Jeremy Nottingham, along with his parents Junius and Sharon, and his sister Briana, posed for a family photo. Jeremy, who followed his father’s footsteps in law enforcement, was 28 years old and athletic. However, during a family vacation in Florida, Jeremy mentioned to his wife that he experienced heavy bleeding during bowel movements. His wife suggested that he see a doctor back in Birmingham, Alabama. After the visit, Jeremy’s family received shocking news that he had Stage 4 colon cancer.
Unbeknownst to them, the Nottingham family carries a genetic variant that puts them at a high risk for colon cancer and other types of cancer. This is not uncommon, as inherited genetic mutations contribute to around 10% of all cancer cases in the US. Millions of people in the country have genetic variants that increase their cancer risk, but most are unaware.
Genetic screening has become more accessible and affordable, allowing for the detection of dozens of genes associated with various cancers through a simple blood test. However, experts say that not enough people who should undergo this screening are aware of its existence. Knowing one’s genetic risk can lead to early detection and preventive measures, such as regular screenings or surgeries.
Junius Nottingham Jr. had never heard of Lynch syndrome, a genetic condition associated with a high risk of colorectal cancer, until doctors suggested genetic screening for his family after Jeremy’s diagnosis. Lynch syndrome affects 1 in 300 Americans, making it more common than certain cancer-causing mutations like BRCA1 and BRCA2. Many mutations linked to increased cancer risk remain relatively unknown.
When Junius got tested, he found out he had a Lynch syndrome mutation inherited from his mother, leading him to realize the risk he had passed on to his son. He too was at significant risk for cancer and needed surgery after a colonoscopy confirmed a cancer diagnosis. This sudden revelation turned their world upside down.
In the past, genetic screening for inherited cancer risk was expensive, leading to selective referrals. However, costs have reduced significantly, making it more affordable. Insurance providers now cover the testing more extensively. Yet, many individuals who should be tested do not undergo the process.
According to experts, only a fraction of the US population at risk has been identified, even three decades after discovering certain cancer-related mutations like BRCA1 and BRCA2. Only a small percentage of cancer patients get tested for heritable genetic variants, potentially leaving many at risk individuals undiagnosed.
Recent research has shown that genetic testing could identify a significant number of hereditary cancer syndromes if performed on every cancer patient, regardless of age or family history. Knowing genetic risk can guide treatment decisions and provide valuable information to family members who may also be at risk.
The low testing rates can be attributed to a lack of awareness among cancer doctors and patients. Many doctors are unaware of the latest research on inherited cancer risk or the affordability of testing. This is especially true for doctors in smaller or regional centers where most patients receive treatment.