The Importance of Knowing Your Family Cancer History and Genetic Testing: Kathy Baker’s Story

November is Family Health History Month, an observance dedicated to sharing crucial health information within families and encouraging individuals to take proactive steps in their healthcare. Understanding your family’s health history, particularly with hereditary conditions like cancer, can be lifesaving. Kathy Baker’s journey as a two-time cancer survivor exemplifies the transformative power of genetic testing, particularly for families with a known BRCA1 mutation, and amplifies the importance of genetic testing even after a cancer diagnosis. Her powerful story not only highlights how genetic testing can support better patient outcomes with regards to informed care and cancer prevention, but also emphasizes the need to identify family members who may unknowingly carry the same mutation.

Kathy Baker’s Journey: A Life Changed by Genetic Testing

Kathy Baker vividly recalls the moment her life changed after learning she carried the BRCA1 mutation. A nine-year breast cancer survivor at the time of her genetic testing, she credits the testing with saving her life and empowering her to make informed care decisions. “I would not be here had I not undergone genetic testing and taken that information – not just sat on it, but gone forward with the preventive surgeries, the risk-reducing surgeries,” she reflects. Kathy’s decision to pursue genetic testing didn’t just give her additional insights into her risk – it changed the course of her life by leading her to become a fierce advocate for others who might benefit from genetic testing as she did.  

Shortly after her breast cancer diagnosis, Kathy became involved in patient advocacy – even before she knew of her own genetic predisposition to cancer.  “Once I learned I was BRCA1 positive and I knew what the statistics were for having breast cancer again or for having ovarian cancer, it was a no-brainer for me,” Kathy explains. With the knowledge of her BRCA1 mutation, she took several steps to protect her health, opting for risk-reducing surgeries to lower her chances of recurrence.  

Kathy credits these preventive measures with catching her ovarian cancer at an early and treatable stage and with giving her a fighting chance. “The importance of finding my cancer early was documented in my pathology report, which noted four times how remarkable it was that the cancer hadn’t spread,” she shares. “If I had not had genetic testing when I had, if I had not gone forward with my risk-reducing surgeries, I have no doubt I would not be here today.”  Kathy is deeply grateful for the role genetic testing has played in her experience, crediting it with saving her life. “I’m so thankful every day of my life,” she says simply. “I’m so thankful for the knowledge that not only I gained and the life that I gained, but the things that I’ve been able to do over the last 13 years of my life.” For Kathy, genetic testing was much more than a tool – it was a crucial lifeline that allowed her to take control of her health and future, and to advocate for others to do the same. 

Understanding BRCA1: What Does it Mean to Be a Carrier?

BRCA1 is one of several breast cancer susceptibility genes, the next most commonly known one is BRCA2. Mutations in either of these two genes can significantly impact an individual’s risk of developing certain cancers, including breast and ovarian cancer. Both men and women can inherit BRCA mutations from their parents, and the implications are substantial for their own cancer risk and that of their family members: 

• Women with a BRCA1 mutation have up to an 87% lifetime risk of developing breast cancer and a 39 – 63% risk of developing ovarian cancer. ¹  
   
• Men with a BRCA1 mutation are also at risk, with an up to 16% chance of developing prostate cancer and a 1.2% risk of developing male breast cancer. ² 
   
• Both men and women with a BRCA1 mutation also face an increased risk of pancreatic cancer. ³ 
   
• Individuals with a BRCA1 mutation have a 50% chance of passing the mutation to any biological children. ⁴ 

Knowing one’s risk for cancer can be lifesaving and allow patients to make more informed decisions about preventive measures, such as frequent screenings, lifestyle changes or preventive surgeries or medications to reduce cancer risk. 

The Power of Cascade Testing: Protecting the Entire Family

The importance of genetic testing doesn’t stop with the individual who tests positive for a mutation. A critical part of cancer prevention for families with a known mutation like BRCA1 is cascade testing – the process of identifying other at-risk family members and offering them genetic testing. Cascade testing ensures that everyone knows whether or not they share an elevated risk, enabling those who did inherit the mutation to take preventive actions sooner.   Despite its importance, cascade testing currently remains underutilized. Studies show that fewer than 30% of eligible first-degree relatives undergo testing when it’s offered. Cascade testing, however, could be instrumental in preventing cancer and informing care by identifying mutations earlier.⁵

Kathy Baker’s Family and the Ripple Effect of Cascade Testing

When Kathy made the decision to undergo genetic testing and discovered she carried the BRCA1 mutation, she knew this could impact her family. “I have no doubt that genetic testing saved my life,” Kathy reflects. Her relatives were also tested, through which multiple family members, including two of her own children, learned that they, too, carried the BRCA1 mutation. “My mom died of cancer, my sister had Stage III breast cancer, our grandfather died of prostate cancer and his mother died of pancreatic cancer,” Kathy explains. “If there was a poster family for a BRCA mutation, we were probably it.”  However, because of genetic testing, the eight family members who discovered they share the same pathogenic mutation have been empowered to make informed care decisions and take proactive measures that they may not have otherwise thought to implement – and there have been no additional cancer diagnoses in Kathy’s family since her ovarian cancer diagnosis.  

“Knowledge is powerful,” Kathy says. “Whether it’s a positive result or a negative, it’s empowering for both the doctor and the patient. Why guess?” For Kathy and her family, that knowledge meant learning how to be proactive about their health, addressing any immediate health risks and having the critical knowledge needed to take control of their future. This vital information from cascade testing ensures that future generations in Kathy’s family can be proactive about cancer prevention, reducing their risks of developing the disease before it starts.  

Kathy’s brother Robert, who was one of the eight to test positive for BRCA1, took this knowledge to heart. “Men don’t often think of our health, but it’s important,” he says. “Three of our five siblings are positive for BRCA1. I have annual oncology visits. One of the increased risks of cancer is breast cancer, even in men. I have breast exams, I have annual dermatology appointments, I do prostate screenings.” Robert emphasizes that routine monitoring provides peace of mind: “While no one wants to go to the doctor, it’s much better to go there and have the comfort when you leave; you have the results.” 

For Allie, Kathy’s niece, the knowledge came at a critical time in her life. “It wasn’t until after I graduated from nursing school, becoming an oncology nurse, that I really understood the importance of genetic testing,” she says. After testing positive for BRCA1, Allie made the life-changing decision at age 27 to undergo a preventive double mastectomy to support a healthy future. “It was really important for me to make sure I could be around for my kids and my family,” Allie shares. Now 30, she has begun screenings for ovarian cancer through her cancer center’s gynecological oncology clinic – screenings she will continue until her family is complete and she is ready to undergo further preventive surgery. “I was so lucky to have family members who were brave enough to undergo this testing before me. It really is just so empowering to have this knowledge. Anyone with a known genetic mutation in their family or a strong family history of cancer should consider genetic testing.”  

For Kathy, the benefits of cascade testing are clear. “By testing those patients and getting through to them to understand the importance of testing,” she emphasizes. “We give them the power to make choices about their health.” Through her own advocacy for genetic testing and the life-changing impact of cascade testing, Kathy’s family found a path to better health – allowing them to face genetic risks with knowledge, empowerment and proactive healthcare decisions.  

The Power of Genetic Testing 

Kathy Baker’s story exemplifies how genetic testing can be lifesaving – not only for individuals like her, but for entire families. Knowing your family history and understanding if you have a BRCA1, BRCA2 or other hereditary cancer mutation can significantly impact your chance of detecting cancer early or even preventing it altogether. 

As we observe Family Health History Month, Kathy’s unique journey reminds us that genetic testing is a crucial tool in cancer prevention and care. By empowering individuals to take control of their health and enabling cascade testing, genetic testing can empower future generations to take preventive measures to protect themselves from hereditary cancer and make their own journeys easier and more informed. Kathy’s tireless advocacy ensures that more families, especially those in underrepresented communities, have access to these lifechanging resources. Her work continues to inspire others to prioritize their health, advocate for better access to genetic testing and make informed decisions about their futures. 

References

1. Myriad Gene Table- Gene Results | Myriad Genetic
2. Myriad Gene Table- Gene Results | Myriad Genetic
3. Myriad Gene Table- Gene Results | Myriad Genetic
4. Myriad Gene Table- Gene Results | Myriad Genetic
5. Kristen D. Whitaker et al., Cascade Genetic Testing for Hereditary Cancer Risk: An Underutilized Tool for Cancer Prevention. JCO Precis Oncol 5, 1387-1396, 2021