It’s been two years since Laguna Niguel resident Merritt Johnson, 76, was diagnosed with a rare, life-threatening genetic condition that led doctors to discover a 20-millimeter tumor in his stomach.
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The initial diagnosis — identified through a new AI-powered pathology screening program at Providence Mission Hospital in Mission Viejo — likely saved Johnson’s life.
“If I hadn’t gone through that (test), I wouldn’t be talking to you right now,” Johnson said.
Johnson is one of the roughly one in 300 Americans who have Lynch syndrome, an inherited genetic condition linked to high cancer risk. Using Providence’s Orange County-based pathology and genetics screening program — dubbed Precision4ME — doctors were able to locate the gene mutation and catch Johnson’s tumor early enough to treat.
Lynch Syndrome is a relatively rare genetic disorder, and only 10% of individuals who have Lynch Syndrome know they have it; the other 90% remain unaware, according to Providence’s senior genetic counselor and program lead Dillon van den Berg. It has received a lot less attention than the breast cancer-related BRCA gene mutations, though screening is equally important.
It’s in situations like this, where patients don’t have the knowledge to seek treatment, that Precision4ME can provide the necessary insight to save lives, especially before the cancer becomes fatal, van den Berg said.
“A lot of people are reactive,” he said. “They wait for something to feel not right, or they wait until something happens and all of a sudden, it’s too late to do anything about it.”
Johnson’s dermatologist, Dr. Tuyet Nguyen, flagged him as a potential candidate for genetic testing and had his profile submitted for the pathology screening program.
Johnson had gone to Nguyen to have a facial carcinoma removed. During the visit, Nguyen suspected her patient might have the genetic mutation for Lynch syndrome, which is commonly associated with the skin spots.
After Precision4ME flagged the concerning genetic markers, van den Berg encouraged Johnson to undergo a colonoscopy and upper endoscopy, where doctors found he had gastric cancer. If it weren’t for the screening program, Johnson wouldn’t have known he had a more complex cancer.
“I wasn’t due for those procedures for another year,” Johnson said. “Stomach cancer is very aggressive, and I would have been a year out before realizing, because I had no symptoms at all.”
Precision4ME uses AI to more efficiently assess patients’ pathology reports, determining whether individuals may have a genetic predisposition for certain cancers and, thus, qualify for further genetic testing. In addition to Lynch syndrome, the program is capable of identifying a wide range of genetic mutations linked to cancers such as colorectal, pancreatic, breast, ovarian and prostate cancer.
For genetic counselors such as van den Berg, who meet face-to-face with patients to support them through next steps, the AI program streamlines the cumbersome task of reviewing reports, allowing professionals to instead focus more of their attention on direct patient care, he said.
The program also offers access to an online chatbot to offer immediate answers for questions patients may have regarding their diagnosis.
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“There’s a lot of manual labor in healthcare right now, and that’s why it’s such a bloated system unfortunately,” van den Berg said.
Medical staff rely on a variety of tests and health backgrounds in searching for diagnoses and sifting through medical research looking for answers.
“The AI can at least take that upfront work — digging through thousands and thousands of research articles — to give a doctor a quicker answer to make a quicker diagnosis,” van den Berg said.
Amidst growing public concerns about feeding personal information to AI models, program leaders said they’re committed to ensuring Precision4MEcontinues to use AI responsibly and with respect to patients’ privacy. Van den Berg said the Precision4ME AI technology is privately designed by Providence — meaning data will not be stored or shared outside of the healthcare system — and patients’ personal information is never used to train the Large Language Models the artificial intelligence system is built on.
Providence’s pathology screening program launched 15 years ago, and as technology advanced, its senior manager, Sandra Brown, said she and her team were dedicated to finding solutions that would improve their workflow. Precision4ME is currently in use in three of its Orange County hospitals.
With the rise of AI, Providence has set out to thoughtfully incorporate the technologies into its system in order to treat more patients, Brown said.
Through its evolution, the program’s primary objective has been to offer high-risk cancer patients a preventative pathway or early detection option of treatment. However, it’s not solely about the primary patient, Brown added.
“We’re trying to understand what might have driven that pathology, that cancer diagnosis, and if that driver is potentially an inherited driver of cancer,” Brown said. “When you identify a mutation in an individual that’s just been diagnosed with cancer, usually about 50% of their first-degree relatives — their children and siblings — have also inherited that mutation.”
Once an individual receives their genetic test results, there’s a 90- to 150-day window during which relatives can get their testing done for free at Providence. This service is meant to make genetic testing accessible for family members who may share the same risk as the original patient, and it’s part of Providence’s larger initiative to raise awareness for dangerous cancer mutations.
“If you look at the national data for patients diagnosed with cancer that meet criteria for genetic testing, only about 15 to 20% of them will ever even be offered genetic testing, which is essential for them to make treatment decisions,” Brown said. “Only about 5 to 10% (of the eligible group) get it.”
Providence has achieved a 95% referral rate for patients eligible for genetic testing, with nearly 80% of patients following through with the test, Brown said. In the last six years, Providence has identified nearly 8,000 new cancer diagnoses in Orange County that met the criteria for genetic testing — of that number, the program has detected roughly 900 life-threatening gene mutations, including 435 BRCA and 85 Lynch syndrome-associated mutations, Brown said.
Getting tested is critical, van den Berg emphasized. Given Precision4ME’s success in Orange County, program leaders said they hope to expand the service nationally in the next few years.
“You have to know if you’re predisposed or not,” van den Berg said. “Genetic counseling and testing is about taking advantage of that information. You can’t control the genes you’ve inherited or the hand you’re dealt, but you can absolutely know what your cards are and use that to your advantage.”
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