You've seen those at-home DNA test commercials, but not a whole lot of detail can fit into a thirty-second spot, so you probably have a few questions. And the information that DNA testing reveals can be as complicated as, well, a double helix, so it's smart to go in armed with information. , the University of Utah School of Medicine's Chair of the , says you'll get more out of a test if you know what you want to learn. And if you don't know what you *want to know* — keep reading.
DNA Testing
You have dozens of options when it comes to DNA testing, but in the simplest breakdown, sequencing options come in two different forms, medical and direct to consumer.
Health and wellness-related medical sequencing tests are ordered, administered and reported to you with support from medical professionals.
In the direct-to-consumer realm (tests you order, take at home, and interpret on your own), there are ancestral and health options, and prices start as low as $30. Dr. Jorde calls these tests "recreational genomics" and says results are interesting - but definitely pretty limited.
Recreational Genomics
With that in mind, there are many things you can learn from a direct to consumer test, and Dr. Jorde says they can prove to be valuable — and even life-saving. This includes newly testing for whether you carry one of three BRCA1 and BRCA2 gene mutations, or variants seen mostly in people of Ashkenazi Jewish ancestry. "If you have one variant - the risk goes up substantially," said Dr. Jorde, "you have a 50-75 percent chance of developing breast cancer."
A variant also could mean an elevated risk of ovarian cancer. "Developing ovarian cancer is much more serious," Dr. Jorde said, "because it's more difficult to detect early."
He stresses how critical professional help is in the case of any variation like this in direct to consumer testing — or anything that concerns you, period. In the case of a BRCA variant, he recommends a trip to a breast cancer clinic to have a full gene sequencing done. (If you're worried about cost, it's possible your insurance will foot the bill for testing if you're considered high-risk.)
Other variants that can be identified through direct to consumer testing include a tendency toward celiac disease, coronary artery disease, and late-onset Alzheimer's disease, among others. However, having a variant doesn't mean your fate is sealed — it can simply mean you are at a slightly higher risk, up to 10% or so, to develop issues. In many to most cases, Dr. Jorde says, the risks can be mitigated "through a healthy lifestyle — especially with increased exercise and a healthy diet — and a good night's rest."
Another way direct to consumer testing can be vitally helpful — it can notify you about a sensitivity to certain drugs. In some cases, it can let you know that you'd have an adverse - or even fatal - reaction. This sort of personalization, or what Dr. Jorde calls precision medicine, is where he hopes genetics will make a larger and larger contribution to health and wellness.
Precision Medicine
The most precise way to get precision medicine is to opt for the sequencing overseen by medical professionals. If you're thinking that the process, which is much more extensive, will be much more expensive - well, you're right. One company which provides the service, quotes it as costing "less than $1000." Dr. Jorde acknowledges that $1000 is a common price tag for the service.
However, there are a few other factors to weigh into the cost analysis. Coding is completed by medical professionals - who then discuss results with you. Next, if intervention or treatment is needed, you'll have those professionals on-hand to provide immediate, expert advice and opportunities for counseling. Again, if you are considered at-risk, or if your sequencing is ordered by your doctor, there's a good chance insurance could pay.
Testing & Privacy
Of course, when you bring your insurance into it - there's always the question of privacy. Federal law prohibits health insurance companies from adjusting premiums or coverage based on genetic testing through the , or GINA. You should be aware that no such law applies to things like life insurance or long-term disability insurance. These agencies won't have access to your medical records, but they may ask you for the information if you have it.
The Bottom Line
If you're simply curious, a commercial test is probably worth it. The most important thing to keep in mind when you get your results is to thoroughly read the information provided. If you have any questions — talk with your doctor.
A full sequencing will be the better option for those who have specific questions they want answered and for those who are considered high-risk for certain issues. Because the work of decoding that double helix is so complex — you may not get all the answers you want right now. But, according to Dr. Jorde, it's entirely possible that you'll get them later.
"Especially when you get complete sequencing, where you get everything, a certain variant may show up. We may not know what it means now, but in five or ten years we might. The more we learn, the more useful DNA testing becomes."