JoAnn Bergoffen, MD

Genetics, San Jose

Lynch Syndrome Screening Program

“When we identify a patient with Lynch Syndrome, we can also provide potentially lifesaving information to their at-risk family members. As a geneticist, this means the world to me.”

Lynch Syndrome is a genetic condition whose carriers have a high lifetime risk of colorectal cancer – up to 80% compared to 6% in the general population – and are at risk for other types of cancer as well. Studies have shown that early diagnosis of Lynch Syndrome followed by proactive management saves lives. Because the condition may be prevalent among relatives, detection is critical to protecting their lives too.

Yet Lynch Syndrome can be difficult to diagnose with the timeliness and accuracy required to make a difference.

Undeterred, Dan Li, MD, and JoAnn Bergoffen, MD, had the vision and ingenuity to bring the most effective screening protocol – which calls for universal testing of all newly diagnosed colorectal cancer patients – to KP Northern California’s members. “Kaiser Permanente is the perfect place to roll out universal screening because we are a fully integrated program,” notes Dr. Bergoffen.

They assembled a multidisciplinary team, designed new workflows, and launched their pilot project at the Santa Clara Medical Center in 2011. “It didn’t take long before we started to find new Lynch Syndrome patients,” says Dr. Li. “That suggested our program was working.”

Indeed it was. The Commission on Cancer commended their program as “one of few in the nation that have accomplished reflex genetic testing for Lynch Syndrome.”

Following Drs. Bergoffen and Li’s lead every medical center in the region now has a systematic Lynch Syndrome Screening Program in place. Over 2,000 colorectal cancer patients have been screened, making KP Northern California one of the largest community based programs in the country.

Drs. JoAnn Bergoffen and Dan Li saw the opportunity to implement a cutting-edge cancer prevention program and they seized it. Generations of patients and their at-risk family members will benefit from their work.