2222.png)
It’s estimated that 129 million people in the US are living with at least one major chronic disease. That’s nearly one in three Americans. And every year, around 2 million Americans are diagnosed with cancer.
Generally, the only way to get that diagnosis and begin treatment is with a biopsy.
Biopsies require a sample of tissue or cells from the area of the body where cancer is suspected to be. When you’re talking about stomach or lung or brain cancer, retrieving that sample is, well, very invasive. These surgeries are painful and risky, with the chances of health complications soaring more than 88 percent when compared to nonsurgical procedures.
They’re also expensive. The median cost of a surgical biopsy for a late-stage lung cancer patient is more than $28,000.
That money and risk are invested for a one-time tissue sample that preempts any sort of treatment, and that can’t keep pace with cancer’s constant mutations and spread, often locking patients into a treatment plan for one reality as the disease evolves into another. It’s like always being one step behind disease.
But just over a decade ago, Guardant Health cofounder and co-CEO Helmy Eltoukhy wondered: What if, instead of trying to keep up, medicine could outpace disease? Guardant Health launched its first diagnostic blood test, Guardant360, the first complete genomic profiling blood test that finds genetic changes or mutations in a patient’s cancer that helps doctors choose the best treatment for them. It has continued to expand based on data collection. To date, Guardant has tested more than a million patients across 60 countries and built one of the world’s largest oncology datasets to assist in late-stage treatment guidance and deliver early detection and recurrence monitoring through its liquid biopsies.
Onstage at the WIRED Health event in Boston, Eltoukhy chatted with WIRED contributing editor João Medeiros, revealing his latest thinking on what it will take to transform not only the trajectory of cancer care, but the field of medicine itself through faster, more powerful diagnostic technology. And, most importantly, how close we are to that reality.
Moore’s Law, but for Healthcare
It all starts with a blood test.
Ten years after the debut of Guardant360, about 30 percent of US advanced cancer patients receive the test.
The UK’s health service has adopted it nationwide for lung cancer diagnosis and cutting-edge genomic testing, reducing patient wait times for diagnosis in half.
“It’s quickly becoming the standard of care,” Eltoukhy told Medeiros. To date, Guardant360 has been shown to double survival rates when used to guide targeted therapies.
Next came Guardant Reveal*, the first tissue-free test for recurrence monitoring following cancer surgery or treatment. Then, last summer, Guardant launched a new tool called Shield. It leverages what studies have shown to be one of the most effective cancer-fighting methods yet: regular screenings. “The dream when we started the company in 2012 was to get to a blood test that could detect cancer very early at an annual physical,” Eltoukhy said.
Shield by Guardant became the first blood test to be approved by the FDA as a primary screening option for colorectal cancer, or CRC.
The approval came after a landmark study published in the New England Journal of Medicine that involved 20,000 people, in which the test detected colorectal cancers in more than 83 percent of the participants who were confirmed to have colorectal cancer through a colonoscopy.
For the first time, Shield has given millions of Americans a convenient, non-invasive option that can help fill in the many gaps around preventative screening—which, by the numbers, is needed.
According to recent data, 30 percent of eligible adults are not up to date with any type of recommended colorectal cancer screening, and the disease is the second leading cause of cancer deaths in the United States, according to the American Cancer Society. Of the 50,000 Americans who die from colorectal cancer each year, three-quarters are not up to date on their screening**.
At WIRED Health, Eltoukhy emphasized Guardant’s plans to expand Shield’s scope of testing. Beyond colorectal cancer, Guardant recently announced the expansion of the test to include nine other cancers with multi-cancer detection (MCD) as part of a large-scale real-world data collection initiative to reach hundreds of thousands of participants. When patients receive a Shield test for colorectal cancer, they can opt-in to receive an MCD results report as part of this data collection initiative.
Within this kind of push for innovation lies a certain philosophical, technological truth: Scale fosters progress. Since the initial launch of Guardant360, test sensitivity has increased by more than hundredfold. “As we tested hundreds of thousands of patients and analyzed the signals, we improved the technology further,” Eltoukhy explained. He analogizes the gains to Moore’s Law, which, in 1965, successfully predicted the doubling of computing power every two years.
As technology is more successfully applied to healthcare, the parallel speaks for itself. More data, used well, can lead to more perceptive detection, more immediate learning, and more comprehensive applications. And the application of more data, Eltoukhy hopes, results in a decrease in healthcare’s financial burdens on patients. In an industry notorious for bills so high that they can negatively impact lives just as much as a cure can positively impact them, this is “the first deflationary injection of tech framework into healthcare in our view,” Eltoukhy said.
Unlocking Stage 1 Detection
Here’s how it works: Guardant’s blood test-based technology uses DNA sequencing to analyze specific genes known to be frequently mutated in cancers that are circulating in a patient’s blood. It’s like a tracker being able to tell you that a deer is in the woods based on droppings and tracks, without having to see the deer itself. Or, if you come across other tracks, you realize that there’s a bear nearby, too.
A breakthrough in zeroing in on disease like that can’t come from genomic DNA alone, but from unlocking the epigenome.
Nearly every cell in your body (barring sex cells) carries the same six billion DNA base pairs in its two sets of chromosomes. Yet, our body is made of parts that don’t look—or function—alike at all. Skin cells, bone marrow cells, and liver cells can differentiate their tasks solely because of a little thing called epigenetics. Epigenetics describes the changes in gene activity that act like switches to turn our genes “off” and “on” to complete different tasks. Like growing hair. Or making a scab when a knee is scraped. The epigenome carries the most detailed information about a cell’s current behavior. By developing chemistry that reads both the genome and epigenome from a blood sample, Eltoukhy believes Guardant has not only achieved the sensitivity needed to detect cancers at early stages, but also to extend detection to myriad chronic diseases.
Most chronic conditions—from cardiovascular to autoimmune disorders—have their own “switches” within the epigenome. “Through solving one problem, we realized this could solve many more,” Eltoukhy said. He noted that initial tests are already detecting signals for diabetes, rheumatoid arthritis, and heart disease.
Focusing on Preventive, Predictive Care
In Eltoukhy's vision, similar to how the Shield test can be easily taken at any doctor’s office with a simple blood draw, blood testing for multiple diseases will be a routine part of primary care, like stepping on a scale or checking blood pressure.
“We have the potential to collect billions of data points with every test,” he said onstage.
“Imagine having that every six months, and using AI to correlate minute changes over time. It’s going to be a completely different experience,” he said.
In this vision, diagnostic blood tests can act as a “co-pilot” for primary care physicians. If healthcare, like science, has always been additive, then, as Eltoukhy pointed out, “nothing ever gets subtracted.” The goal then becomes to introduce technology that reduces costs while improving outcomes.
For patients, this addition could mean a future where a routine blood draw not only screens for dozens of cancers but also flags risks for heart disease and diabetes. It could mean billions in savings. It could mean saving lives with the shift from diagnostic to predictive medicine. And, Eltoukhy hopes, it could mean staying “one step ahead of disease.”
*This test is a laboratory developed test (LDT) and not cleared or approved by FDA.
**Doubeni, C, et al. Modifiable Failures in the Colorectal Cancer Screening Process and Their Association with Risk of Death. Gastroenterology. 2019 Jan; 156(1): 63–74.e6.
