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Huge US Study Starts Sharing Gene Findings with Volunteers
龐大的美國(guó)研究開(kāi)始與志愿者分享基因發(fā)現(xiàn)
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是生物細(xì)胞中攜帶遺傳信息的主要分子。超過(guò) 155,000 名為科學(xué)分享 DNA 的美國(guó)人即將學(xué)到一些東西:他們有任何令人擔(dān)憂的基因嗎?
It is part of a very large study to see how people's genetics, environments, and behavior combine to govern their overall health.
這是一項(xiàng)非常大的研究的一部分,旨在了解人們的遺傳、環(huán)境和行為如何結(jié)合起來(lái)控制他們的整體健康。
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.
美國(guó)國(guó)立衛(wèi)生研究院 (NIH) 最近表示,它現(xiàn)在開(kāi)始將一些早期發(fā)現(xiàn)告知參與研究的人員。就像他們攜帶的變異可能導(dǎo)致 59 種遺傳疾病中的任何一種或?qū)е滤幬飭?wèn)題。
Because everyone with the same gene will not have the same health outcome, sharing those results may mean new discoveries.
因?yàn)閾碛邢嗤虻拿總€(gè)人都不會(huì)有相同的健康結(jié)果,分享這些結(jié)果可能意味著新的發(fā)現(xiàn)。
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."
Josh Denny 博士負(fù)責(zé) NIH 的研究,名為“我們所有人”。他問(wèn)道,“這種可變性的驅(qū)動(dòng)因素是什么?”他補(bǔ)充說(shuō),“他們根據(jù)調(diào)查結(jié)果改變行為的方式,我們將能夠看到這一點(diǎn)。”
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.
All of Us 研究是一項(xiàng)前所未見(jiàn)的努力,旨在減少醫(yī)療保健方面的差異并結(jié)束當(dāng)今一刀切的護(hù)理。研究人員的目標(biāo)是跟蹤來(lái)自不同群體的 100 萬(wàn)人至少十年。他們的目標(biāo)是更好地理解決定為什么一個(gè)孩子生病而不是另一個(gè)孩子生病的原因的復(fù)雜組合,或者為什么一個(gè)病人的治愈方法在另一個(gè)病人身上失敗了。
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 樣本、醫(yī)療記錄和健康史。到目前為止,已有大約 560,000 人注冊(cè)。更重要的是,近一半來(lái)自歷史上被排除在醫(yī)學(xué)研究之外的種族和族裔群體。
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.
傳統(tǒng)上,此類研究就像一條單行道——科學(xué)家從志愿者那里學(xué)到很多東西,而志愿者得到的個(gè)人信息很少。但一個(gè)不尋常的舉動(dòng)是,All of Us 志愿者可以在研究結(jié)束之前很久就決定是否要了解與健康相關(guān)的基因發(fā)現(xiàn)。
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.
雷切爾·彼得森 (Rachel Peterson) 是美國(guó)國(guó)立衛(wèi)生研究院 (NIH) 的一名員工,在最近成為該項(xiàng)目的主要成員之前,他曾為我們所有人做志愿者。一位 All of Us 遺傳顧問(wèn)告訴她,由于一種名為 BRCA-2 的基因,她患乳腺癌和卵巢癌的風(fēng)險(xiǎn)增加了。
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."
彼得森不知道這會(huì)給她的家人帶來(lái)風(fēng)險(xiǎn)。她計(jì)劃與她的醫(yī)生討論健康治療,例如增加乳腺癌篩查。她說(shuō):“一想到如果我不知道這件事會(huì)發(fā)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.
Denny 估計(jì) 2% 到 3% 的研究志愿者將了解到他們有一種眾所周知的基因變異,這種變異可能導(dǎo)致某些癌癥、心臟病或其他健康問(wèn)題。更多人的基因變異會(huì)影響他們的身體處理某些藥物的方式。
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,志愿者只會(huì)得到他們可以做些什么的發(fā)現(xiàn),例如尋求更早的測(cè)試或改變藥物治療。他們將獲得免費(fèi)檢測(cè)、遺傳咨詢,并幫助他們與醫(yī)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.
但是還有很多東西要學(xué)。例如,許多與疾病相關(guān)的基因是通過(guò)研究歐洲血統(tǒng)的人發(fā)現(xiàn)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.
貝勒醫(yī)學(xué)院的 Eric Venner 是一位遺傳學(xué)專家。他說(shuō)不同的變體可能會(huì)影響其他祖先。他的團(tuán)隊(duì)正在研究我們所有人的數(shù)據(jù),以了解哪些差異對(duì)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.
丹尼評(píng)論了能夠與可以一起工作數(shù)十年的志愿者交談的力量。如果新發(fā)現(xiàn)影響研究志愿者,“我們將及時(shí)更新,”丹尼說(shuō)。