Precision medicine

When Ramin Homayouni, Ph.D., 制定, often he would take ibuprofen for inflammation and pain, and simply accepted that it would cause discomfort in his stomach.

Somewhere along the line, Homayouni also developed a gluten allergy.

然而，通过基因筛选，直到去年他才将这两种情况联系起来.

“It turns out I can’t metabolize ibuprofen, so for years I’ve been overdosing on it,Homayouni说, 他是牛津大学基础医学研究系的教授，也是该校基础医学研究系的创始主任 Population Health Informatics program.

“I was wrecking my gut,” 他说. “If your gut is compromised, 食物渗漏到血液中，你就会对食物产生抗体，这很可能就是我对麸质过敏的原因.”

如果Homayouni早知道他的基因不允许他代谢布洛芬和其他非甾体抗炎药(NSAIDs), he could have found other ways to treat his pain. Likely he wouldn’t have had the discomfort in his stomach, nor would he have developed the gluten allergy.

简而言之, 基因筛查可以改善Homayouni的生活质量——这种改善, 他说, many others could enjoy with the added benefit of keeping health care costs down.

这就是为什么Homayouni和许多其他合作伙伴正在进行两个主要的基因测序研究项目，这两个项目属于被称为精确健康的范畴.

其中一个项目——BabySeq2——旨在首次对健康新生儿进行全面测序. 这个想法是尽快发现婴儿的遗传疾病，以解决任何已确定的疾病. (见侧栏，"BabySeq2: Improved health outcomes for infants and their families”)

另一个项目——精确健康——是针对成年人的，旨在检测与心脏病有关的基因, 癌症, and other types of treatable medical conditions. (见侧栏，"Precision Health: A healthier and more equitable future through genetic screening”)

“我们可以确定临床可治疗或可采取行动的疾病……我们可以改善医疗保健,Homayouni说.

为什么是现在?

Genes are made up of DNA, which consists of long strands of four nucleotide bases: adenine (A), 胸腺嘧啶(T), 胞嘧啶(C), 鸟嘌呤(G). 人类基因组是60亿个核苷酸的独特组合，编码超过20个,000个基因决定了器官和细胞的功能以及彼此之间的相互作用. 

对一个人的DNA进行测序，可以让科学家们识别出导致癌症等疾病的基因突变，或与之相关，并可能为医生提供个性化的精准医疗打开大门.

The first attempt to map and sequence the human genome began in 1990.

一组国际研究人员承担了这项名为“人类基因组计划”的项目. 到2003年这个序列完成的时候——仅仅是为了一个人——已经花费了超过10亿美元. It was funded by the National Institutes of Health and other agencies.

Today, two factors have made gene sequencing more feasible.

One, the private sector has taken interest, and costs have plummeted.

“Now we can sequence an entire human for approximately $1,000,Homayouni说.

The other big difference is that technology has improved.

“The accuracy of the technology is now clinical grade,Homayouni说.

Because of the reduction in costs and improvement in technology, 人类基因组测序现在提供了Homayouni所说的“可操作的”信息——这就是OUWB参与的两个大项目进入图片的地方.

The benefits to OUWB

There are several benefits to OUWB for being involved with the projects.

首先也是最重要的, they align directly with OUWB’s mission, 愿景, 和价值观, says Richard Kennedy, Ph.D., associate dean for 研究, OUWB. 肯尼迪还担任密歇根州东南部科雷威尔健康中心博蒙特研究所的副总裁兼主任.)

也, 肯尼迪说，这些项目也“很好地代表了(OUWB和Corewell Health)之间的合作可以为进一步的医疗服务提供什么。.”

Homayouni对此表示赞同，并说这是一个很好的例子，说明“学术和研究追求如何能够直接帮助患者和卫生系统”.”

It’s the kind of value, 添加Homayouni, 这有助于将卫生系统定位在精准健康运动的前沿，并推进其人口健康和基于价值的医学的使命. 能够在疾病变得复杂和慢性之前识别和治疗疾病, 提高患者的生活质量，同时有助于降低护理总成本.

Homayouni说:“我们的研究直接影响了他们在临床护理方面的工作。.

也, 它增加了开放式大学教职员工和学生正在进行的越来越多的研究，并提供了与其他机构合作的机会.

The Precision Health project, 例如, started as a quality improvement pilot, 但是创造了一个独特的成年患者队列，他们可以被纵向跟踪，以解决各种研究问题，从健康差异到卫生保健提供者是否愿意在各自的领域解释遗传信息.

其中许多研究可能涉及牛津大学商学院的医学生，并为他们的顶点项目(Embark研究)提供基础,Homayouni说.

除了, 这些研究的结果可以整合到医学教育课程中，以培养下一代医生.

“路漫漫其修远兮”

For all the promise of genome sequencing, hurdles do exist, according to Kennedy.

一是成本. 例如，为成年人设计的基因筛查项目的价格在300至350美元之间. (Grants have covered costs for participants so far.)

此时此刻, Kennedy says insurance companies are not inclined to cover the procedures, especially when there is the risk of additional testing and costs that will result. He does expect the companies to eventually see the positive impact.

他表示:“问题只是经济方面需要多长时间才能接受它。.

肯尼迪指出的另一个问题是，许多人根本不想让他们的遗传信息记录存在. 担忧包括对可保性的潜在影响和/或采取“无知是福”方法的愿望.

基因组测序的成本和担忧可能会导致医疗保健方面的差距进一步扩大, 肯尼迪说.

And yet another issue, 他补充说, 医学生和住院医生还没有接受过“如何处理这类数据”的培训吗.”

Still, Kennedy says he does see a day where genome sequencing will be scalable.

“I do think that 10 years from now it will be more the norm than it is now.”