The new science of brain health
I was at my psychiatrist’s office in New York. He gave me a cotton swab and told me to swipe the inside of my cheek. I collected a sample and placed it in an envelope. I gave my consent to have a genetic test.
I’d gone through a breakup and was seeing a psychiatrist for anxiety. The stress of New York City life was taking a toll. I’d started using benzodiazepines—Ativan, Klonopin. They led to dependence and withdrawal symptoms. I was having panic attacks in the subway and in movie theaters.
A few days later my psychiatrist shared the findings of the genetic test. I had a common gene variant called?MTHFR.
The MTHFR gene variant inhibits the way the body processes folate and other important B vitamins. Researchers believe folate deficiency may be related to mental health conditions like depression, anxiety and ADHD.
My psychiatrist told me to take supplemental?methylfolate, a bioavailable form of folate that helps the body absorb it more readily. He said he’d started using genetic testing more often in his practice:
“It’s a paradigm shift in psychiatry. You can learn quickly with the MTHFR gene whether you need to supplement with folate. This affects two-thirds of all people.”
I stopped using the benzodiazepines, gradually, and started taking methylfolate. I made lifestyle changes—diet, exercise, sleep. The panic attacks didn’t come back. If I hadn’t done the genetic test, I wouldn’t have known about my MTHFR gene variant.
Last week I wrote about?how digital tools are transforming how we diagnose mental illness. This week I’ll explore new research on how our genes—our unique biological code—shape our brain health.
What is pharmacogenomics?
I spoke to a psychiatrist about his use of genetic testing:
“We use this testing when we’re facing a situation where patients come in who are treatment-resistant to depression or schizophrenia or bipolar. We may use pharmacogenomic testing to better select meds when a slew of meds have been tried and failed.”
Pharmacogenomics is the study of how genes affect a person’s response to drugs. It’s a relatively new field that combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications that are tailored to a person’s genetic makeup.
For people with mental health disorders,?pharmacogenomics may help psychiatrists identify the best drugs to treat them. While some patients with depression respond to the first drug they are given, many do not, and doctors have to try another drug. Because each drug takes weeks to take its full effect, patients’ depression may grow worse during the time spent searching for a drug that helps.
Psychiatrists in outpatient practices are using pharmacogenomic tests like the?GeneSight?psychotropic test from?Myriad Neuroscience. The test provides information about which medications may be less likely to work for you, or may have an increased risk of side effects based on your genetic makeup. Psychiatrists say it can be helpful with patients who have treatment-resistant depression to identify the right medication group more quickly.
The test is done via a simple cheek swab. It uses a combinatorial algorithm that examines 12 genes to predict which medications a patient is more or less likely to respond to. The system generates a color-coded report that is easy to interpret and explain to patients.
A study last year showed that patients whose doctors received GeneSight results had?significantly improved response and remission rates from depression, compared to treatment as usual.
Cost is an issue for these tests. With insurance, the patient has to pay up to $330 out of pocket. The GeneSight test is covered by Medicare and UnitedHealthcare, the nation’s largest insurer. Other insurance companies consider these tests?investigational and not medically necessary.
Coverage of pharmacogenomic tests could increase as more data is gathered showing clinical benefits. Further research in pharmacogenomics could help guide better treatment for patients with other mental health conditions, like bipolar disorder and ADHD.
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Shining a light on mental illness
How do our genes, passed?down through evolution, control human emotions??
I reflected on this while reading a book called?Projections?by Karl Deisseroth, a psychiatrist and professor of bioengineering at Stanford. The author describes the challenge of treating psychiatric patients:
“Nobody could give answers to the simplest questions about what their disease really was, in a physical sense, or why this person was the one suffering.”
Many psychiatric disorders have genetic causes, but the exact mechanism of how genes influence higher brain function remains a mystery.
Dr. Deisseroth writes eloquently on how our brains are shaped by evolution:
“Every innovation in evolution is accidental at first. Our neurons are guided during brain development by a vast diversity of path-setting molecules as strong as thread-guides on a loom—tiny signposts that send a slowly growing bundle of nerve fibers, called axons, on to the next brain region, or turn it back if it has come too far.
Mutation in genes governing any of these steps, redirecting axons from emotion-regulation regions of the brain, would be enough to bring into the world a new way of being human, with a new way of expressing feeling.”
Dr. Deisseroth is known as a pioneer of?optogenetics, a technique that involves?shooting light into specific brain cells to?examine how particular neurons contribute to complex behaviors.?Optogenetics research has shed light on which parts of the brain control emotions, like fear, and basic human drives like hunger, sex and sleep:
“Neuroscience has reached a tipping point. For the first time, scientific explanations for what mental illnesses are, biologically, seem within reach.”
Anxiety
Optogenetics technology has revealed that emotional states typically involve several brain areas. Anxiety, for example, begins in a region of the brain called the bed nucleus of the stria terminalis (BNST), an extension of the amygdala (a part of the brain involved with experiencing emotion).
Autism
This mental illness is marked by lack of eye contact. Psychiatric research has explored whether autism is caused by anxiety, or the overwhelming feeling of trying to interpret another person’s facial expression.
People with autism, Dr. Deisseroth explains, struggle with the “rate of information flow,” a difficulty that complicates the many social interactions that are rich in data and require rapid processing.
Optogenetics research shows that many of the genes linked to autism are related to electrical and chemical excitability in the brain:
“Charles’s brain was detecting its own inability to keep up with the social data stream—while aware that it should be keeping up, that this was a situation where processing the data was essential. His brain had created a link from that challenge to a state of feeling bad.”
Reading “Projections” was eye-opening for me. I realized that while our genetic blueprint defines us in profound ways, it doesn’t shape our destiny. We have control over our thoughts and feelings. We can turn our challenges into strengths.
I’m inspired by the brilliant scientists blazing new paths in neuroscience research. The field of psychiatry is entering a new era as researchers learn how our genes and our bodies’ unique chemistry affect our emotional well-being.
This scientific research could lead to new treatments for behavioral disorders and mental illnesses. As we gain a deeper understanding of the complex chemistry of the human brain, we’ll be better equipped to help people struggling with mental illness lead better lives.