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Matthew J. Edlund M.D.


Psychiatric Diagnosis Is Difficult, and So Is Treatment

The genetics of psychiatric diagnosis is complex.

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Who said psychiatric diagnosis is easy?
Source: pixabay at pexels. com


Heard of the Brainstorm Consortium? A worldwide group of dozens of researchers is trying to understand diagnosis from the bottom up, starting with your genes.

In a recent paper in Science, the group looked at 25 “brain associated” disorder, ten of them psychiatric, fifteen neurologic. They sorted them through GWAS—genome wide association studies, which look at minimal genetic variations, generally of the single nucleotide pair type. Nearly 1.2 million people had their genomes sequenced. Much of what was found found fit clinical suspicions of many years standing; some did not. All the results pointed towards the complexity of psychiatric diagnosis.

What the Study Found

The original Human Genome Project expected to find the “schizophrenia gene” or the “major heart attack genes.” Nothing of the sort occurred. Instead, researchers discovered tens of thousands of genetic variants that increased propensity to major illnesses by small fractions. Fortunately, GWAS can look fairly effectively at how things sort–what is genetically connected to what. Here are some of the Brainstorm Consortium's major findings:

  1. Psychiatric illnesses are associated like crazy with each other. Depression and its genetic components are correlated with schizophrenia, bipolar disorder, ADHD, Tourette’s –all the other psychiatric diagnoses. Schizophrenia to a fair degree shows major genetic connections across diagnoses. Neurologic conditions like stroke, Alzheimer’s, Parkinson’s and epilepsy by contrast siloed out, each separate in their own form. Only migraines, which clustered with ADHD, Tourette’s and major depression, was the neurologic outlier.
  2. Neuroticism correlated with virtually every psychiatric disorder, as well as migraines. If someone has a psychiatric diagnosis, there are profound effects on personality.
  3. Education and going to college correlated positively with psychiatric diagnoses like bipolar disorder and anorexia, while stroke and Alzheimer’s were related to less educational attainment.

The Nature of Psychiatric Diagnosis.

It’s been known for a long time that psychiatric diagnoses overlap. People looking at brain imaging studies found the same circuits engaged by depression and anxiety, bipolar disorder and ADHD. People with one diagnosis when followed over a lifetime often gain several more, as seen with diabetes, related eventually to hypertension, heart disease, stroke and Alzheimer’s. Not infrequently several psychiatric diagnoses are made at the same time, like panic disorder and anxiety coincident with depression.

What’s not remarked upon is why this might be. It’s one thing to know that similar brain areas are activated by psychiatric diagnoses. It's another to see what genetic areas are touched.

Importantly, GWAS studies often find the genes involved are in the vast array of “junk DNA." Much of human research has looked at the 22-24000 genes that code proteins. The two to twenty million “junk DNA” genes appear in masses of genetic material filled with repeats and odd rhythmic formats.

They are also places where much of the body's regulatory control takes place.

Seeing the body as an information system, this is one of the most complex areas around.

Complex Treatments

So psychiatric diagnoses involve large numbers of interlocking symptoms and syndromes. They affect all the biological and mental aspects of an individual. They’re systemic diseases. They generally last decades, and are often generational.

So why is treatment so neglected and ill funded?

The WHO classifies depression as perhaps the second largest burden on the world economy of any diagnosis. Depression rates are burgeoning among the young, especially young girls. Suicide rates are up in most age groups. Recent studies argue that suicidal ideas precede suicide in 70 percent of patients in an hour or less.

Emergency Room services work like crazy to get people with stroke into the hospital within an hour so effective treatment can be given. Where is urgency for mental health?

And why is it so difficult to get comprehensive mental health care? Medical psychiatric diagnoses are rife, particularly as we grow older. Why then is Medicare engaged in its “Targeted Probe–Education” program to cut psychiatric treatment? Where else in the world are doctors required to write two simultaneous charts, medical and psychiatric? Asked to track the patient’s willingness to be there, as if people walk into psychiatric offices on a lark? Demand that progress occur with each visit, as if schizophrenia is cured in a moment?

Why do so many insurance schemes cut out or refuse to pay for psychiatric treatment, when the result is skyrocketing medical costs in the same people?

The answer to the last question is generally simple–insurance companies don’t want to insure psychiatric patients because they have too many intercurrent medical issues. They’re costly. It cuts their bottom line.

The Real Bottom Line

Psychiatric diagnoses are complex, systemic diseases that are hard to treat. The treatments are also complex. Neglecting them is fiscally foolish–psychiatric illnesses strike the young disproportionately, with major effects on the economy. It’s also morally irresponsible.

As the knowledge economy grows, particularly the knowledge economy, so will issues involving the brain. Psychiatric illnesses are increasing, and increasingly important to the physical and economic health of the nation. It’s time to give them commensurate concern and resources as kidneys and lungs and hearts.