Why a simple saliva test could help families avoid cancer, yet aren’t more people getting it?
Ramsey’s diagnosis reached her family
Bryce Ramsey was 33 when she was diagnosed with stage 3 colon cancer. She later learned she had Lynch syndrome, a genetic condition that gave her a high chance of developing the disease.
Before discovering her Lynch status, Ramsey encouraged relatives to seek colon cancer screening. Her father, brother and aunt were subsequently diagnosed with different stages of the disease; her aunt also tested positive for Lynch. Ramsey, now 40 and living in Mississippi, calls herself the family’s “whistleblower.” She hopes her two young sons will be tested in their early 20s, the recommended starting age for her particular Lynch mutation.
Testing can guide earlier care
Lynch testing can use saliva, a cheek swab or blood. The article describes the process as quick, inexpensive and non-invasive, and says blood testing has the least room for error.
A positive result can lead to earlier cancer screening and preventive steps, including hysterectomies. Heather Hampel, a City of Hope professor specializing in cancer genomics and Lynch syndrome, said testing has substantial potential but is not widely used. Cassie Hajek, medical director of Helix, said many patients identified with hereditary conditions are surprised because they assume their risk matches that of the general population.
Evidence points to missed prevention
Colon, breast, uterine and pancreatic cancer cases are rising among young people. Colon cancer is the deadliest cancer for adults under 50, though experts do not know why rates among younger people are climbing so rapidly.
Experts caution that reducing cancer rates is complicated. Lifestyle factors, including sedentary routines and diets high in ultra-processed foods, are harder to control.
Family testing can bring reassurance
York’s family had a long history of cancer, including cases involving her great-grandmother, grandfather, great-aunts and mother’s cousin. Her mother, then a nurse, encountered Lynch syndrome through her work and tested positive; York, her two siblings, aunt, uncle and cousin also tested positive.
The family’s testing led to cascade testing, in which relatives are tested and can consider measures to lower their risk. Routine screening, including annual colonoscopies, helped them feel more reassured, and York’s mother had multiple precancerous polyps removed.
York said people who test positive in their 20s and begin screening may have a strong chance of preventing cancer by removing polyps early. Hajek added that a negative result can relieve anxiety and may mean less frequent screening than for someone with Lynch.
Key points
- Ramsey learned she had Lynch syndrome after a stage 3 colon cancer diagnosis at 33.
- Lynch testing can use saliva, a cheek swab or blood to identify inherited risk.
- A 2021 study estimated 16.4% of 713 early-onset colorectal cancer cases might have been prevented with earlier awareness and screening.
- Positive or negative results can help guide screening decisions and ease uncertainty.