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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23andMe Ordered by FDA to Stop Marketing Genetic Tests

freeimage-6744613-web genome

I’ve been on the fence about 23andMe’s personalized genetic tests.I like that it’s a cheap way to access your own DNA- which many of us may never have the opportunity to do. On the other hand, many of the gene allele interpretations are based on very small research studies that may not apply to the general population. The test has risk predictors for mental health conditions like schizophrenia, bipolar disorder, depression and alcholism. I have looked at the studies that 23andMe bases their intrepretations on, and I find them lacking. I would not recommend that anyone make decisions on treatment, medication, or personal life decisions such as having children, on such results.

23andMe is backed by Google, so obviously there is a lot of money behind the company. I think it is very important that the FDA takes this stand, and demonstrates to the American public that profit has to take a backseat to safety.

Alberto Gutierrez, director of the FDA’s Center for Devices and Radiological Health, said in a letter to the company made public on Monday that 23andMe had failed to address concerns raised on multiple occasions since the agency began working with it on compliance in July 2009. He commented that the the FDA does not have any assurance that the firm has analytically or clinically validated the tests for its intended uses.

23andMe responded  “We recognize that we have not met the FDA’s expectations regarding timeline and communication regarding our submission,” the company said in a statement. “Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns.”

23andMe has plans to start markeing to the public via televison. As far as I can see from the report, they will not be able to do this immediately.

Here is a link to more information:

http://www.theguardian.com/science/2013/nov/25/genetics-23andme-fda-marketing-pgs-screening

 

23andMe and Mel or “The truth about my DNA”

gallbladder with text

I submitted a sample to 23andMe, paid $99.00 and waited for about two months. The results are in. Here’s what I found out:

My genome is boring.

Yep, that’s right. Boring. Hurray! Boring isn’t bad in a genome- genome drama is usually associated with challenging physical and mental syndromes. This test doesn’t pick up large gene events that result in birth defects, but it does pick up small gene changes that demonstrate increased risk for diseases such as cancer.

But I thought there would be something…well…..interesting. The biggest risk I have is a 20% increased risk of gallstones.

I know nothing about gallstones so I did what every “high risk” American patient does- I called Dr. Google. Here’s what I found:
What causes gallstones? Experts are not completely sure why some people develop a chemical imbalance in their gallbladder which causes gallstones, while others do not. However, we do know that gallstones are more common among:
Overweight/obese people, especially women. A study revealed that a bulging midriff almost doubles a woman’s chances of developing gallstones and the need for surgery to remove them. (I’m not too fat…yet) Women who have been pregnant (not me) People who have recently lost lots of weight. (not me either) Women taking oral contraceptives. (nope) Women undergoing high-dose estrogen therapy (nope) People with a close relative who has had gallstones. (nope) People whose intake of dietary fat is high. (does chocolate count?) People over 60 years of age. (nope) Native American Indians. (nope) People who take statins (cholesterol-lowering drugs). (nope) People with diabetes. (nope) Hormone replacement therapy (HRT) for women during the menopause. (nope)

A study revealed that a gene variant significantly increases the risk of developing gallstones . (significantly! High drama!)

Twice as many women get gallstones than men. (Yea, but I’ve always been a bit of a tomboy, and I’m told I’m “intimidating”)
So there you have it- looks like all of my risk is coming from my genes and from being a woman.

Next up was an increased risk for Psoriasis. Well, that’s no surprise because I actually do have Psoriasis, a very mild case. Oddly enough, it went away for my thirties. Perhaps it will go away again for my sixties, just in time for me to develop gallstones.

All the other increased and decreased risks were very minimal. To be honest I thought, with my family history, that there would be some increased risk in the mental illness category, but everything came through “typical.” This doesn’t mean immunity, everyone is at risk for mental illness, but some people have a higher genetic load. I read through the studies for the genes they test for, and I don’t think they cover enough ground to really give you an idea of your mental illness genetic load. It’s a start, but I wouldn’t make any serious decisions based on this information.

In other news, I’m not a carrier for anything they test for, which doesn’t really matter as I don’t have kids and don’t plan to, I have a slight sensitivity to Warfarin, and I most likely have blue eyes (I do).

Here’s what I like about the 23andMe genetic test experience:

1) It’s affordable. Clinical genetic testing is expensive ($2000 for minimal breast and ovarian gene testing if no family history). This is not a clinical test, although it is run in a CLIA approved lab- which meets some quality standards. It’s the cheap way for the layman to take a look at his or her own genome. To me, that’s a fun time.
2) It covers a lot of ground. I think it’s pretty cool that they give you drug resistance, carrier testing and disease risk, and some fun trait stuff. Plus some ancestry information. There’s something for everyone.

Here’s what I don’t like about the 23andMe genetic test experience:

1) It covers a lot of ground (yeah I know, it’s a ying/yang thing). They don’t just present a list, probably because the FDA slapped them around for not providing counseling. There are lots of disclaimers and check boxes to make sure you understand that if you have a positive result for something serious, you need to talk to a genetic counselor about it, blah de blah. That’s good, but it just takes a while to get through. That’s why people actually see a genetic counselor to help them with info that can be scary and confusing.
2) They have info on malaria and HIV resistance. There is no way I would tell someone that they were less susceptible than another person to malaria or HIV. Even though there’s proof that these reports don’t change behavior, I would not put it past someone who’s had a few cocktails to believe they are invincible. I read the (long) explanation of the resistance and it does mention there’s another strain that is not protected by this mutation. And HIV has an extremely fast mutation rate, so who knows when it could change.

Whew….I’m glad I just have a gallbladder to contend with for now.

Image courtesy of [dream designs] / FreeDigitalPhotos.net

23andMe website:
http://www.23andme.com