What is Direct-to-Consumer Genetic Testing? | Genome Medical - YouTube

I’m Erynn Gordon, I’m a genetic counselor and the vice president of clinical operations at Genome Medical.

What is a Direct-to-Consumer Test?

Direct-to-consumer genetic testing is a genetic test that you can access directly

without going to a healthcare provider.

Typically, you would go to the lab’s website, order a test and they would ship a kit directly to your home.

In some cases, those are FDA approved tests that don’t require any physician authorization.

In other cases, the lab has contracted with a physician

who’s going to review your medical history that you enter online and then authorize the test.

I have questions about my DTC test results, how can I get answers?

Typically a direct-to-consumer genetic testing lab will send your results directly to you.

If you have questions about your results, you can either take them to your doctor

see if the lab has a genetic counselor that you can speak to,

or you can speak to a genetic counselor at Genome Medical.

Some direct-to-consumer genetic testing companies offer health-related information

while others offer more recreational information, things about your ancestry.

If you have questions about your health and you decide to pursue a direct-to-consumer test

it’s important to understand how comprehensive that information is.

In some cases, the information can provide useful insights into health risks.

In other cases, you might need a diagnostic test.

There’s a big difference between a screening test offered through a direct-to-consumer genetic testing company

and a diagnostic test that’s ordered by a clinician to help investigate a medical concern that you might have.

What can a DTC DNA kit tell me about my health?

Genetic testing can be complex, there’s a lot of information there.

There’s a lot of different test choices.

When you think about what genetic testing is,

it’s really looking through your genetic makeup.

So what is your genetic makeup?

It’s really the recipe book that makes you, you.

And when we do genetic testing, we are looking for whether or not you have any typos

in your recipe book.

Some genetic tests do a spot check. They look at a few letters throughout your book

to see if there might be a typo just in one of those spots.

On the other hand, diagnostic testing sequences every single letter looking to see,

do you have a type anywhere in your genetic book?

What is the difference between genetic screening and diagnostic testing?

You might not realize it, but there’s actually lots of different types of genetic tests.

That’s why it’s so important to talk to a genetic expert when trying to decide

what type of genetic testing is right for you.

For example, there are screening tests and diagnostic tests.

Screening tests are intended for healthy individuals.

They might look at one gene, they might look at many genes.

But in general, they look at a more surface level.

They’re not intended to find every mutation linked to a specific disease.

On the other hand, diagnostic testing has been designed specifically to find all of the genetic variants

associated with a particular medical condition.

If you have a medical condition that you’re concerned about, you want to make sure you’re using the right

diagnostic test to help find a diagnosis for that condition.

What can my raw data file tell me about my health?

In some cases, those third party sites provide health information back and might tell you

that you’re at an increased risk for certain genetic diseases

based on that raw data file.

We would encourage you to discuss that information with a genetics expert

to help you understand whether or not that data is valid.

In most cases, raw data has not gone through the same quality control procedures,

and is not intended for use in your medical care.

So Genome Medical is really here to help you understand and put in context

your genetic test results and then plan out your medical management around that.

Does this warrant additional screening?

Should you incorporate this somehow in your medical care?

Or is this a relatively small impact?

And then for any changes that are identified, where it might be a significant impact, where it might

guide changes to your medical management.

If that information is coming from a raw data file, what we would do is order a diagnostic test for you.

We would say, you know what, this is concerning.

We should take this seriously, let’s get this confirmed in a clinical lab that does diagnostic testings

so we can feel really confident in the results

and we can understand and make plans for how we can use this information.