A simple saliva test could help families avoid cancer. So why aren't more people getting it?

After Bryce Ramsey was diagnosed with stage 3 colon cancer at 33, she learned another piece of shocking news: She had a genetically high chance of developing it from the very beginning.

Ramsey tested positive for Lynch syndrome, a silent, inherited condition that heightened her lifetime risk of being diagnosed with colorectal cancer by up to 56% for her variant. It also put her at greater risk of developing ovarian, uterine, stomach, pancreatic, and other forms of cancer.

Before she learned she had Lynch, Ramsey urged her relatives to also get screened for colon cancer. Since then, her father, brother, and aunt have all been diagnosed with various stages of colon cancer. Like Ramsey, her aunt also tested positive for Lynch.

"I was the whistleblower," Ramsey, 40, based in Mississippi, told Business Insider. Ramsey now wants her two young sons to test for Lynch once they're in their early 20s, the recommended starting age for her specific Lynch mutation.

Like most genetic testing, Lynch syndrome testing is relatively quick, cheap, and non-invasive. It involves a saliva test, a cheek swab, or a blood test, with the latter having the least room for error.

Still, it hasn't caught on: About 1 in 279 Americans (1.2 million people) are estimated to have Lynch syndrome, including between 3 to 5% colon cancer patients. Yet an estimated 95% of Americans with Lynch syndrome have no idea they have it.

All the while, cases of colon, breast, uterine, and pancreatic cancers are rising in young people, with colon cancer the deadliest cancer for adults under 50. "If you don't know, then you can't get help," Ramsey said, including earlier screenings or preventive measures such as hysterectomies.

"Ignorance is not always bliss."

The 'lowest hanging fruit' for cutting down cancer risk

Some experts view broader Lynch syndrome testing as a way to get more people screened for cancer before symptoms arise — and a way to potentially help entire families better understand their cancer risks.

Like Ramsey, the majority of people diagnosed with Lynch syndrome only get screened after they have cancer. In the US, the CDC's general guidelines recommend that colon and uterine cancer patients have tumors biopsied for Lynch, followed by Lynch syndrome screening for the patient if there are abnormal findings.

Some experts believe the lack of early genetic testing is a huge missed opportunity for reducing cancer risk. One 2021 study found that about 16.4% of 713 early-onset colorectal cancer cases could have been prevented if patients knew either their family history or had been genetically screened, and would have subsequently started getting colonoscopies sooner.

Lynch syndrome testing "has got so much potential, but it's not being utilized," Heather Hampel, a professor at City of Hope in California who specializes in clinical cancer genomics and Lynch syndrome, and a co-author of the study, told Business Insider.

While Lynch syndrome remains unknown to most Americans, some health systems are trying to expand testing to the broader population. Helix, a genetic screening company that first started out as a consumer DNA marketplace, started partnering with 17 health systems in 2021 as part of its "Population Genomics Initiative." The goal has been to introduce broader population-scale genomic programs that include testing for Lynch syndrome.

Dr. Cassie Hajek, the medical director of Helix, told Business Insider that most patients diagnosed with one of these hereditary conditions by Helix were completely taken aback by the news. "They're kind of operating on the assumption that their risk is just as it is in the general population, but in fact, it's significantly elevated," she said. "The whole goal is to identify these patients hiding in plain sight."

By knowing their genetic predispositions for cancer, they can both more easily start earlier cancer screenings and also inform their family members of their potential genetic risks.

Hampel noted that lowering overall cancer rates is complicated. We still don't know why colon cancer cases are rising so rapidly among young people, and lifestyle factors like sedentary routines and diets high in ultra-processed foods are far more difficult to control for.

"If the lowest-hanging fruit is family history and gene testing, and we can't even prevent those," Hampel said, "how are we ever going to prevent things where we need people to make lifestyle or behavioral changes?"

The ripple effects for families

Michelle York was 33 when she first heard of Lynch syndrome.

Up until that point, all she'd known was that her mom's side of the family had a long cancer history. Her great-grandmother died from colon cancer. Her grandfather had stomach and brain cancer. Her great-aunts died from liver, ovarian, and breast cancer, respectively. Her mother's cousin died from pancreatic cancer.

York's mother, a nurse at the time, had come across the term through her work. She tested positive for Lynch, along with York, her two siblings, aunt, uncle, and cousin.

At first, the news caused some anxiety. "Does this mean I'm going to get cancer at a young age?" York, 43 and based in Los Angeles, told Business Insider. "Does this mean every time I don't feel well, I'm going to immediately think I have cancer?"

However, once York and her family started getting routine cancer screenings, including annual colonoscopies, they felt more reassured than afraid, because they knew they could catch cancer early. York's mother had multiple precancerous polyps removed.

"None of us have had cancer yet, but we've had lots of scares," York said. She also wants her kids, ages 17 and 14, to test once they're older.

York's mother triggered something called "cascade testing," in which other family members test for Lynch and can take preventive measures to reduce their cancer risk.

Dr. Sapna Syngal, the director of research at the division of cancer genetics and prevention at the Dana-Farber Cancer Institute in Boston and the founder of its Lynch Syndrome Center, sees cascade testing for Lynch as a "real opportunity" to lower cancer risk, she told Business Insider.

Particularly for young people, if they test positive for Lynch in their 20s and start getting cancer screenings, "there's a really, really good chance that you could prevent that cancer by taking out polyps earlier on," she said.

There are also financial benefits to knowing you have a genetic predisposition to cancer. While insurance coverage for Lynch-related cancer screenings can vary, Hajek said her patients typically have a more "straightforward" experience in getting otherwise expensive screenings like colonoscopies covered. York, for example, said her insurance covered her cancer screenings once she got her Lynch syndrome diagnosis.

Ultimately, Hajek said Lynch syndrome testing can help patients get more precise care than simply knowing they have a family history of cancer. Just as testing positive for Lynch can prompt someone to start cancer screenings sooner, testing negative can also relieve a person of anxiety about being at high risk of early-onset cancer and potentially call for less frequent cancer screenings than if they had Lynch.

York said she's ultimately grateful for finding out and knowing she can catch any early signs of cancer by starting annual screenings such as colonoscopies in her 30s — over a decade before the average-risk recommended screening age of 45. Both Ramsey and York also had hysterectomies and oophorectomies unrelated to cancer, which brought extra relief in also reducing their uterine and ovarian cancer risks to essentially zero.

"I think knowledge is power," York said. "Now, it almost feels comforting because I know that I started doing this young."

Lynch needs its Angelina Jolie

In 2013, Angelina Jolie revealed in a New York Times op-ed that she had tested positive for BRCA1, a gene that increases the risks of breast and ovarian cancer.

Her revelation — and subsequent operations to remove her breasts and ovaries — sparked an international drive to get tested for BRCA1/BRCA2. Years later, a study found that 15 business days after Jolie's op-ed went live, BRCA testing rose 64% in the US.

Over a decade later, researchers and patients are working to make Lynch syndrome screening similarly universal.

Getting every person screened comes with its own obstacles.

Lynch could be added to the list of genetic conditions screened for in newborn heel tests. However, critics of the idea believe it can create years of stress when the person with Lynch isn't recommended to start getting colonoscopies until they're in their early 20s.

Other routes, such as including Lynch syndrome testing when people join the military or go to college, would miss broad swaths of the population.

There's also the question of funding. Helix, for example, doesn't bill patients and instead relies on the participating health systems for financial support. Few hospital systems can afford to prioritize testing for a gene condition that impacts a small portion of the population.

Syngal said one immediate option for getting more people screened for Lynch is to follow York's route: consider getting tested if you have a family history of colon or other relevant cancers.

Since their diagnoses, Ramsey and York have tried to spread the word about Lynch syndrome testing. Ramsey is an official advocate for the non-profit Lynch Syndrome Awareness, while York, a full-time content creator, has shared her story on social media.

"It's scary when you first find out that you have a genetic mutation that predisposes you to cancer," York said. "But at the end of the day, knowing that and taking those precautions could ultimately save your life."