicted with no care from the neurologist, or psychiatrist.

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