Posted by & filed under Direct-to-Consumer DNA Testing, Genetics as Preventative Care, Rare Disease, Vibrant Gene.

Part 1: What is DTC Genetic Testing?

 

Young parents, with children, on laptop computer

Last week a company called 23andMe was awarded approval by the Food and Drug Administration to offer genetic testing to you at home.  This is the first time the FDA permits a rare disease gene to be screened without a healthcare professional’s involvement.  After reading this two-part blogpost, you will be better informed and able to decide if this type of genetic testing is right for you.

 

Is DTC genetic testing right for me?

Genetic testing isn’t for everyone!  In this post, we will discuss some of the benefits and some of the downsides to genetic testing from home.  At Vibrant Gene, we speak from both professional and personal experience.  We guinea pigged ourselves with 23andMe (when comprehensive health risk data was available, before November of 2013) and learned some interesting, valuable information.  This post is by no means comprehensive, but can serve as an introduction to the process.  We hope you will be empowered to make informed decisions about direct to consumer (DTC) genetic testing for yourself and your family.

What are the top reasons to seek genetic testing at a clinic?

There are many reasons why people seek out genetic testing in clinics.  Some people have a family history of a condition, and need to know what are their chances of acquiring the disease throughout their lifetime.  For example, Angelina Jolie realized her mother’s ovarian cancer could be heritable. Through genetic testing she learned that she herself had a substantial risk of ovarian and breast cancers, and was able to make some potentially life-saving healthcare choices.

Many folks know that a family member has a variant in an important disease gene, and need assistance getting themselves screened for that particular gene.  Angelina Jolie’s biological children may choose to be tested when they are adults.  And, you can see how this information can be especially important to couples, as they make family planning decisions.

People in their childbearing years commonly seek genetic counseling to learn about risks to a pregnancy, and how to have a healthy baby.  There are genetic tests for the parents-to-be as well as genetic tests available for the pregnancy.

A growing number of people are interested in improving their personal health through genetic testing.  Pharmacogenetic tests are available to determine which prescription drug may be most effective with a person’s genetic profile.  Others turn to nutrigenomic testing to understand how to optimize their diet to avoid common diseases and lower their risk of cancers.

DTC testing is currently far more limited than the testing that can be obtained from a healthcare provider in a clinic.

What genetic tests are currently available to me at home?

At the time of this posting, there is currently only one genetic test that is FDA approved and available direct to consumer.  The company 23andMe can provide screening for a gene that causes Bloom syndrome.  Adults who are of child rearing age, and interested in preventing this disease in their children are the best candidates for this test.  More DTC genetic testing companies are expected to seek FDA approval in the near future.

How does DTC genetic testing work?

Pursuing DTC genetic testing can be as simple as ordering a kit from the company’s website, providing your credit card number, collecting a saliva sample, and returning the completed kit by mail.  The results come available within a given time period, and can be accessed through the company’s web portal.  Note that you decide who will or won’t be present while you receive the results, and the timing of when you decide to open them.  The interpretation of what the results mean to you and to your family is left up to you.

How can I benefit from DTC genetic testing?

We believe it is your intrinsic right to know your genetic information.  End of story.  Genetic testing can save lives and prevent serious debilitating diseases in future generations.  Genetic testing from your home can be convenient, saving you a trip to a clinic, and a copayment.  Depending on the company, the test may be less expensive from home, especially if your insurance declines to cover it from a clinic.  Having the testing done on your own can also be very private.  And you can get a genetics specialist involved at anytime.

Are there any risks to pursuing DTC genetic testing?

There are some risks to consider before you order that DTC kit.   One of the biggest downsides to having testing done at home is having a lack of support.  Your healthcare provider ideally would help you to weigh the benefits to risks, know which genetic test is high quality and appropriate for you, help with the interpretation of the results and provide emotional support if/when there are surprises.  There are some genetic testing companies that over-estimate and over sell the DNA test’s potential, as illustrated by a recent study at Dana-Farber.

Ordering a genetic test can be surprisingly complicated.  Genetic testing is constantly changing, with new emerging technologies constantly popping up.  As a result, the wrong test can be ordered inadvertently.  One laboratory, ARUP in Salt Lake City, published a study indicating that these mistakes add up–$48,000 worth of incorrect genetic testing per month ($1.2 million total during the 21 month study)!  In this case, however, you are the one who stands to lose money, instead of your insurance company.

The bottom line is If you have a family history of a genetic condition, you need to be 100% certain you are ordering the correct test.

If the incorrect test is ordered, you may be left with a false sense of security.  That may sound minor, but the test is actually detrimental to your health.  You would not know to seek potentially life-saving screenings or preventative measures.  For example, folks with Lynch syndrome need colonoscopies much earlier than the general population.  WIthout this knowledge, however, the standard colonoscopies may be too late.

When the results arrive, due to circumstance, you will be without a healthcare provider and their guidance.  Sometimes the results are fairly straightforward, and the next steps in your care may be clear to you.  But often genetic testing results are extremely complicated, and require a genetics provider to fully understand them.  In part 2 of this post, we will describe what types of results you can expect to see.

Emotional support can be an important component of genetics care.  People commonly report their genetic test results changed their self-perception.  We encourage you to contact a genetic counselor for support, should you feel alone or upset by your results.

Genetics tests and screens can be extremely powerful.  When done correctly, you can help your family to avoid serious disease in future generations, and sometimes learn life-saving information.  However, these tests need to be done responsibly in order to minimize risks and to enjoy the benefits of your hard work.

How can I make a decision about DTC genetic testing?

Next week we will post information that may help you to make a final decision about DTC testing.

In the meantime, you might consider the following steps:

    • Do your own research, starting on the genetic testing company’s website.  Does the company market other products such as supplements?  What will they do with your health information?
    • Inquire with the testing company for more information.  Ask to speak with a customer care representative, or with their genetic counselor, if available.  This is a free service that most genetic testing companies offer.
    • Speak with your clinical genetic counselor, or other genetic health provider if questions persist before or after testing.
    • If you don’t have access to a clincal genetic counselor, you can contact Vibrant Gene, or visit nsgc.org to search for one.

Stay tuned for Part 2; we will ask five key questions to help you decide if DTC genetic testing is right for you.

 

 

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