In Florida, a new genetic disease screening program allows parents of newborns to receive free whole genome sequencing at birth, putting the state at the forefront of newborn screening.

在佛罗里达州，一项新的基因疾病筛查项目让新生儿的父母能够在孩子出生时免费获得全基因组测序，使该州处于新生儿筛查的前沿。

The five-year pilot program, created in July via the Sunshine Genetics Act, is paid for by a mix of private and state funding, and requires parents to opt in to have their child tested.

通过《阳光基因法案》于七月创立的五年试点项目，由私人和州政府资金共同资助，并要求父母选择加入，以对其孩子进行测试。

It's the nation's first state-backed genetic screening program.

这是美国首个国家支持的基因筛查项目。

Florida State Rep. Adam Anderson at a press event announcing the passage of the Sunshine Genetics Act.

佛罗里达州众议员亚当·安德森在宣布《阳光遗传学法案》通过的新闻发布会上。

The new law, passed unanimously in the Florida House of Representatives and Senate, was the end result of a tireless campaign through the legislature by Rep. Adam Anderson, the Republican sponsor of the bill.

这项新法律在佛罗里达州众议院和参议院一致通过，是共和党议员亚当·安德森不懈努力推动立法的结果。

For Anderson, whose son, Drew, died in 2019 from Tay-Sachs disease, a rare genetic metabolic disorder, passage of the legislation was more than a political victory; it was affirmation that his decision to run for office will have an impact beyond what he initially envisioned.

对于安德森来说，他的儿子德鲁于2019年因泰-萨克斯病（一种罕见的遗传性代谢紊乱疾病）去世，这项立法的通过不仅仅是一场政治胜利；它更证实了他竞选公职的决定将会产生比他最初设想的更为深远的影响。

Adam Anderson's son Drew.

亚当·安德森的儿子德鲁。

Adam Anderson

亚当·安德森

'When I first agreed to run for office, I never intended on working on rare disease policy,' said Anderson. 'But once I got elected, and I found myself serving on some health-care committees, I realized the impact that we can have, and I also realized pretty quickly the lack of support for the rare disease community that existed in government.'.

“当我最初同意竞选公职时，我从未想过要参与罕见病政策的工作，”安德森说。“但是一旦我当选，并且发现自己在一些医疗保健委员会任职时，我意识到我们所能产生的影响，而且我也很快意识到政府中对罕见病社区支持的缺乏。”

The program aims to sequence the genomes of 100,000 newborns. The bill also establishes the Florida Institute for Pediatric Rare Diseases at Florida State University, and the Sunshine Genetics Consortium, a Florida-based network of universities and hospitals focused on expanding genetic research and testing.

该项目旨在对10万名新生儿的基因组进行测序。该法案还将在佛罗里达州立大学设立佛罗里达儿科罕见病研究所，并建立佛罗里达阳光遗传学联盟，这是一个由佛罗里达州的大学和医院组成的网络，专注于扩展基因研究和测试。

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'The Sunshine Genetics Act is a very exciting, transformative, truly landmark piece of legislation — [it's] wild to think that, because it originated from my scribble notes on a cocktail napkin,' Anderson added. 'It took about eight or nine attorneys to fix what I put on paper and make it actually something that could be voted on and passed, but it's giving Florida a truly once-in-a-generation opportunity to lead the nation in genomic and precision medicine.'.

“《阳光基因法案》是一项非常令人兴奋、具有变革性、真正具有里程碑意义的立法——想到它源于我在鸡尾酒餐巾纸上的潦草笔记，真是不可思议，”安德森补充道。“大约有八九位律师帮我把写在纸上的内容进行修正，才使它成为一项可以被投票和通过的法案，但这为佛罗里达州提供了一个千载难逢的机会，使其在全国基因组学和精准医学领域处于领先地位。”

'Precision medicine,' sometimes referred to as 'personalized medicine,' uses a person's genetics, environment and lifestyle to help guide medical decisions.

“精准医疗”，有时也被称为“个性化医疗”，利用一个人的基因、环境和生活方式来帮助指导医疗决策。

The bill passed through the legislature of a conservative state with overwhelming bipartisan support.

该法案在保守州的立法机构中以压倒性的两党支持获得通过。

'I think folks in other states are a little surprised that Florida beat them to this, which I find personally satisfying,' Anderson said. 'But the reality is we're not competing with these other states, right? This is a framework that I hope other states will adopt. I want other states to bring these kinds of programs there.

“我想其他州的人们会有点惊讶，佛罗里达州竟然抢先做到了这一点，我个人觉得这很令人满意，”安德森说。“但现实是，我们并不是在和其他州竞争，对吧？这是一个我希望其他州也能采用的框架。我希望其他州也能开展这类项目。”

This is not a Florida issue. It's not a New York issue. It's not a California issue.'.

这不是佛罗里达的问题。这不是纽约的问题。这不是加利福尼亚的问题。

The changing testing landscape

不断变化的测试环境

There is no federal law that requires insurers to pay for genetic testing for children without a demonstrated medical need. The Recommended Uniform Screening Panel, a list of disorders the Department of Health and Human Services recommends states screen for as part of the universal newborn screening programs, covers only 38 core conditions.

没有联邦法律要求保险公司在没有明确医疗需求的情况下为儿童支付基因检测费用。推荐的统一筛查小组（Recommended Uniform Screening Panel）是一个由卫生与公众服务部推荐各州在普遍新生儿筛查项目中进行筛查的疾病列表，仅涵盖38种核心病症。

There are thousands of rare diseases that doctors won't check for until a child starts to exhibit symptoms. By then, it's often too late. .

医生通常要等到孩子开始出现症状时，才会去检查数千种罕见疾病。然而到了那时，往往为时已晚。

'So we're trying to really change the course of diagnosis altogether,' said Katherine Stueland, CEO of GeneDx, a genetic testing company that's a partner of the Sunshine Genetics Act and a sponsor of the

“因此，我们正试图彻底改变诊断的进程，”基因检测公司GeneDx的首席执行官凯瑟琳·施特尔兰德说道，该公司是《阳光基因法案》的合作伙伴，也是该法案的赞助商。

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. 'The earlier you diagnose, the earlier you have a world of options that can help prevent disease progression. And so it's unconscionable that it takes five years for anyone to get diagnosed with a genetic disease. That's the average. It's five years today, and we can provide an answer in 48 hours.'.

“越早诊断，就有越多的选择可以帮助防止疾病进展。因此，任何人需要五年时间才能被诊断出患有遗传病，这是不可接受的。今天这个平均时间是五年，而我们可以在48小时内提供答案。”

Some studies have shown that it can take even longer than five years for rare disease patients to get diagnosed. One done by the rare disease advocacy group EveryLife Foundation found that once rare disease symptoms begin, on average it takes more than six years for a patient to receive an accurate diagnosis.

一些研究表明，罕见病患者的确诊时间可能比五年还要长。罕见病倡导组织 EveryLife 基金会进行的一项研究发现，罕见病症状开始出现后，患者平均需要六年以上的时间才能获得准确的诊断。

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And that's more than just lost time. It's also added cost for those families. The same study also looked at associated costs of seven rare diseases and found that families that had a delayed diagnosis spent an additional $86,000 to $517,000 per patient, depending on the disease, because of additional doctor visits, hospitalizations and other health-related trips..

而这不仅仅是时间的浪费，也给那些家庭增加了成本。同一项研究还调查了七种罕见病的相关费用，发现诊断延误的家庭由于额外的看诊、住院和其他与健康相关的行程，每个患者根据疾病的不同，花费增加了86,000到517,000美元不等。

Early whole genome sequencing could help bring those costs down by potentially identifying genetic diseases before they become symptomatic.

早期的全基因组测序可以通过在遗传疾病出现症状之前识别它们，从而帮助降低这些成本。

Meanwhile, the cost of genetic testing has never been cheaper. Stueland said that a decade ago, whole genome sequencing cost tens of thousands of dollars. Today she says her company can do it for about $3,500.

与此同时，基因检测的成本也从未如此低廉。斯图兰表示，十年前，全基因组测序的成本需要数万美元。而今天，她说她的公司可以以大约 3,500 美元的价格完成。

In addition, more insurance plans and Medicaid programs are covering those costs, according to GeneDx. Today 36 states have Medicaid coverage for exome and genome testing, and 17 states cover rapid genome sequencing, GeneDx said.

此外，据GeneDx称，越来越多的保险计划和医疗补助计划正在覆盖这些费用。如今，36个州的医疗补助计划涵盖了外显子组和基因组测试，17个州覆盖快速基因组测序，GeneDx表示。

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Arrows pointing outwards

向外指向的箭头

'I think we've done the hard work to reduce our turnaround times, to reduce our costs, to deliver health economic data,' Stueland said.

“我认为我们已经做了大量工作来减少周转时间、降低成本并提供健康经济学数据，”斯图兰德说。

But as costs have come down and access to tests has expanded, awareness among general practitioners about how and when to deploy them remains low. Many prescribers don't realize that these are tests that can often be done in a pediatrician's office with a cheek swab, and don't think to apply them to their patients..

但是，尽管成本已经下降，检测的可及性也有所扩大，全科医生对如何以及何时使用这些检测的认识仍然很低。许多开处方的医生没有意识到这些检测通常可以在儿科医生的办公室通过脸颊拭子完成，也没有想到将这些检测应用于他们的患者。

But that could be starting to change. In June, the American Academy of Pediatrics updated its guidance to recommend that pediatricians order exome or genome sequencing as the first-line test for patients with global developmental delays or intellectual disabilities. It's the first time AAP has issued updated guidance on the issue since 2014, and could significantly shorten the diagnostic timeline for patients with a rare disease.

但这一情况可能开始发生变化。今年六月，美国儿科学会更新了其指导方针，建议儿科医生将外显子组或基因组测序作为患有全面发育迟缓或智力障碍患者的首选检测方法。这是自2014年以来AAP首次就该问题更新指导方针，有望显著缩短罕见病患者的诊断时间。

GeneDx says it's making a push to make doctors more aware of that updated guidance..

GeneDx表示，它正在努力让医生更加了解这一更新的指南。

'Step one for us is we're really investing in education for pediatricians,' said Stueland. 'We have a massive educational investment to ensure that they know that the guidelines have been updated, and that genetic testing is not going to take months ... it's going to take a matter of days for us to get the information to them, and that insurance is paying for it.'.

“我们的第一步是大力投资于儿科医生的教育，”斯图兰德说。“我们进行了大规模的教育投入，以确保他们知道指南已经更新，而且基因检测不会花费数月时间……我们会在几天内将信息提供给他们，并且保险会为此买单。”

A legacy for Drew

德鲁的遗产

Enrollments in the Florida program, overseen by the Florida Institute for Pediatric Rare Diseases, will begin in March during baby well-check visits at Tallahassee pediatric offices. Early in the second quarter, the program will roll out at Tampa General Hospital, which delivers about 6,000 babies a year, and from there it's expected to grow to larger hospital systems..

由佛罗里达儿科罕见病研究所监督的佛罗里达项目将于三月在塔拉哈西儿科诊所的婴儿健康检查期间开始登记。在第二季度初，该项目将在每年分娩约6000名婴儿的坦帕综合医院推出，并预计从那里扩展到更大的医院系统。

Anderson said that his goal is to scale the program across all of Florida, but he said he's had talks with representatives from other states who are interested in learning more about it.

安德森说，他的目标是在整个佛罗里达州推广这个项目，但他表示，他已经与其他州的代表进行了交流，这些代表有兴趣了解更多关于这个项目的信息。

'Absolutely, it's scalable nationally. Absolutely. We've built it. We have the template for this,' Anderson said. 'It's something that can be done at the state level.'

“绝对可以，它在全国范围内是可扩展的。绝对可以。我们已经建立好了。我们有这个模板，”安德森说。“这是可以在州一级完成的事情。”

'We don't have to wait for the federal government to enact these kinds of policies,' he said. 'It's hard to get things done in [Washington,] D.C. States can be much more nimble, and it just takes a champion.'

“我们不必等待联邦政府来实施这些政策，”他说。“在[华盛顿]特区很难做成事情。各州可以更加灵活，只需要一个倡导者。”

Anderson said that while he hopes Drew would have been proud of him for helping craft the Sunshine Genetics Act, the thought of that is not what's driving him.

安德森说，虽然他希望德鲁会为他帮助起草《阳光基因法案》而感到骄傲，但这并不是他的动力所在。

Drew Anderson with his sisters in 2018.

2018年，德鲁·安德森与他的姐妹们。

Adam Anderson

亚当·安德森

'You know, a lot of times people will say, 'Well, you're doing this for your boy. It's a legacy,'' Anderson said. 'I suppose it is, but I'm doing it for the other kids. That's really what motivates me.'

“你知道，很多时候人们会说，‘嗯，你这样做是为了你的孩子。这是一种传承，’”安德森说。“我想是的，但我是为其他孩子做的。这才是真正激励我的原因。”