您可能已经在网上或电视上看到了它们的广告 - 这些基因测试有望帮助您弄清楚您是否与著名的人以及是否有某种疾病的风险有关。您是否曾经想过这些测试是如何工作的，以及它们的效果有多有效？如果有的话，您很幸运。
直接面向消费者（DTC）基因检验都是风靡一时的。有了23andMe和ancestry.com之类的选项，您知道要选择哪一个吗？根据Banner MD Anderson Cancer Center的遗传顾问Jennifer Siettmann的说法，您的选择应取决于您想从测试中获得什么。
In an Ask the Expert column, Siettmann explained theimportance of genetic counseling in helping determine risk for illnesses, such as cancer, heart disease and diabetes. Recently, she also noted that DTC genetic tests have very specific limitations and should never be used in place of comprehensive genetic testing when it comes to determining your risks for serious disease.
How do genetic tests work?
DTC基因检测和基因筛查doctor might order both examine your DNA. To do this, a sample must be collected.
在典型的DTC测试中，您提供唾液样本。订购套件到达后，您使用拭子收集一些吐痰。您密封拭子并将其邮寄回去进行分析，这可能需要4到6周。
可以收集用于临床基因检测的样品，可以收集两种方法之一：唾液样本，例如DTC检测或抽血。Siettmann指出的两者都相同，并且大多数临床实验室都接受。通常在大约2到3周内扭转临床测试。
Analysis and reporting
A DTC test may vary depending on the laboratory, notes Siettmann. While some companies may have geneticists or genetic counselors analyze the results, other do not. Additionally, some laboratories may not have Clinical Laboratory Improvement Amendments of 1988 (CLIA) certification.
“CLIA certification requires that laboratories have set quality and privacy standards for a laboratory to meet, and these certifications are constantly renewed,” Siettmann said.
Additionally, not all DTC laboratories are accurate in what they report. Siettmann explains these labs may be accurate for certain parts of their testing but not others, like raw data analysis.
You may receive the results from these tests online with informational videos or data sheets explaining what the information means. While some companies may have genetic counselors on staff to help with interpretations, most of the interpretation and learning is done by the patient.
临床基因检测情况有所不同，临床基因检测是由Clia批准的实验室的遗传学家和遗传顾问分析的。根据Siettmann的说法，数据是通过严格的质量流程来确保准确性的。
Siettmann说：“这些实验室的遗传学家和遗传咨询师非常努力地确定哪些遗传变异是良性或不引起任何问题，哪些是有害的，可能导致健康问题。”
The report compiled after the testing is completed explains what genes were analyzed, what mutations—if any—were found, and the test specifications. If a mutation or variant is found, the geneticists and genetic counselors will give information on that gene and mutation.
Finally, the provider who ordered the test reviews and interprets the results within the context of your personal and family history.
什么直接消费者的基因检测
DTC基因测试可以告诉您很多事情，但是Siettmann注意到信息往往是肤浅的。例如，它可以帮助您追踪自己的祖先，找出您是否可以品尝香菜或确定咖啡因如何影响您。
“Basically, direct-to-consumer tests are fun and all over the place right now, but they do not replace the genetic testing that a doctor can perform,” Siettmann said. The depth of information a doctor can give you will far outweigh what a DTC genetic test gives you.
A lot depends on the DTC test you choose, according to Siettmann. Some are accurate, CLIA-certified and can be used for healthcare decisions, but most are not. Most of this testing will not be able to be used clinically and usually will not point a physician towards using more accurate testing methods.
Siettmann说：“在某些情况下，特定的DTC需要通过CLIA批准的实验室进行确认测试，但大多数信息旨在为了娱乐。”
什么直接消费者的基因检测n’t do
If you’re thinking of buying a DTC genetic test to determine your risk for a specific disease, you’ll likely be out of luck. And, while genetic counselors are not against DTC genetic tests, Siettmann says they want people to understand what these types of tests can and cannot do.
For example, while one DTC test looks at the BRCA1 and BRCA2 genes—genes which help produce tumor suppressors—the test only looks at three mutations within the gene, explains Siettmann. In reality, thousands of mutations could be present in these genes.
Siettmann指出的另一件涉及阿尔茨海默氏病，心脏病和黄斑变性。某些实验室可能只看单核苷酸多态性（SNP），而不是进行完整的基因序列。一口，对吧？那么，他们是什么？
As Siettmann explains, they are a single nucleotide that is substituted for another within a gene, which leads to a change within that gene. SNPs are usually very common and usually benign; however, they can be associated with certain genetic quirks—like how caffeine affects you or if you can taste cilantro.
“因此，认为这是苹果派的食谱，” Siettmann说。“ SNP会增加额外的肉桂粉或对您使用的苹果类型非常具体，而真正的致病突变就像代替醋代替黄油。”
目前，遗传学家和遗传顾问认为SNP是警告信号，而不是疾病的原因。大多数DTC测试都使用这些基于SNP的阵列，并使数据无法维持的这些SNP产生原因。但是，某些DTC实验室不使用SNP阵列，并且确实提供了完整的测序，有些则使用两者的组合，因此了解实验室使用的内容很重要。
Siettmann说：“我会告诉病人，他们就像路标告诉您要注意掉落的岩石。”“标志不会导致岩石掉落，甚至无法保证岩石会掉落。但是，有一次，岩石落在这个地方，所以现在有一个警告要警告。”
Set your expectations
If you have your heart set on trying a genetic test, make sure you know what you want to get out of it first. The DTC tests can provide basic information, but they won’t answer more serious questions a genetic screening from a doctor can provide.
- 如果您希望测试追溯您的祖先或一些小事，那么直接到消费者的选项可能非常适合您。
- 如果您担心自己患癌症，阿尔茨海默氏病或其他几种主要疾病的风险，那么医生的全基因筛查可能会井井有条。与您的医生谈谈您的选择。
Siettmann的最后建议是要小心。请注意DTC测试公司的所作所为，因为其中一些将您的数据出售给第三方。Siettmann还建议考虑是否对DTC测试进行了CLIA认证，知道谁在报告中签字以及其准确性记录是什么。
“Be a smart consumer and don’t sign up for every DTC that comes across a Google search,” Siettmann said.
