Business Insider’s Discussion of Direct-to-Consumer Genetic Testing (with some quotes from yours truly)

I was interviewed for Business Insider Magazine regarding Kailos direct to consumer genetic tests. I think Lydia did a nice job discussing the benefits and limitations of at home genetic testing.genes

Here’s her article:

I shipped my spit to a genetics company to have it tested, 23andMe style — here’s what I found out

That information can be used for everything from finding out where your family came from to figuring out if you’re predisposed to certain diseases.

Companies like AncestryDNA and23andMe have been partnering with drug companies to try and figure out what role genetics plays in getting sick, and how it can help us get better faster.

But how much can the average consumer learn from his or her genes?

I decided to try out some tests from Kailos Genetics, a genetic-testing company based in Huntsville, Alabama, to find out. All of the tests Kailos offers are designed to help determine how you might respond to certain medications. These include antidepressants, contraceptives, breast-cancer medication, pain-management treatments, blood thinners, and stomach-acid reducers. You can also opt for an all-inclusive test that includes all of these genetic markers.

About me: I’m a 22-year-old woman who is, apart from some seasonal allergies, healthy. I ordered the contraceptives and antidepressant tests that Kailos offers, since those would be the types of medications I’d be most likely to use at this point in my life. I also have a family history of blood-clot problems, which in some cases can be worsened by oral contraceptives.

Here’s how it went down:

Sending my spit to Kailos

A week after ordering the two tests, I got a big purple envelope in the mail:

praxis envelope cropLydia Ramsey/Business Insider

The kit came with instructions, a letter explaining the test, two swabs, a collection bag, and an envelope:

kailos kitLydia Ramsey/Business Insider

I opened up the first swab and started collecting samples of my cheek tissue on the left side of my mouth. To get a good sample, I had to scrape the side of my cheek up and down with the swab for about 30 seconds.

IMG_4990Lydia Ramsey/Business Insider

After repeating the process with the other swab, I put both of them back in the collection bag, packed them all up in the return envelope, and shipped it off to Kailos for testing:

IMG_4992Lydia Ramsey/Business Insider

The results

Once Kailos’ diagnostic lab got my envelope, my sample went through an enrichment process to separate the genetic material — my DNA — from the rest of the stuff on the cotton swab so they can have a better look. Then, the lab technicians looked at my DNA and used a computer to home in on the genetic regions that are relevant to the specific test they were running.

Next, they turned the results over to Kailos’ in-house physicians to interpret the results. These doctors are what allow Kailos to sidestep the problem of needing a middleman — who’d most likely be my primary-care doctor — to discuss my results with me.

Instead of talking to a doctor, my results were posted online to my account on Kailos’ website, which I’d created to order the test.

Thumbs-up for medication No. 1

Screen Shot 2015 10 01 at 4.37.12 PMLydia Ramsey/Business Insider

For the first part of my results, which looked at whether I should avoid certain contraceptives, I saw two big “thumbs-up” symbols.

This meant that the test, which looked at two genes related to how my blood clots, found they were functioning normally — there was no reason they could see that I shouldn’t take the medication.

Those genes were my Factor 2 and Factor 5 genes. Research has found that people with a specific mutation, or tweak, on either of these genes can be at risk of dangerous blood clots, which can stop the blood from flowing from your heart to other parts of your body.

All of this is important for someone considering using contraceptives, since the kind that are taken orally (aka many traditional birth-control pills) can be linked with an increased risk of blood clots in some people; the hormone estrogen in the pills increases certain proteins in the blood that help it stick together and clot.

Thumbs-up for medication No. 1 … sort of

Screen Shot 2015 10 08 at 4.44.21 PMLydia Ramsey/Business Insider

The next part of my test results focused on whether I had genetic tweaks that could make it a bad idea for me to take antidepressants. The test looked at potential indications against taking three of the most popular types: tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), and serotonin-norepinephrine reuptake inhibitors (SNRIs).

Genetics can give us clues about how good our body is at absorbing certain oral antidepressant medications. The CYP2D6 and CYP2C19 genes, for example, make proteins in the liver that break down a hefty proportion of prescription drugs, including antidepressants.

The good news? I should be good to go with all three types: I don’t have any mutations that would cause my body to absorb the drugs poorly.

But while my results suggested my body could handle any of these medications — should a psychiatrist or mental-health professional prescribe them to me, of course — experts say the results aren’t so clear.

Carmela Thompson, a genetic counselor with Genetic Discovery SF, told Business Insider that although she thinks genetic tests are great for figuring out if a person has a hereditary condition like Huntington’s disease, she wouldn’t recommend using them as the sole way to determine the best solution to treating psychiatric conditions.

At least not yet.

“As far as psychiatric conditions go, we’re not there yet and we may never be there,” said Thompson. That’s because the conditions often have multiple factors in addition to genes at play, like environmental factors, so what’s influenced by genetics isn’t quite as clear.

Why Kailos didn’t run into the same problem as 23andMe

Genetic testing companies, like 23andMe, have run into trouble with the FDA for not getting its approval before making their genetic-health tests, which are pretty similar to the ones Kailos offers, available.

But Kailos is already government regulated. As a Clinical Laboratory Improvement Amendments-regulated industry, Kailos’ lab facilities are regularly inspected by the Centers for Medicare and Medicaid Services, which is in charge of ensuring they’re up to par.

Also, having a physician analyze the tests on Kailos’ end is a key way to steer clear of the roadblocks other genetic-testing companies face. Instead of providing uninterpreted information directly to a consumer, that information is going through a trained professional who can make sure it’s interpreted accurately. Troy Moore, Kailos’ chief scientific officer, told Business Insider the reason they opted for more specific tests for certain medications came from their background as a clinical lab.

The verdict

While it was easy to submit my samples and see my results, I didn’t find the test incredibly helpful. I’m grateful to see my results were positive, but part of me was hoping to learn something more nuanced about how my genetics interacted with medicine, like if a certain type of contraceptive would have less negative side effects or would work better for me than another, or if I shouldn’t take contraceptives at all.

Along with the thumbs-up/thumbs-down rankings, Kailos also provides all the raw information for the genes each test looked at, which could help a doctor dive deeper into what the test means for me.

I could have asked a doctor to go over my results with me typically the tests Kailos provides are coordinated with a physician, but when I saw the thumbs-up signs, I didn’t think going over my results with a doctor was necessary.

Which brings up a potential concern when it comes to consumer tests overall: What if, after receiving his or her results, a patient who was on medication chose to use them to start making changes to when and how he or she takes it?

This was a concern Thompson brought up when I told her I hadn’t contacted my doctor about my results. Because parts of genetic tests can get really complex, it’s helpful to have people with at least a physician-level knowledge of genetics around to interpret what it all means, she said.

“It’s just a tool,” Thompson added.

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The Biggest Loser and the Anniversary of Karen Carpenter’s Death.

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Feb. 4th, 2014 was the 31st anniversary of Karen Carpenter’s death. Karen was a drummer and singer, famous for her work with her brother in their duo, The Carpenters. Karen suffered from anorexia and died of heart complications related to the disease. She was only 32 years old.

Feb 4th, 2014 is also the day that the Biggest Loser competition crowned their current season’s winner, Rachel Frederickson. Rachel started the competition at 260 lbs, and lost 155 lbs, -almost 60% of her body weight.  At 105 lbs, Rachel is under the recommended BMI for her age and height.  A trip on the stairs while she walked to the scale was prehaps an indication of her fragile state.

Rachel was quoted on 2/5/14: “I’m at the maintenance point now so I need to find some balance and make sure I work out and I eat healthy and make good choices 90 percent of the time,” she told TODAY after the finale. “I’m not sure (I’ll maintain this weight), but I plan to try new exercises and just continue on this path and see where that takes me.”

While she may have just lost weight for the competition, everyone knows the real challenge begins after the show is over. For some, it’s keeping the weight off, for others, it might be coping with a new-found eating disorder.

Eating disorders have a genetic component, most likely involved with neurotransmitter pathways- pathways which help the brain sooth the body and reward survival behavior (sex, eating, exercise). People with disruptions in the neurotransmitter pathways often subconsciously look for external reward methods- drugs, alcohol, food, extreme exercise, or adrenaline producing behavior. People with eating disorders are often found to be competitive perfectionists. While Rachel may just have lost the extreme amount to win, who knows what hurdles she may now face without the reward of the competition.

While it is a coincidence that Rachel won with an anorexic body type on the 31st anniversary of Karen Carpenter’s death, let’s hope we’ve actually learned something from Karen’s life, and have an open conversation with Rachel about the potential trap. This is an extremely bad example for people who are trying to make a healthy change in their lives, and the Biggest Loser needs to step up and make some changes in the show’s rules to prevent this from happening again.

2D11516045-140205-ent-rachel-hmed.blocks_desktop_medium

Do People With Mental Illness Age Faster Than People Who Are Unaffected?

Last week I attended a talk by Dr. Owen Wolkowitz, psychiatrist and professor at UCSF Langley Porter Institute.  His answer to this question is “yes.”  He refers to mental illness as “disorders of the whole body.”

There is data that people with mental illness die, on an average, 25 years earlier than people in the general population.  30-40% of people with mental illness die of suicide or accidents, but the remaining 60% die of natural causes earlier than the general population.

There are some obvious reasons as to why:

1)      Poor lifestyle – smoking , drinking, illicit drug use, bad nutrition

2)      Poor access to healthcare, poor medication compliance, homelessness

3)      Medication side effects such as obesity, increased lipids

Less obvious are some of the behind the scenes factors, such as inflammation due to stress.

It is also possible that mental illness actually changes our DNA, in particular our telomeres. Telomeres are the pieces of DNA at the ends of the chromosomes. Each time a cell divides, it duplicates its chromosomes, and a little bit of the end of the chromosome is lost. At some point, too much information is lost, and instead of dividing, the cell dies. This is the aging process in a nutshell. We can’t have cells that live forever (that’s what happens in cancer, the mechanism gets screwed up and the cell keeps dividing forever.)  Telomerase, the enzyme that adds the telomeres to the end of the chromosome, can be measured in the blood, and can be used as a marker for aging.

telemore-image2

Studies have been done on telomeres of people with mental illness. Studies of people with depression show telomere shortening. Adults with early life trauma have shorter telomeres, demonstrating perhaps a “scar in the brain.”  There’s evidence that people with schizophrenia who take anti-psychotic meds have longer telomeres than people with schizophrenia who aren’t taking any medication- demonstrating a potential benefit of medication. It’s possible that anti-psychotics can have an effect by reducing inflammation and oxidative stress.

The good news is that telomeres can lengthen. Factors known to extend telomere length to a healthy level include exercise, dietary restraint, multivitamins, folate, Omega 3’s, stress management, statins, estrogen and social support. So while good nutrition, good sleep, exercise and avoidance of illicit drugs are good plans for everyone, they are especially important for people with mental illness, or people at risk for mental illness.

Link to article on telemore shortening:

http://www.sciencedirect.com/science/article/pii/S0006322306001363

Genetic Clues to Anorexia Nervosa

Teen Anorexia Treatment

Anorexia nervosa is a complex disorder, a combination of genetic predisposition and environmental and behavioral factors. A recent study looked at 152 genes that are known to be involved in eating behavior, dopamine function, and brain communication to look for genetic variations that might be associated with Anorexia. Three groups of research subjects  were looked at for a total of 1205 case subjects and 1948 controls. Results from the study linked anorexia with two genes: ESR2 and EPHX2

ESR2 is an estrogen receptor. Estrogen receptors are found in both men and women, but play a higher role for women, particularly starting in adolescence. Anorexia is more common in women, and typically develops around the start of puberty, so the connection here at least follows logically. It may come to some as a surprise that men also can have anorexia, and men also need a small amount of estrogen for strong bones and brain function.

EPHX2 ‘s connection is not as obvious. The gene codes for the epoxide hydrolase protein which is involved in the breakdown of fats and toxins. EPHX2 is involved in cholesterol metabolism, and defects in the gene are associated with a disease called familial hypercholesterolemia. Anorexia nervosa patients often display hypercholesterolemia, which is counterintuitive, given the under-nutrition and low body weight of affected individuals. The study says, “It has been hypothesized that low levels of cholesterol may decrease the activity of serotonin receptors and transporters and that significantly lower cholesterol levels are associated with depressive symptoms, impulsive/self-harmful behavior (cutting and/or burning) and suicide thoughts/attempts in anorexia patients. Moreover, lower cholesterol levels have been associated with increased suicidality more broadly, including ideation and attempts, in depressed patients.”

Dr. Schork, one of the paper’s authors said, “The hypothesis would be that in some anorexics the normal metabolism of cholesterol is disrupted, which could influence their mood as well as their ability to survive despite severe caloric restriction.”

The study hopes that their results will provoke interest and more research into the connection between these genes and anorexia.  It’s exciting news for researchers studying eating disorders.

Here’s the link to the article:

http://www.nature.com/mp/journal/vaop/ncurrent/pdf/mp201391a.pdfmale anoerxia

New Clues to the Cause of Schizophrenia

nerve-6

A research study published Aug 25th on Nature Genetics online has found 22 genetic risk loci for schizophrenia, 13 of which are new discoveries. Genes at these loci suggest involvement of two pathways- the calcium signaling pathway and the “micro-RNA 137” pathway. Calcium plays a major role in normal cell functioning. It is a signaling molecular involved in synaptic activity (the junction between nerve cells where neurotransmitters like serotonin are released), cell to cell communication and cell adhesion. In the brain, calcium is fundamental in the control of synaptic activity and memory formation. Calcium signaling disturbances are already known to be involved in different brain diseases such as Alzheimer’s, Parkinson’s, and Huntington’s diseases. The Micro-RNA 137 pathway is involved in neuronal development. This association of development and regulation of brain nerve cell genes with schizophrenia may further understanding and help with new treatments for the disease.

The lead author of the study, Patrick F. Sullivan, MD , commented:

“This study gives us the clearest picture to date of two different pathways that might be going wrong in people with schizophrenia,” Sullivan said. “Now we need to concentrate our research very urgently on these two pathways in our quest to understand what causes this disabling mental illness.”

The link to the study is here:

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2742.html

Schizophrenia? But she’s only six years old!

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Yesterday while walking down Irving Street to the bank, I saw a guy on the corner yelling at passing cars. My first thought was “oops, forgot to take his meds this morning.” In San Francisco it’s  commonplace to see people hallucinating, and usually I feel some empathy and move on. But with this guy I started wondering about his childhood, and when was he diagnosed,  probably because I recently read Michael Schofield’s book January First: A Child’s Descent into Madness and Her Father’s Struggle to Save Her.  Michael Schofield’s daughter, January, received a diagnosis of schizophrenia at age 6. This came about after many years of coping with her violent behavior and genius IQ.  While it is difficult to like Schofield (whose depression manifests in anger, directed at everyone but himself), the book is an interesting study of a family history of mental illness. It is also a disturbing report of how difficult it is to get help for children with psychiatric disorders. Schizophrenia is rare in children, affecting only about 1 in 40,000, compared to 1 in 100 in adults. (The average age of onset is 18 in men and 25 in women).  With the illness manifesting so early in this family, I would expect a strong genetic component.

In the book Schofield reports the following:

His mother suffered from hallucinations and once tried to stab Michael with a kitchen knife because she thought Michael was her father trying to rape her. She never received a diagnosis, but it sound like some kind of psychosis.

His first cousin once removed had a diagnosis of schizophrenia and committed suicide.

Michael was on Ritalin from five years old to thirteen. He currently takes Lexapro for depression.  He attempts suicide during the time frame of the book.

Susan(January’s mother)’s paternal great uncle had a diagnosis of schizophrenia and was hospitalized in Napa State Hospital.

So, the risk to Michael and Susan having a child with any mental illness was definitely increased over the general population risk. The risk of ADHD is very high, owing to Michael’s diagnosis. The risk of having a second child with schizophrenia is about 10%, possible higher because the onset was so young, especially in a female child.   The Schofields do have another child, a boy, who is diagnosed with autism.  Some of January’s symptoms fall in the autism spectrum range, which beg the question of whether she also has an extreme case of autism or perhaps a dual diagnosis.

I found this statement written by a mother on a support group page:

“Having a mental illness is terrible, but if it has to happen to someone, it’s probably best that if happen before age 18 when parents can still make healthcare decisions for the child. Too often, when adults are diagnosed with mental illness, they are too ill to make rational decisions, and their loving parents are legally prohibited from making decisions for them, so they don’t get good treatment right away. Some never get treatment at all. Our sons are fortunate to not be in that situation. If a child gets effective treatment and becomes accustomed to adhering to it while he’s a minor, maybe he will stick with it during adulthood and live a healthier, happier, more independent life. IMHO, that’s the silver lining of childhood diagnosis.”

The guy I saw on the corner was gone by the time I was heading back from the bank. Hopefully he got what he needed.