事件记录
女士: 检查最新的研究，告诉你最新的突破. 《大发娱乐》节目在范围上播出.
面试官: 许多人预测，在短短几年内，了解你的DNA序列将成为医疗保健的常规部分, 但是大发娱乐准备好面对大发娱乐可能发现的大发娱乐自己和大发娱乐未来的东西了吗? 我正在和伦理学家. 杰弗里·博特金研究基因技术的伦理、社会和法律影响. Dr. 博特金，你的基因组测序了吗?
Dr. 杰弗里·鲍: 多好的问题啊. 不，我没有. 我想在不久的将来，我可能不会对自己学习这种信息感兴趣.
面试官: 这是一个有趣的答案. 这是为什么？?
Dr. 杰弗里·鲍: 好吧, 观察性格的变化是很有趣的, and what we found through research is that depending on the nature of the genetic test there's quite a spectrum of responses to the basic question of do you want to know that information or not? I think there's folks who are information seekers who are eager to grasp any information they might find and those of us, 也许是对我自己的描述, 他们往往对信息更谨慎，对探索一些细节不太感兴趣.
面试官: 遗传学真的不是非黑即白的. 并不总是有一些突变就会得那种病. 通常情况下比这更微妙. 大发娱乐准备好处理这类信息了吗?
Dr. 杰弗里·鲍: 大发娱乐现在看到了这些信息，可能会引发大洪水. 现在有技术可以让大发娱乐以相当低的成本了解大发娱乐的整个基因组序列. 人们预计成本会下降. 所以这些正是大发娱乐现在在临床领域面临的问题.
These have been research issues to a large extent in recent years but now they're emerging into the clinical realm. 所以你完全正确，基因信息是概率性的. 它通常不会给你一个确定的答案，告诉你你的健康可能会发生什么. 这是复杂性的一个重要因素.
另一方面是道德的来源, 法律, and social issues is that oftentimes at this point in history there's little that you can do with that information that will make a definitive difference in your healthcare outcome. 现在，病人们拿出自己的基因图谱，问他们的临床医生：“那现在怎么办? 我现在该怎么办?显然，初级保健大发娱乐提供者正在努力解释这些信息.
通常, 他们必须建议患者改变生活方式，这可能有助于降低他们的风险. In certain circumstances with certain types of testing there may be significant surgical interventions that may reduce long-term risk but those are the sorts of difficult value laden decisions that are all part of the genetic testing sequence right now.
面试官: 我想知道你能否给出一个具体的例子，说明人们知道他们的基因组信息是有大发娱乐的.
Dr. 杰弗里·鲍: 确定. I think probably one of the most compelling examples now is one that really arose out of research here at the University of Utah. 这与BRCA1检测，女性乳腺癌和卵巢癌的易感性有关. It has some health implications for men but for the most part women who are carriers of a mutation in this gene have a substantial increase of breast and ovarian cancer through their life.
It was hoped that that information would provide critical clues on breast and ovarian cancer in general and it's helped in that regard but it hasn't led to targeted therapies. What it has led to is the ability of people to begin early detection measures at a younger age than otherwise would be indicated, and it's allowed folks to take a surgical approach if they're at high risk to substantially reduce their risk of disease.
女性可以进行预防性乳房切除和预防性卵巢切除. 这并不能完全消除他们的风险，但已经很接近了. 安吉丽娜朱莉, 当然, is the prime public example of that phenomenon but that's been enormously helpful to families who are found to be mutation carriers. 这是可以确定的事情，尽管涉及到手术干预的繁重性质.
面试官: 选择乳房切除术是一个相当激烈的选择. 是什么促使人们做出这样的选择?
Dr. 杰弗里·鲍: I think having had the experience of a mother dying of cancer is oftentimes the prompting experience that tips people in the direction of that sort of drastic measure. 虽然这些措施在降低风险方面非常有效, 我认为这也说明了这个领域是多么的不发达.
The hope is that in 20 years or so we'll have much more sophisticated ways to manage the lack of function of that particular gene, perhaps gene transfer studies where new genes could be inserted into the system or perhaps different biochemical ways to enhance function of that genetic pathway that will reduce risk without these sorts of drastic measures.
So the hope is that having this basic understanding about how the human body works and how it doesn't work in some circumstances will provide those clues in much more sophisticated and elegant ways to treat or prevent these conditions will be possible in the next 15, 20, 或者30年. Right now we're stuck with predictive knowledge but oftentimes not the power to influence the course of disease that we would really like.
面试官: 我认为另一个问题是有很多, 很多大发娱乐不知道的疾病是由基因变异引起的. 所以如果大发娱乐现在有了基因组信息它能给别人, 说, 一种错误的安全感，认为他们将来不会患上某些疾病? Could there even be a situation where somebody sues their physician because they do develop a disease even though their genetic test said that they probably wouldn't?
Dr. 杰弗里·鲍: 是的. 我认为这些都是严重的问题. Once you move out of the domain of sort of single gene or so-called Mendelian inheritance types of conditions like BRCA1, 然后是常见的乳腺癌和卵巢癌, 例如, 大多数疾病的常见形式都与心脏病有关, 阿尔茨海默氏症, 糖尿病不是由单一基因引起的，你可以针对它进行检测. 它们是由许多基因和环境非常复杂的相互作用造成的.
大发娱乐对这些复杂的相互作用是如何发生的知之甚少. So simply testing someone for a panel of genes gives very crude and partial information about their long-term risk that, 一方面，一方面, 即使它是准确的，也可能没有特别的大发娱乐. 另一方面, 很有可能它不准确，因为大发娱乐没有足够的信息来真正解释.
So there's lots of concern about some of the common panel testing availabilities that are out there now because of the possibility of providing false or misleading information and leading folks to believe perhaps that they're at less risk than they really are for certain conditions or at increased risk for conditions for which they really aren't that increased risk. 因此，在科学的这个阶段，错误信息的前景确实存在问题.
面试官: 在这一点上，是否有任何指导方针或法律来保护医生或患者?
Dr. 杰弗里·鲍: The FDA has had the authority to rule on the safety and efficacy of genetic tests for many years but has not been active in this particular domain. 但近年来，他们采取了更为积极的立场. They recently closed down 23andMe's genetic testing capabilities several months ago due to concerns around the accuracy and validity of the information that was being provided.
So I do think that that heralds a new age in which we may have more scrutiny over these sorts of tests to try to assure that the public is receiving as accurate an information set as we can provide at this stage.
面试官: 你认为未来最大的争论点是什么?
Dr. 杰弗里·鲍: 从我作为儿科医生的角度来看, I think the testing of children is going to remain a highly controversial area because kids can't make choices for themselves. We need to be careful about generating information on children that may impact how the kids view the world and how the world views those kids.
类似的, 更有争议的是, 我想大发娱乐会在产前领域使用这些技术. 当然, 终止妊娠是一个长期存在的社会争议，这将是其中的一个因素, 但这也与大发娱乐想要了解孩子的程度有关? How might it change the parent-child relationship to have fairly extensive information about the nature of your child? 这些都是很难学习的东西. 这是大发娱乐需要注意和谨慎的事情.
女士: 有趣，内容丰富，而且都是为了更好的健康. 大发娱乐是Scope健康科学广播.