Understanding hereditary cancer is the difference between life and death for Chiquita Hessels. In 2011, just ten months after her mother’s death from breast cancer, and one month after her maternal aunt’s passing from bowel and jaw cancer, Chiquita herself was diagnosed with breast cancer.
Chiquita sought advice about whether there was a hereditary connection behind her family’s cancer history. Genetic mutations in specific genes put individuals at relatively greater risk of developing certain cancers, including some forms of breast, colorectal, and thyroid cancers, and these genetic mutations can be hereditary and passed on within families.
Fortunately, hereditary genetic panel testing is available and enables affected people to learn what cancers they may develop, how often to have medical follow‑ups, and what further cancer screening may be required. Screening also informs their families of potential risk, and whether there are preventive measures that might mitigate risks.
A genetic variant like the one found in Chiquita’s family could indicate a number of inherited conditions, which until recently would have required multiple tests for each possible inherited gene. Now one panel test can screen for 17 genes simultaneously, reducing wait times and saving precious health care dollars.
“These panels were designed to help physicians choose between real treatment options that cancer patients can access today. As our knowledge of cancer genetics evolves, we can rapidly add tests for more mutations with the hope of helping more cancer patients, faster.”
— Dr. Aly Karsan, Centre for Clinical Genomics, Michael Smith Genome Sciences Centre, BC Cancer
The outcome for Chiquita was a positive test for the gene causing Li Fraumeni Syndrome, a rare hereditary cancer disorder. The test revealed what other cancers she is at risk of, what screening tests would be best for her and what tests and cancer treatments she should avoid as they could be harmful to her.
This test result is just as important for Chiquita’s family’s health as it is for her own. This is because some blood relatives will have inherited the same gene mutation, and some will not. Those with the mutation will be able to undertake effective cancer screening and prevention measures. Ultimately, the panel test shortened the time needed to give Chiquita and her family the answers they need to optimize their personal health.
Prior to 2016, the full benefits of genomic testing for genes associated with hereditary cancer were not being realized. The multi-gene panel test, developed by a team led by Dr. Aly Karsan at BC Cancer’s Michael Smith Genome Sciences Centre, is a significant advancement in screening for a predisposition to cancer.
It is well understood that early detection allows for better treatment options, greater chances of remission, and improved quality of life. In addition, health economic analysis shows the test to be cost-effective and improve patient outcomes.
This test was established as part of standard care in Canada for patients at risk of hereditary cancers and fully integrated into clinical practice in BC in 2016. Since then, wait times for hereditary cancer screening have been reduced from several months to a few weeks. As well, BC’s expertise is now being sought by other Canadian jurisdictions to alleviate backlogs and speed up testing nationwide.
