DNA is the main molecule that carries genetic information in the cells of living things. More than 155,000 Americans who shared their DNA for science are about to learn something in return: Do they have any worrisome genes?
DNA是生物细胞中携带遗传信息的主要分子。超过15.5万名为科学分享DNA的美国人即将了解到一些东西:他们是否有令人担忧的基因?
It is part of a very large study to see how people's genetics, environments, and behavior combine to govern their overall health.
这是一项非常大的研究的一部分,旨在了解人们的遗传基因、环境和行为是如何结合在一起来影响他们的整体健康的。
The National Institutes of Health (NIH) said recently it is now starting to tell those in the study about some early findings. Like if they carry variants that can cause any of 59 genetically passed down diseases or cause medication problems.
美国国立卫生研究院最近表示,其现在开始将一些早期发现告知那些参与研究的人。比如,他们携带的变异基因可能会导致59种遗传疾病中的任何一种或者导致药物问题。
Because everyone with the same gene will not have the same health outcome, sharing those results may mean new discoveries.
因为拥有相同基因的每个人都不会有相同的健康结果,分享这些结果可能意味着新的发现。
Dr. Josh Denny heads the NIH's study, called "All of Us." He asked, "What are the drivers in that variability?" And he added, "The way they change their behaviors in response to the findings, we'll be able to look at that."
乔什·丹尼博士是美国国立卫生研究院这项名为“我们所有人”的研究的负责人。他问道:“这种可变性的驱动因素是什么?” 他还说,“他们根据研究结果改变行为方式,我们将能够看到这一点。”
The All of Us study is a never-before-seen effort to reduce differences in healthcare and end today's one-size fits all care. Researchers aim to follow 1 million people from different groups for at least ten years. Their goal is to better understand the complex combinations of reasons that decide why one child gets sick and not another, or why a cure for one patient fails in another.
“我们所有人”是一项前所未有的研究,旨在缩小医疗保健方面的差距并结束当今一刀切的医疗保健。研究人员的目标是对来自不同群体的100万人进行至少10年的跟踪调查。他们的目标是更好地理解复杂的原因组合,这些原因决定了为什么一个孩子生病而不是另一个孩子生病,或者为什么一个病人的治疗方法在另一个病人身上失败了。
Volunteers share DNA samples, medical records and health history. About 560,000 have signed up so far. And more importantly, nearly half are from racial and ethnic groups historically left out of medical research.
志愿者分享DNA样本、医疗记录和健康史。到目前为止,约有56万人报名参加。更重要的是,近一半人来自历史上被排除在医学研究之外的种族和民族群体。
Traditionally, such studies are like a one-way street - scientists learn a lot from volunteers who get little personal information in return. But in an unusual move, All of Us volunteers get to decide if they want to learn health-related genetic findings, long before the study's finished.
传统上,此类研究就像一条单行道——科学家从志愿者那里了解到很多东西,而志愿者得到的个人信息却很少。但一个不同寻常的举动是,“我们所有人”的志愿者都可以在研究完成之前很久就决定他们是否想要了解与健康相关的基因发现。
Rachel Peterson is an NIH employee who volunteered for All of Us before recently becoming a leading member of the project. An All of Us genetic counselor informed her that she was at increased risk of breast and ovarian cancer because of a gene named BRCA-2.
雷切尔·彼得森是美国国立卫生研究院的一名员工,在她最近成为该项目的主要成员之前,她曾为“我们所有人”做过志愿者。 “我们所有人”的一位遗传顾问告诉她,由于一种名为BRCA-2的基因,她患乳腺癌和卵巢癌的风险增加。
Peterson did not know that was a risk for her family. She plans to discuss health treatments with her doctor, such as increased breast cancer screening. She said, "I kind of shudder to think about what could happen if I hadn't known this."
彼得森不知道这对她的家人来说是一种风险。她计划与医生讨论健康治疗方法,比如增加乳腺癌筛查。她说:“一想到如果我不知道会发生什么,我就不寒而栗。”
Denny estimated two to three percent of study volunteers will learn they have a well-known genetic variant that can cause some cancers, heart conditions, or other health problems. Many more will have genetic variants that affect how their body processes some medicines.
丹尼估计,2%到3%的研究志愿者将会了解到他们拥有一种众所周知的变异基因,这些变异基因可能会导致某些癌症、心脏病或其他健康问题。更多的人会有变异基因,而这会影响他们的身体处理某些药物的方式。
For now, volunteers will only be given findings they can do something about, such as seeking earlier testing, or changing medications. They will be offered free testing, genetic counseling, and help with sharing the information with their doctors and family members.
目前,志愿者只会得到某些让他们采取措施的研究结果,比如寻求更早的测试或者更换药物。他们将会获得免费的测试、遗传咨询,并帮助他们与医生和家人分享信息。
But there is a lot more to learn. For example, many of the disease-linked genes were discovered by studying people of European ancestry.
但还有很多东西需要了解。例如,许多与疾病相关的基因是通过研究欧洲血统的人发现的。
Eric Venner of Baylor College of Medicine is a genetics expert. He said different variants may affect other ancestries. And his team is studying the data from All of Us to see which differences matter most to which populations.
贝勒医学院的埃里克·文纳是一位遗传学专家。他说,不同的变异可能会影响其他祖先。他的团队正在研究“我们所有人”的数据,以了解哪些差异对哪些人群最重要。
Denny commented on the power of being able to talk to volunteers who they could work with for tens of years. If new findings affect study volunteers, "we're going to keep things up to date," Denny said.
丹尼评论了能够与可以一起工作数十年的志愿者交谈的力量。丹尼说,如果新发现影响研究志愿者,“我们将会及时更新。”
I'm Gregory Stachel.
格雷戈里·斯切尔报道。
DNA is the main molecule that carries genetic information in the cells of living things. More than 155,000 Americans who shared their DNA for science are about to learn something in return: Do they have any worrisome genes?
It is part of a very large study to see how people's genetics, environments, and behavior combine to govern their overall health.
The National Institutes of Health (NIH) said recently it is now starting to tell those in the study about some early findings. Like if they carry variants that can cause any of 59 genetically passed down diseases or cause medication problems.
Because everyone with the same gene will not have the same health outcome, sharing those results may mean new discoveries.
Dr. Josh Denny heads the NIH's study, called "All of Us." He asked, "What are the drivers in that variability?" And he added, "The way they change their behaviors in response to the findings, we'll be able to look at that."
The All of Us study is a never-before-seen effort to reduce differences in healthcare and end today's one-size fits all care. Researchers aim to follow 1 million people from different groups for at least ten years. Their goal is to better understand the complex combinations of reasons that decide why one child gets sick and not another, or why a cure for one patient fails in another.
Volunteers share DNA samples, medical records and health history. About 560,000 have signed up so far. And more importantly, nearly half are from racial and ethnic groups historically left out of medical research.
Traditionally, such studies are like a one-way street - scientists learn a lot from volunteers who get little personal information in return. But in an unusual move, All of Us volunteers get to decide if they want to learn health-related genetic findings, long before the study's finished.
Rachel Peterson is an NIH employee who volunteered for All of Us before recently becoming a leading member of the project. An All of Us genetic counselor informed her that she was at increased risk of breast and ovarian cancer because of a gene named BRCA-2.
Peterson did not know that was a risk for her family. She plans to discuss health treatments with her doctor, such as increased breast cancer screening. She said, "I kind of shudder to think about what could happen if I hadn't known this."
Denny estimated two to three percent of study volunteers will learn they have a well-known genetic variant that can cause some cancers, heart conditions, or other health problems. Many more will have genetic variants that affect how their body processes some medicines.
For now, volunteers will only be given findings they can do something about, such as seeking earlier testing, or changing medications. They will be offered free testing, genetic counseling, and help with sharing the information with their doctors and family members.
But there is a lot more to learn. For example, many of the disease-linked genes were discovered by studying people of European ancestry.
Eric Venner of Baylor College of Medicine is a genetics expert. He said different variants may affect other ancestries. And his team is studying the data from All of Us to see which differences matter most to which populations.
Denny commented on the power of being able to talk to volunteers who they could work with for tens of years. If new findings affect study volunteers, "we're going to keep things up to date," Denny said.
I'm Gregory Stachel.
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Words in This Story
variant - n. something that is different in some way from others of the same kind
response - n. something that is done as a reaction to something else
sample - n. a small amount of something that gives you information about the thing it was taken from
counselor - n. a person who provides advice as a job
ovary - n. one of usually two organs in women and female animals that produce eggs and female hormones
shudder - v. to shake because of fear or cold
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