Genetics of Brain Disorders

Medicine is moving at the speed of light.  And that’s a good thing.  We have a long road ahead of us to move out of the pre-scientific eras, where no one required an evidence base to do most anything.  And we face an even longer road to shed the paternalistic roots of “doctor knows best” (not to mention parent blaming for brain disorders!).  But perhaps the longest road of all is the road that is now leading us to real “individualized” or “personalized” medicine.

Actually, I prefer the term “personalized medicine” because it says the same thing as “individualized medicine”, without forgetting that we are persons.  And as persons, we are psyche and soma: spirit and flesh, so to speak, even where “spirit” may be closer to “neural connections” than to “ghost”. We have thoughts and feelings which, even if all thoughts have a neural basis in our physical brain, are as important—or more important—than our hemoglobin, our cholesterol profile or our IQ.

Genetic testing—the scientific core of personalized medicine—offers us the hope of tailoring medical recommendations to our own biology.  Am I someone who should avoid salt? Am I someone who will have cardiac complications with non-steroidal anti-inflammatory medication?  Can I/should I take Prozac? Do I need a yearly mammogram?

I am blogging about genetic testing again as I think this is going to evolve rapidly from something used in only a few forward leaning practices to something being used in everyone’s practice, and sooner than you think.  And, really, how could it not?  I am certainly not going to allow myself to be prescribed any medication for which there is known, evidence-based, testing regarding efficacy and safety for people who carry the gene mix I do.  I want testing based on my genetic make-up, not pooled evidence from 10,000 of my closest middle-aged +, Caucasian, female, cohort-mates.

I think, however, as we examine which variations each of us carries in regards to the metabolism of psychotropic (brain-affecting) medications, we may learn more than we bargained for.

For example, I come from an Irish American family.  Alcoholism runs notoriously in families of Irish descent, just as it seems to run in Native American families.  I have spent lots of time thinking about this issue (familial alcoholism) as it affects many of those whom I love, actually or just potentially.  As a young person I observed that my father’s generation on his own father’s side (the Irish side) were about half severely affected and the rest moderately to mildly affected.  There appears to have been a “wash-out” effect in subsequent generations as “outbreeding” diluted the original gene pool, even though there are still affected family members: about ¼ severely, ¼ not at all and ½ mildly.  It was clear to me as a child that “who received the alcoholism gene(s)” was not dependent on “who was a good person”.  Even though, notoriously, alcohol abuse will ultimately destroy a person’s relationships, ability to work, brain functioning and health, the people who are affected are still wonderful people.  My favorite uncle was so affected. And although his wife stood by him in his illness and he eventually became sober, it was far too late to prevent the tale of woe that had dominated the lives of my cousins.

I guess what I am trying to say is that I suspect we will find out – have reinforced – the fact that alcoholism and drug abuse are brain disorders and disorders of metabolic processing of substances, not the character flaws they appear to be.

When I looked at the results of a young man whose heritage was half Lakota/Sioux and whose parents’ lives (both of them) had been destroyed by opiate and meth abuse in one and alcohol abuse in the other, and I listened to the young man himself tell me how he had struggled to come off of every psychotropic medication he had ever been prescribed, and experienced little help from them and then I saw the results of his gene testing which predicted this very thing; I was awestruck.

We are standing on the verge of something very big, folks. And in many ways, it’s high time.