While celebrities like Angelina Jolie, articles on BRCA1/2 mutations and commercials for consumer testing labs from Ancestry.com have raised awareness of genetic testing, counselors want to ensure people are getting the most comprehensive knowledge, says Kim Matthijssen, a certified senior genetic counselor for Inova and the Northern Virginia representative for the Virginia Association of Genetic Counselors.
“Our goal is understanding if someone has an increased risk to develop a certain type of cancer … it can help us make decisions to further treatment,” says Matthijssen, who helps patients interpret results. She says the information may help doctors recommend targeted treatment if someone has a certain susceptibility, and the information helps with cancer risk assessment. Over 1,800 people were seen in 2017 at Inova’s cancer genetics clinics, up from 1,439 in 2016.
But while most cancer is not genetic or inherited, between 5 and 10 percent is, she says, so “we’re trying to disseminate who are the best candidates.” She does not recommend testing as part of routine care; instead, consult with a licensed genetic counselor if you have a red flag such as:
- Early onset cancer, prior to age 50 for breast or colon
- Same or related cancer—breast, ovarian, pancreatic, colon, uterine—in two or more close family members
- Rare cancers like ovarian, pancreatic, male breast cancer, aggressive prostate cancers
- Multiple cancer types in one person, such as a relative who had breast cancer on both sides, or one who had breast and ovarian
- If someone of Ashkenazi Jewish ancestry has a personal or family history of breast, ovarian or pancreatic cancer
- Take into account genetic mutations can be passed down by any relative, either gender, she advises; it’s a myth information can only be passed down from the mother’s side
Pros and Cons of Testing
The benefits of testing are numerous, like understanding why someone developed a disease. “If we understand someone having a higher chance of cancer, it will allow for personalized screening recommendations,” she explains. It can also help with treatment decisions, and it helps identify high-risk individuals in your family.
Matthijssen notes the drawbacks: recommendations of what to do with results are unclear. “Our ability to test genetic information is outweighing our ability to interpret that sufficiently.” They may not be able to advise people what to do with the information about newer genes that haven’t been studied long. It’s a unique limbo, where medical professionals are unsure about the courses of action.
And, she points out, some people with a negative result think they’re home free—“but it doesn’t eliminate they will get cancer. That person may still have a chance of cancer modified based on family history, unknown genetic factors, lifestyle or environment.”
Another concern is the patient’s worry. “Sometimes higher chances of cancer can bring a lot of anxiety. They may not be ready to handle genetic information.”