The power of knowledge: How BRCA gene testing changed this doctor’s life

When Jill Westkaemper, MD, an adult family medicine physician in Dallas, Texas, was growing up, cancer seemed like an inevitable part of her family's story. Four close family members were diagnosed with cancer in their 30s and two in their 60s.

"When I was growing up, I honestly just assumed almost everyone got cancer," Dr. Westkaemper said.

Instead of letting fear consume her, Dr. Westkaemper channeled these experiences into motivation. The intimate understanding of what her family members endured inspired her to attend medical school. Even three decades ago, when wellness wasn't yet established as a medical specialty, Dr. Westkaemper knew this was an area she wanted to pursue.

As she started her career in medicine, she had no idea the twists and turns her own health journey would take. Determined to not be the next chapter in her family’s cancer story, she turned to the power of genetic testing.

This is her story.

BRCA gene testing sparks a realization

It was during medical school in 1992 when Dr. Westkaemper first heard about the BRCA gene. As emerging research began linking certain breast and ovarian cancers to genetic markers, a lightbulb went off.

"I thought, 'Wow! I probably have this,'" Dr. Westkaemper said. "And sure enough, I did."

Though genetic testing was expensive in the early 1990s, it was something she felt she wanted to know. After a few family members decided to go through with testing, Dr. Westkaemper, at age 30, received confirmation that she carried the BRCA2 mutation.

What is BRCA?

BRCA1 and BRCA2 are genes that produce tumor-suppressing proteins. These proteins help repair damaged DNA and play a crucial role in preventing cells from developing genetic alterations that can lead to cancer.

When either of these genes has a mutation, the protein product may not function properly, potentially allowing genetic alterations to accumulate and eventually lead to cancer.

People who inherit BRCA mutations face significantly higher risks of developing breast and ovarian cancers, as well as increased risks for several other types of cancer, including pancreatic and prostate cancers.

Gratitude in knowledge

For many, such news from genetic testing might be devastating. For Dr. Westkaemper, it was liberating, and the information was invaluable.

"I was grateful," she said. "It put me on a determined path for optimizing my health."

Armed with knowledge about her genetic predisposition, Dr. Westkaemper made several life-changing decisions. After having her third child, she opted for prophylactic surgery— a surgical procedure performed to prevent a disease or condition from developing in the future—to dramatically reduce her cancer risk. Understanding the young ages at which cancer had struck her family members, prevention became her priority.

Genetic information became a catalyst for holistic health improvements. Dr. Westkaemper devoted herself to maintaining a healthy weight, establishing a consistent exercise routine, embracing a more nutrient-rich diet with plenty of fruits and vegetables and minimizing alcohol consumption.

"I honestly feel, now that I am 54, that knowing I was BRCA positive allowed me to live a more vibrant and healthy life," Dr. Westkaemper said.

Making difficult choices

In 2002, Dr. Westkaemper underwent a prophylactic mastectomy (removal of the breasts) with reconstruction. While she acknowledges it was "a big surgery," she remained confident it was the right choice for her situation. She also faced important decisions regarding hormone therapy following oophorectomy (surgical removal of the ovaries).

These weren't easy choices, but they were informed ones—medical decisions made with the benefit of genetic insight that previous generations in her family never had.

Even with preventative surgeries, being vigilant about health symptoms remains important for those with BRCA mutations. Last summer, Dr. Westkaemper experienced concerning swelling in her left breast. An MRI scan showed what appeared to be fluid, raising several possibilities: implant rupture, lymphoma or underlying cancer.

As she arranged surgical scheduling to replace her implants, the swelling became increasingly uncomfortable. Dr. Westkaemper sought care at Baylor Scott & White, where she praised the radiology team for their professionalism and compassion during a frightening time. They quickly arranged to drain and test the fluid, providing crucial care when she needed it most.

The power of BRCA gene testing

Dr. Westkaemper's story illustrates how genetic testing can transform fear into empowerment. For those with strong family histories of certain cancers, genetic information provides options that previous generations never had.

While not everyone will make the same medical choices Dr. Westkaemper did, her story highlights the importance of having options. Early awareness of genetic predispositions empowers you to take steps to manage your unique risks—from increased surveillance to preventative surgeries—in partnership with your healthcare providers.

“The decision of whether to pursue genetic testing is unique to each person, but it’s rewarding to see stories like Jill’s where genetic testing, combined with proactive screenings and a commitment to personal wellness have helped her live a full life, taking charge of what she has the power to control,” said Amy Balis, MD, medical director of the Women’s Imaging Center at Baylor Scott & White Medical Center – Irving.

For Dr. Westkaemper, genetic testing didn't just potentially save her life; it enhanced it. By understanding her risks, she made proactive choices that allowed her to focus on living fully rather than fearing what might come.

As genetic testing becomes more accessible and our understanding of genetic markers continues to advance, more people like Dr. Westkaemper will have the opportunity to write their own health stories rather than simply inheriting their family's medical narrative.

How to get tested for BRCA gene

Today, BRCA testing is much more accessible than when Dr. Westkaemper was tested in the 1990s. The process typically involves:

• Genetic counseling: Before testing, individuals usually meet with a genetic counselor who evaluates family history and discusses the benefits, limitations and potential implications of genetic testing.
• Sample collection: Testing requires a blood or saliva sample, which contains DNA that can be analyzed for BRCA mutations.
• Laboratory analysis: The sample is sent to a specialized laboratory where technicians examine the BRCA1 and BRCA2 genes for mutations.
• Results and follow-up: Results typically take several weeks. A genetic counselor helps interpret the findings and discuss appropriate next steps.

Most medical guidelines recommend BRCA testing for people with personal or family histories suggesting hereditary breast and ovarian cancer syndrome. Many insurance plans now cover genetic testing for those who meet certain risk criteria, making this potentially life-saving information more accessible than ever before.

If you’re worried you may have an increased risk of developing certain types of cancer, heart disease or other conditions, find genetic counseling near you.