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, 好吧, 双螺旋, so it's smart to go in armed with information. Lynn Jorde博士, the University of Utah School of Medicine's Chair of the 人类遗传学系, 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测试
You have dozens of options when it comes to DNA testing, 但在最简单的分解中, sequencing options come in two different forms, 医疗和直接面向消费者.
Health 和 好吧ness-related medical sequencing tests 是 ordered, administered 和 reported to you with support from medical professionals.
In the direct-to-consumer realm (tests you order, 带回家, 并自行解释), 有 祖先的 和 健康 options, 和 prices start as low as $30. Dr. Jorde的电话 these tests "recreational genomics" 和 says results 是 interesting - but definitely pretty limited.
休闲基因组学
记住这一点，好了 是 many things you can learn from a direct to consumer test, 和 Dr. Jorde说 they can prove to be valuable — 和 even life-saving. 这包括 fda批准 testing for whether you carry one of three BRCA1 和 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, 期. 在BRCA变异的情况下, he recommends a trip to a breast cancer clinic to have a full gene sequencing done. (如果你担心成本, 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, 冠状动脉疾病, 以及晚发性阿尔茨海默病, 等. 然而, having a variant doesn't mean your fate is sealed — it can simply mean you 是 at a slightly higher risk, 高达10%左右, 发展问题. 在很多甚至大多数情况下，奥巴马都是这样做的. Jorde说, the risks can be mitigated "through a 健康y lifestyle — especially with increased exercise 和 a 健康y diet — 和 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的电话 精度 医学, is where he hopes 遗传学 will make a larger 和 larger contribution to 健康 和 好吧ness.
精密医学
The most precise way to get 精度 医学 is to opt for the sequencing overseen by medical professionals. If you're thinking that the process, 哪个范围更广, 会贵得多，对吧, 你是对的. One company which provides the service, 真理, quotes it as costing "less than $1000." Dr. Jorde acknowledges that $1000 is a common price tag for the service.
然而, 有 a few other factors to weigh into the cost analysis. Coding is completed by medical professionals - who then discuss results with you. 下一个, if intervention or treatment is needed, you'll have those professionals on-h和 to provide immediate, expert advice 和 opportunities for counseling. 再一次。, 如果你被认为有危险, or if your sequencing is ordered by your doctor, there's a good chance insurance could pay.
测试 & 隐私
Of course, when you bring your insurance into it - there's always the question of privacy. Federal law prohibits 健康 insurance companies from adjusting premiums or coverage based on 基因检测 through the Genetic Information Nondiscrimination Act，或GINA. You should be aw是 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.
底线
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 和 for those who 是 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. 但是，根据Dr. Jorde, it's entirely possible that you'll get them later.
"Especially when you get complete sequencing, 在那里你可以得到一切, 可能会出现某种变体. 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."