事件记录
面试官: 也许你听说过这个词, genome sequencing; what exactly is it and should we all be demanding that we have it done?
播音员: Examining the latest research and telling you about the latest breakthroughs, 科学与研究秀在the Scope上播出.
面试官: 我和温迪·科尔曼在一起, a genetic counselor at the Huntsman Cancer Institute at the University of Utah. Ms. Kohlmann, describe what genome sequencing is and how it's different from say a routine genetic test.
Ms. 那些: Genome sequencing refers to really evaluating the genetic code of our entire genome. We kind of think about genome sequencing, and there are two different types. 一个是大发娱乐所说的外显子组. That would be analyzing the genetic code of really just the areas of our genetic material that contain genes. 在所有这些基因之间有很多填充遗传物质, 所以有第二种技术叫做全基因组测序, 包括分析所有的东西, 包括特定基因之外的区域.
面试官: And we're learning more and more that this so-called filler DNA is actually important as well.
Ms. 那些: 是的，大发娱乐认为是的. So that's why some clinical and research applications are looking even more broadly.
面试官: 你认为这在未来会变得越来越普遍吗, 病人将拥有他们的整个基因组或外显子组序列?
Ms. 那些: 基因检测技术正在迅速发展. In the past we used to very carefully evaluate families and try to pick the best gene that we thought fit what maybe was going on with the particular patient or a particular family history, 因为测试一个基因是非常昂贵的. Technology is now making it so it's possible to sequence the whole exome or whole genome now for a few thousand dollars as opposed to the billion dollars that it took to do the first whole genome sequence. You may have heard this mentioned before, we're moving toward the idea of the thousand-dollar genome.
面试官: 正确的.
Ms. 那些: 但随之而来的是百万美元的解释. So actually analyzing all of that data and making meaningful sense of all the millions of variations that there are between humans and figuring out the ones that actually are providing meaningful information about that person's health, that's really where the challenge of implementing this technology into actual clinical care comes into play.
面试官: 基因组测序在这一点上是保险承保的吗? 你知道吗？?
Ms. 那些: 在某些情况下我可以. The first area that was really introduced into clinical care was in a pediatric setting, where we can have very sick newborns where time is crucial in making a diagnosis. 在这个过程中, 也许是这个基因, 也许是那个基因, 也许是那个基因; that's just a luxury that those babies don't have. And so whole exome or whole genome sequencing might be an approach to trying to as quickly as possible evaluate the child to see if a genetic cause of their illness could be identified.
总的来说，所有基因检测的覆盖范围都有点面面俱到. 大发娱乐有一些保险公司愿意承保基因检测. 还有一些人甚至排除了非常完善的测试. So I think with whole genome or whole exome sequencing the coverage will depend on if that's something covered by the plan, then also if a good case can be made as to why that expensive of a test is really the best approach for that situation.
面试官: And you would think that it could be a good thing to have your whole genome tested. 毕竟，知识就是力量，对吧?
Ms. 那些: 我大体上同意这种说法. 我认为知识就是力量, but I think that there are a lot of misunderstandings about what our genetic code can tell us about ourselves. 并不是说你有基因A就等于未来的B. 实际情况要复杂得多. And we are still so in the beginning stages of identifying and understanding all the genetic factors that contribute to disease. What if a change is found in a gene that predisposes to cardiovascular disease? But what if you have a variation in another gene that is associated with being protective against cardiovascular disease? 这两个结果对任何人来说意味着什么?
It's not that a genetic code comes with this roadmap of at 65 you'll get a colon polyp and at 70 you'll have a heart attack. 它比那要模糊得多. And right now it's a lot of money to spend on something that is likely to provide information that we really can't interpret or actually put into action at this point.
面试官: 你还想说的是肿瘤测序. Can you explain what the difference is between sequencing a tumor and sequencing an individual's DNA?
Ms. 那些: Genetic testing technology; we often think of it being used to make a diagnosis in a person or to help predict who is at risk for diseases. But genetic testing can also be used in other settings and one of the areas that we're using it more and more frequently is in the area of cancer. 所有的癌症都是由一系列的基因突变引起的. And so while we may think of something as being breast cancer or colon cancer, every cancer is actually a little bit different because of the different pathways of mutations occurred to create that cancer.
The same technology that I was describing to look at whole genomes or exomes or panels of targeted genes is now being applied to tumors to help more specifically say not just is this a breast cancer, 但究竟是哪种类型的乳腺癌. 发生了什么突变, and by looking at those mutations and knowing what role they are playing in a cell can we then pick a specific chemotherapy that may work better for this person. 所以这是一个新领域，这项技术真正被应用, and an exciting area where the hope is more personalized and more effective cancer treatments.
But just like I was saying with using this testing for predicting disease risk, 仍然存在局限性, 你知道. When we look at so many changes we don't necessarily know what every change is doing in the cancer cell. We don't always have a chemotherapy that may be targeting that particular mutation. 但这无疑是基因技术的一个发展领域.
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