Facing a breast cancer diagnosis can be a terrifying prospect, but what if you could take proactive steps to understand your risk before it's too late? While early detection through mammograms has long been the cornerstone of breast cancer care, the game is changing. Now, we're diving deep into our DNA to personalize prevention strategies.
At UConn Health's Carole and Ray Neag Comprehensive Cancer Center, board-certified genetic counselors Jennifer Stroop and Connor Linehan are at the forefront, guiding patients through the evolving landscape of genetic testing. This field has exploded in accuracy and accessibility over the last decade.
"Genetic testing isn't a crystal ball," Stroop explains, "but it empowers you to make informed decisions today. The more we know about your personal and family history, the better we can tailor screening and prevention to fit your unique risk profile."
But here's where it gets interesting: While genetic testing for breast cancer isn't brand new, the scope of what experts can now analyze has dramatically expanded.
"Currently, we know of 13 genes linked to an increased risk of breast cancer," Stroop notes. "The exciting development is that major organizations like the American Society of Clinical Oncology (ASCO) are now recommending more comprehensive genetic panels that include all of these genes."
These updated guidelines, coupled with improved insurance coverage, have made testing more common and thorough. This has also prompted many individuals who had genetic testing before 2013, when only a few genes were examined, to seek updated genetic testing.
"We're still seeing patients who had testing before 2013," Stroop says. "Those earlier tests were relatively limited, so we encourage anyone tested roughly a decade ago or more to discuss updated testing options with their healthcare providers."
Is genetic testing right for you? It's not for everyone, but certain family and personal history factors can raise a red flag.
"If a close relative was diagnosed with breast cancer before age 50, or if there are three or more relatives with breast cancer at any age, that's a strong indication that genetic testing might be beneficial," Stroop advises. "We also consider pancreatic, ovarian, and prostate cancers as potential indicators of increased risk."
Other factors like breast density, age at first period, and reproductive history also contribute to the overall risk assessment. Many patients are referred for testing after completing a family history questionnaire during their mammogram appointment or through their primary care provider or OB-GYN.
The testing process itself is remarkably simple: a blood or saliva sample is all it takes.
Important note: A positive genetic test result doesn't guarantee you'll develop breast cancer, but it does mean your lifetime risk is higher than average.
"These tests help us understand risk on a spectrum," Stroop clarifies. "There are high-risk genes and moderate-risk genes, and we adjust the screening approach accordingly."
For some, this means alternating mammograms and breast MRIs every six months instead of the standard annual mammogram. Others may qualify for additional support through UConn Health's High-Risk Breast Program, led by Dr. Dana Scott.
"We walk patients through their results, explain what they mean, and collaborate with their physicians to plan the next steps," Stroop explains.
According to the Connecticut Breast Health Initiative, Connecticut boasts some of the highest breast cancer screening rates in the country. This success is attributed to public awareness and state legislation supporting screening and diagnostic mammograms.
"The more people who have access to screening, the more likely we are to catch something early," she emphasizes. "That doesn't mean there's more cancer; it means we're finding it sooner."
Stroop points out a significant shift: patients and providers are more proactive than ever.
"People are aware of their family history, they're asking about genetic testing, and they're often more willing to take that step," Stroop says. "That awareness alone can make a huge difference."
For those wondering if genetic testing is right for them, Stroop's advice is straightforward: start with a conversation.
"Talk to your family about who has had cancer and at what age they were diagnosed," she suggests. "That information helps us make the best recommendations for your care."
And for anyone who underwent genetic testing before 2013, she adds, "It might be time to update it. The science has advanced, and that new information could change your screening plan."
What do you think? Are you considering genetic testing? Have you had it done? Share your thoughts and experiences in the comments below. Let's start a conversation!
