Revolutionary RNA Technology for Colorectal Cancer Screening

Written by Melissa Schenkman, MPH, MSJ

Image Credit: Whitney Curtis/Wash U

Dr. Erica Barnell, co-founder and Chief Medical Officer of Geneoscopy, discusses the development of ColoSense, the first FDA-approved RNA-based stool test for colorectal cancer screening, and why early detection matters for millennials.

What initially drew you to specialize in gastrointestinal health? 

There are really two types of medical students: the Grey's Anatomy types who've known they wanted to be surgeons since they were four, and people like me who are just nerds who love science. I didn't have a clear vision initially, but during my clinical rotations, I met a woman who presented with stage four colorectal cancer. She was just over 50, had kids, had a job, and was too busy to get screened.

I thought to myself, in the era of precision medicine, where we can sequence a genome in 24 hours, why are we only offering colonoscopy as our screening option? That's when I founded Geneoscopy—to build diagnostic tests that could integrate with patients' lives more effectively and get people screened where they are.

What challenges do you see in colorectal cancer care for people under 50?

Healthcare is a multi-trillion-dollar industry, and everything is broken, so just point and fix is my mentality. Our generation—the millennials—we haven't thought about colorectal cancer. I always say it's weird because I see young moms born in 2010, and I'm like, "But I was born in 1990, and I'm also a young mom." We don't view ourselves as coming up to an age for colorectal cancer screening.

We need to start educating the community that colorectal cancer screening is for us—for people under 50. Forty-five is the new 50, and I think soon 40 is going to be the new 45. We're seeing a rise in late-stage disease diagnosis in patients who are 50 and under, not just 60 and up.

What are today's colorectal cancer screening options?

Traditionally, we've offered colonoscopy, which requires active primary care visits, physician education, referrals, gastroenterologist appointments, consent, prep, and the procedure itself—so many barriers. Now we have several non-invasive options that are FDA approved, giving people what they want: choice and opportunity.

We provide a stool-based test delivered directly to your home. You can get a telehealth visit, and if qualified, the test comes to your home. You complete it in comfort, and unlike most stool-based tests that require you to manipulate your stool, ours doesn't. You just go to the bathroom normally and ship it back. We've mitigated the "ick factor"—you don't have to talk to the FedEx person, it has a prepaid label, you just drop it in the box.

Can you explain RNA technology for those who haven't studied biology in years?

My favorite topic is actually Star Wars, but RNA is a very close second! It hasn't really changed since seventh-grade biology. RNA is the messenger of the cell—it provides real-time insight into what's happening in your cells and GI system.

While there are many different DNA mutations that can cause precancerous development or malignant transformation, a lot of those changes converge on a universal signature that we detect in stool samples. Whether you have an adenoma or cancer that developed from various pathways, it all looks similar to us, which is how we improve test accuracy and ensure positive patients get colonoscopies to have lesions removed.

How does ColoSense differ from other screening tests?

Where our test really shines is in younger patient populations. Since we're leveraging RNA-based markers rather than methylation-based markers (which correlate with age), we've maintained accuracy in younger patients where other tests have not. For patients who are younger, our test may be more suitable because of the biomarker we're using.

The second big difference is that it's a touchless test. You get the kit, do what you normally do, close it up, and text us or FedEx for pickup. When you look at instructions for other tests, it's confusing. I have two doctorates and felt confused with COVID tests! You don't want to mess up. Our lab has taken on the entire burden of handling the sample—we've left patients with just doing what they know how to do, which is go to the bathroom every day.

Why should millennials approaching 45 prioritize colorectal cancer screening?

You can't open the news without seeing something about this. Colorectal cancer is the second leading cause of cancer-related deaths and is going to be the leading cause of cancer deaths in men and women under 50. What's unbelievable is that it's the most preventable but least prevented cancer.

If you get screened, you have almost a negligible chance of getting late-stage cancer. When I see celebrities like Chadwick Boseman or James Van Der Beek getting colorectal cancer—they're my age, with probably great access to healthcare—you start thinking about what's available to the general population.

The message is how easy it is to get screened. In the same way you brush your teeth every morning and drink your coffee, it's that easy. Don't put it off—make sure you get screened because we are seeing it, and unfortunately, it's part of our reality.

Could RNA-based tests help lower the screening age to below 45?

The paradigm is completely shifting. Previously, it was "colonoscopy first, non-invasive test if not," but that's changing. If we're saying colonoscopy first, there are serious harms to lowering the screening age to 30, a high incidence of adverse events, expensive procedures, and potential complications like colon perforation.

We don't have enough colonoscopy appointments or gastroenterologists to service an entire population 30 and up. But we do have enough non-invasive tests. There are truly no adverse events associated with collecting a stool sample.

As the paradigm shifts to "non-invasive tests first, especially for lower-risk patients, then colonoscopy as needed," the risk-benefit calculations will change. My anticipation is that the screening age will creep lower and lower, especially for patients with risk factors like family history.

What gives you the most hope about early-onset colorectal cancer?

Colorectal cancer is the most preventable but least prevented cancer of our generation, and we have the opportunity to prove cancer wrong. We know that when patients are adherent to screening, outcomes are good. We know we can eliminate colon cancer if patients are screened.

We're starting to get the ammunition to do that. We have multiple non-invasive tests available—blood tests, stool tests, FIT tests, and molecular tests. We have multi-billion dollar companies directing all their resources to advocacy, education, provider education, and convincing payers that this is important.

I feel very hopeful that five years from now, we won't be having conversations about how to educate people to be screened. We'll be talking about how to screen even earlier, or how to do multiple cancer screenings in a single bowel movement. The transition will happen where we're not talking about compliance—we're talking about improvement of existing technology

What's next for Geneoscopy?

I've been building ColoSense for the last 10 years, but I'm an inflammatory girl at heart. I'm really excited to get back to our pipeline products in inflammatory bowel disease and irritable bowel syndrome. We're building non-invasive tests in the same way we built for colorectal cancer screening, but for patients with gastrointestinal distress—to give them insight into inflammation in their GI system and how we can address it.

The combination of inflammation and oncology will hopefully provide a comprehensive assessment of patients' GI health.

Want to hear more from Dr. Barnell? Check out the YMyHealth podcast on your favorite streaming platforms and YouTube!