Editor's note: With the split investment in Grail and Helix, and the addition of CEOs who are proficient in software, Illumina has set out to make genes a more important role in people's lives. The first part introduced the reader to how Illumina established its position in the field of gene sequencing. The next part will reveal the current challenges and opportunities for Illumina. The importance and value of genomics will be tapped, which will inevitably produce great economic value.
The article was compiled from FastCompany, author Christina Farr, Lei Fengwang (search "Lei Feng network" public number attention) compiled without permission shall not be reproduced.
Illumina's instrument called "the HiSeq X Ten" sells for more than $10 million
| Throughout Life and Death Gene Sequencing
"Today, in the field of genetics and rare diseases, the importance and value of genomics to mining, and produce economic value." Associate Professor of Medical Genetics and Stanford University, a rare disease expert Euan Ashley said. “Whether it is inside or outside Illumina, there is little controversy about this and people have reached a consensus.â€
Illumina has played a significant role in these areas by selling sequencing tools to researchers and clinicians who study and treat diseases from time to time. But a little-known fact is that Illumina's scientists are working on the development of rare and occasional disease cases, one of which is the group of children with debilitating conditions, and the treatment of this condition has not progressed in the traditional field.
In the company's self-service cafe restaurant, Ryan Taft, senior research director of Illumina, shares the story of a former patient who had a mysterious disorder of the central nervous system. The Australian boy, Massimo, lost his ability to eat and crawl during his toddler days. The boy’s father turned to Illumina after realizing that the disease may have been inherited.
After Massimo became his father and mother, the world’s 45th person had his own gene sequencing at Illumina. The principle seems simple. Massimo is not as healthy as his parents. It also means that there are some genetic mutations. Taft then explained that he had to perform 30 to 40 tests on the family's genome sequence to make sure there were no errors, that is to say that each person had about 120 billion pairs of sequences tested.
We collected a large number of potential culprit samples to find mutations in pairs, hoping that DNA sequencing eventually finds potential clues. "It's like finding the right needle in a pile of needles," Ashley said.
Taft is also a computer scientist who has exhausted some of the existing open source framework algorithms (these are the sample-to-answer informatics tools that Illumina has established for clinicians) and found that there is a mutation in Masimo's genome. Can explain his symptoms. To test the theory, Taft set out to find other children with Masimo-like genes and determine their sequences. After investigating the basic data of MRI Biobanking, the Taft and Massimo families found nine other children with similar symptoms in the United States and Europe, and eventually diagnosed the child with a new type of disease called HBSL.
Taft is now doing its utmost to lead a company's internal clinical trials in special cases and temporary cooperation projects with rare disease researchers. "This is just a small attempt, but we want to participate and try to solve these medical problems."
Also because of genomics, Ashley and other rare diseases experts expect that the library of diseases related to genetic fundamentals will be greatly expanded. "Based on specific mutations, different diseases will be treated differently; drugs will have more influence, and our trials will be even more successful." US National Health Research Institute, Unknown Diseases Group, US$7.2 million Chief researcher Ashley said.
Difficulties are not non-existent, such as sorting out all the data generated by the sequencing process, and making a meaningful selection of clinical diagnostics in all arguments.
For Illumina, the leap from hardware to software and services is not technically easy. Serge Saxonov, CEO of 10 X Genomics and co-founder of 23andMe, said, “Companies have DNA based on their start.†Software services require different skill sets and new ways of thinking. â€
However, whether it is your laptop or Illumina's sequencing equipment, the computer hardware will only become more valuable if it is loaded with software that makes it more useful. Illumina needed to expand its product line and tap into the larger clinical and home markets, and even if it did just that, the company’s new chief executive was under pressure.
At a recent UBS summit in Park City, Utah, deSouza published his plan to integrate software into a sequencing device, rather than sell the device alone. At lunch, deSouza revealed that his hiring is partly due to his experience in developing security software products.
One risk project currently under development is called BaseSpace, which is also a cloud computing software tool that provides translation of genetic data for company instruments.
The company also invested $100 million in Helix software, led by former founder of MapMyFitness, Robin Thurston. The idea behind Helix borrows from Apple’s app store and works with well-known brands to turn genomics into a targeted, personalized application model. Using applications developed by a nutrition company, customers can quickly calculate how quickly they metabolize caffeine. Helix makes the customer's genomic data and stores it in a centralized manner. The nutrition company provides the report back to the user.
"From the market point of view, this brand will take up the heavy responsibility," Flatley explained. Because of this, Helix's team expects that the number of people involved in gene sequencing will increase significantly. Thurston predicts that the number of participants in this sequencing may even reach 90% within 20 years.
Another significant factor is that genomic data is not delivered to customers at one time; instead, each specific question has a corresponding answer, and Helix's brand partners have developed a series of new applications for this purpose.
It depends on Helix's large-scale cooperation network, in which customers can repeatedly get confirmation about their genome problems. For the first time, Helix has subsidized the cost of the entire gene sequencing exome so that customers can query it repeatedly during their lifetime. Another difference from consumer genetics applications (such as 23andMe) is that Helix provides exome sequencing, which is more expensive than the traditional "genotyping" method but also provides more information.
"This will be the first extensive in-depth gene sequencing test for the consumer market," Thurston said.
“We have found Helix's idea to be very interesting and interested in how this company uses their platform.†When asked if 23 and Me would have Helix as a competitor at this stage, a spokesperson from 23andMe That is to say. "This also confirms our confidence in the genetic consumer market that we have created for a decade.
Later this year, Helix expects to launch its first customers, including Mayo Clinic, LabCorp, and Duke University.
Illumina Scientists Want to Expand Footprint to Clinical Medicine and Consumer Market
| I'm sure this is the future
In 2015, the White House disclosed its $215 million "Precision Medicine Act, which is mainly used to tackle cancer.
This basic premise is that each tumor has a different set of mutations, and based on the currently discovered mutations, new treatments can be designed, and each patient can thus obtain a personalized treatment plan from the doctor. "The world of cancer has changed dramatically," said Maurie Markman, medical doctor at the American Cancer Treatment Center, a doctor and ovarian cancer researcher. "I have been doing research for more than 30 years. Although I am a very conservative person, I believe this is the future."
Illumina seems to have reached an agreement: The other $100 million derivative investments are prepared to focus on the first FDA approved cancer screening test. An independent company called Grail will actively test the earliest signs of cancer in patients so that they can be treated before the disease worsens. The method is to take a high-resolution snapshot of the gene slice of the dying tumor cells in the patient's blood circulation. Such tests have been used for the monitoring of patients diagnosed with cancer but cannot be diagnosed at an earlier stage.
The above items also led Illumina to attract Jeff Huber from Google as CEO of Grail. In November last year, Huber lost his wife with advanced colon cancer. "It's no different from death sentence for me," he said.
After shifting Illumina's executive directorship, Flatley oversaw the advancement of the bill. He is confident that the new company can overcome many technical challenges - of course, the test requires a high degree of accuracy, or clinically misleading patients. Flatley boasts that Illumina is the only company in depth and breadth of gene sequence technology companies. "The market is like a moon landing plan, but the technology is not."
By 2017, Grail’s goal will be “the most conceptually clinical trial,†Flatley said, while screening products approved for listing in 2019 will be listed for less than $1,000. Both Bill Gates and Jeff Bezos’ Bezos Expedition have funded the project and its potential market size has been touted as between US$20 billion and US$40 billion.
If both Grail and Helix are successful, more people will get their DNA for the rest of their lives. It is no surprise that Illumina’s end goal is internally called “Let the gene be everywhereâ€. Its vision is to make everyone's genetic sequencing journey through life and death, and commonplace.
"I think many of us, including myself, can imagine a future in which genetic technology is closely linked to everyone's health system," explains Stanford geneticist Ashley.
Based on this vision, gene companies have been established one after another, especially when it comes to improving technology to provide more targeted treatment to patients with the most serious illnesses. This is particularly important. Many researchers believe that preventive care will also become more routine when patients understand their unique disease risk (and take steps to actively reduce risk) or they are screened before the cancer spreads.
The next step is to write DNA instead of just reading it. Gene editing tools such as CRISPR-Cas9 will make the transfer of genes cheaper and faster, and they may have various consequences if they are changed by the environment and common treatments. Stuelpnagel believes that Illumina will have greater health and agricultural impact than any other company in the next decade. DNA is the foundation of life, and Illumina has the ability to help us read it, plus DNA writing techniques, and finally realize the possibility of manipulating it."
As technology advances, bioethicists, consumers, and decision-makers will decide on how to draw lines and where to draw, and they will start a huge tug of war with heavy weight.
As genomics became mainstream, the company knew it needed a sounding body. This year, it hired a government affairs team and held an introductory meeting with policy makers to discuss the precision medicine bill and raise funds for research funding. Flatley also raised his exposure in Washington, and in particular increased the company's exploration opportunities in regulating the clinical market. Adenine, guanine, cytosine, and thymine are preached on a wide scale, without irritating the FDA (US Food and Drug Administration). It is not easy to achieve this delicate balance.
"I often joke that we need to be a Super Bowl (American Football Highest) ad," said Illumina's Henry. "From a conceptual point of view, it is imperative to pass information out."
Via fastcompany
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