Dr. John Day, Cardiologist

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How to Test Your Genes

Have you ever wondered what secrets your genes hold?  Will you live a long and healthy life or will you suffer from the diseases that run in your family?

These are the same questions that I had.  I had to know what my future looked like so that by making the right changes now I could change my fate.  You may discover that you have an easily correctable genetic defect, like difficulties absorbing vitamin B12, which could save you from developing dementia later in life.

In this article I will step you through this painless and inexpensive process that I went through in order to have a glimpse at my own genetic future.

Step 1: 23andMe

In order to discover my genes, I “Googled” 23andMe.  After filling out the online form and paying $99, they sent the DNA test kit to my home.

The kit included a test tube to spit into as well as a self-addressed container to send it back for analysis.  The process was so simple and it just took me a few minutes to complete.

In less than a month, 23andMe contacted me to let me know my test results.  The report had my genetic ancestry.  I learned that I am 97% European and 3% Neanderthal.  The 3% Neanderthal is much higher than most people.  Perhaps this explains some of my quirky behavior.

I also learned that I have 929 genetic relatives in the 23andMe database.  The company even offered me the option of connecting with my genetic relatives.  As I am still new to the world of “DNA relatives” and still am not sure if I trust the intentions of the 23andMe company, I decided to opt out of this service.

In addition to my ancestry, 23andMe also provided me with my raw genetic data.  Unfortunately, due to a recent FDA ruling, they can no longer provide you with a detailed report of what this raw genetic data mean.

At the time I received email notification of my 23andMe results, Dr. Jared Bunch and I were traveling home from a medical society meeting in Washington DC.  I remember checking, gene by gene, with Dr. Bunch against a known database of genes to see if I was at risk for the diseases that run in my family.  It was tedious and I remember thinking, there had to be a better way…

Step 2: Promethease Report

Fortunately, I eventually stumbled upon Promethease with my internet search using the inflight internet service on my Delta Airlines flight home.  For just an additional $5 I could allow them to tap into my 23andMe raw genetic data and provide me with a detailed report of what my genes mean.

Within 15 minutes of uploading my 23andMe data to Promethease, I had a 310 page genetic report that I could understand.  For the rest of the flight home I devoured each page of this report.  For people without a medical or scientific background, you may not be able to understand a lot of what is in this Promethease report.

What Does the Genetic Report Tell You?

There is a lot of interesting data in this Promethease report.  For example, I learned that I have all of the “fat genes.”  This explains why I have to be so careful about everything I eat and to exercise religiously or I quickly gain weight.

I also found out that I am able to taste “bitter,” that I am slow caffeine metabolizer, and that I am not lactose deficient.  From a nutritional standpoint, I learned that I lack the gene that properly converts beta-carotene to the active form of vitamin A, retinol. This means that I need to make sure I am getting enough vitamin A to prevent nutritional problems down the line.

This report also tells you if you have the “longevity genes” allowing you to possibly live a long life.  You can even learn if you have the “smart gene,”, how well you memorize things, if you can smell asparagus in your urine, if you will go bald, or if you are at risk for becoming obsessive compulsive, or developing an addiction.  The report also shares the following:

1. Your risk for most known cancers.

2. Your risk for heart disease, diabetes, high cholesterol, or high blood pressure.

3. Your risk for most autoimmune diseases.

4. Your risk for serious neurologic conditions including Alzheimer’s Disease, Parkinson’s Disease, etc.

5. Your risk for many other conditions including eye diseases, skin problems, depression, etc.

How Accurate is the 23andMe Genetic Test?

Can you rely on the information from this test?  This is a question the FDA is currently grappling with.  One thing to remember is that no medical test is 100% accurate.  In fact, this Bloomberg article argues that 23andMe may only be 50% accurate based on an evaluation by genetic guru Craig Venter on 5 of his patients.

One area where 23andMe really missed it for me was that they said I had the “bald gene.”  The men in my family keep their hair.  I turn 48 this month and still have a full head of hair.  However, 23andMe was surprisingly accurate when it came to my ancestry and other medical conditions that run in my family.  I have not yet independently verified the results of my 23andMe genetic test.

We have all heard stories of people who “passed” a cardiac stress test only to suffer a heart attack shortly after the test.  I would look at these genetic tests as just a “screening” test–like a stress test.  You cannot act on the results until they have been independently verified.

If you find something serious, like say the Alzheimer’s gene (ApoE4), then you would want to contact your physician for additional testing to confirm the results.  This is why we, as cardiologists, generally recommend an angiogram or cardiac catheterization to verify the results of an abnormal cardiac stress test.

Can You Really Trust 23andMe?

As part of this process, 23andMe will also ask you about your family history.  This is clearly their attempt to gather as much information about us as possible.  Whether this information will be used for good or evil, only the future can tell.  Given the company’s close relationship with Google, it is quite possible that by combining your DNA with your online surfing habits this company will know more about you than you could ever possibly know yourself.

My guess is that the company will continue to use this genetic information, in partnership with pharmaceutical and biotech companies, to create blockbuster drugs that generate billions of dollars for the company.  For example, according to this report, 23andMe has already received millions of dollars from Genentech to look at possible new treatment options for Parkinson’s Disease.

The $99 for the test kit is likely just a “loss leader” to have a shot at the really big money in the future.  Already, close to one million people have already given their genetic information to 23andMe according to this Forbes report.

Are There Any Competitors to 23andMe?

Over the last few years there have been a number of competitors to 23andMe that have either gone bankrupt or have been bought out by bigger companies.  Perhaps this is because they did not have the deep financial backing of a Google or Genentech like 23andMe.  Many of these competing companies no longer sell direct to consumer but rather require you to go through your healthcare provider. To learn more about the 23andMe competitors, here is a blog article to review.

Do You Want to Know Your Genetic Future?

In deciding whether or not to have this test done, this is probably the most important question you need to answer.  For example, if some people know they are at high risk for developing Alzheimer’s Disease at a young age they could go into a deep depression. On the other hand, for some people this could be empowering as it would motivate them to do everything possible to silence the Alzheimer’s gene.

Can You Silence Your Genes?

Just because you have a cancer gene doesn’t mean you are destined to suffer from that cancer.  Indeed, from the Danish Twin Study we know that only 25% of our health, happiness, and longevity is determined by our genes.  The other 75% is completely up to us.

The decisions we make each and every day determine which genes are “turned on” and which genes are “turned off” through a process known as epigenetics.  Our genes are just the “seed.”  Whether or not the seed grows depends on the nutrients in the soil, sunlight, and water.

The same is true for us.  Living the perfect lifestyle may not allow that cancer gene to ever do anything.  In most cases, the choice as to whether we suffer from our genetic fate is really up to us.

What Are the Dangers of Knowing Your Genes?

Knowing your genes certainly comes with some risk.  Besides potentially becoming depressed based on your report, it is possible that insurance companies could discriminate against you based on this genetic information.  For example, you may not be able to get life insurance based on the results of genetic testing.

Fortunately, the results of these tests do not go into your medical record unless you choose to share them with your physician.  As of the time of writing this article, I am not aware of any insurance companies being able to extract this information from 23andMe or Promethease.

Also, as mentioned above, at some point your genetic data could be combined with your online searching habits.  This could create such a clear picture of you that insurance companies, future employers, or even government officials would salivate to get their hands on this data.  Once you give them your DNA you will never be able to protect your most priceless information.

Should You Do It?

At the end of the day, the decision as to whether you decide to do genetic testing is completely up to you.  It is a painless and easy process to go through to get the testing done.  23andMe and Promethease have both done a great job at streamlining the process to make it as easy and painless as possible.

For me it was important to know what my genes said.  Learning this information has only strengthened my resolve to live as healthy as I possibly can to escape the medical conditions I am at risk of developing.

If you want to do it but yet don’t trust 23andMe with your genetic data, then you could consider getting the test done anonymously.  In other words, you don’t provide 23andMe with anything but your own saliva and an address to mail the kit to.  You can even create an alias email account for this transaction.

Have You Tested Yourself?

If you have taken the plunge and had your genes tested, how was the process for you?  Are you glad you did it?  How has your life changed based on this new information?  Do you worry about giving up your genetic information?

Disclaimer

In this article I am not recommending personal genetic testing.  I also have no financial relations with any companies mentioned in this article.

Any genetic information you provide could be used to harm you or your family now or in the future.  Also, the information you receive from these tests could be inaccurate leading to unnecessary physiological distress or medical tests.  If you are interested in doing your own genetic testing, please discuss the potential implications of this decision with your physician first.