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The Positive Gene Podcast - Episode #2: Lessons Learned While Navigating Genetic Testing

Updated: Nov 21, 2023

The Positive Gene Podcast Ep. 2 - Transcript

(Links mentioned in the episode are located at the bottom of the page)




Introduction: Welcome to our pilot episode of the Positive Gene Podcast. Today, we're diving deep into the universe of genetic testing for hereditary cancer genes. Together, we'll explore the journey of genetic testing and how I used my signature “R.E.A.D.Y. Framework” as a guiding compass during every phase: before, during, and after testing.


Let's get R.E.A.D.Y.!


As usual, a couple of caveats and comments… First, I am not a medical professional. Everything shared here is based on my personal experience and journey with hereditary cancer syndromes. Always consult with your healthcare providers about your personal health concerns.


Second, It's important to understand that not every cancer that seems to run in a family is caused by a family cancer syndrome. According to the American Cancer Society, “About 1 in 3 people in the United States will develop cancer during their lifetime, so it’s not uncommon to have many cancers in a family. Sometimes, cancer might be more common in certain families because family members share certain behaviors or exposures that increase cancer risk, such as smoking, or because of other factors that can run in some families, like obesity.”


In the case of hereditary cancer syndromes, cancer can sometimes be caused by an abnormal gene that is passed from generation to generation. The American Cancer Society further explains, “Although these cancers are often referred to as inherited cancers, what is actually inherited is the abnormal gene that can lead to cancer, not the cancer itself. Only about 5% to 10% of all cancers are known to be strongly linked to gene defects (called mutations) inherited from a parent.”


Now, back to what you can do to educate and empower yourself with you or your family members diagnosis using the R.E.A.D.Y. Framework:


BEFORE TESTING:

R = Recognize the Possible Risk

  • Seek healthcare professionals to weigh risk factors. Have a conversation with your primary physician - share your concern that you feel you need the testing to better understand your risk and that you want to do what you can to mitigate your risk. In fact, at this point, you may be asking yourself what are the signs of an inherited mutation linked to cancer risk. The signs are 1) If a blood relative has been diagnosed with cancer, it may due to an inherited mutation so you’ll need to know if they ever tested positive for a genetic mutation or 2) if you or your family members have had multiple types of cancer or specific types of cancers, especially at a young age; 3) other signs might be history of colon polyps, or if you have Eastern European Jewish ancestry. This is not a comprehensive list so I recommend you see the full list on FORCE’s website, https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer/signs-of-inherited-mutations.


  • The physician or geneticists is going to need to understand family history, environmental exposure, and potential genetic markers. This may take some time, especially if you do not have family members to speak to or gather historical information from. In my case, my parents are deceased so I had to lean on my aunt who thankfully happens to be the self-imposed family historian.


  • Also, I know this can be a difficult topic for some families since there is often a generational difference when it comes to sharing private information like a cancer diagnosis. My suggestion, don’t push it - you can share basic information with the geneticist or even say you’re not 100% positive but may simply be aware there was a cancer diagnosis. They’ve often worked with much less, so don’t feel you need to have all of the details before scheduling the meeting. They’ll work with what you have to make their assessment. Recognizing risks can lead to better preparedness. Dive deeper at facingourrisk.org or cancer.org.

DURING TESTING:

E = Educate & Engage

  • Educate: Understand the nuances of the test. Organizations like FORCE and the American Cancer Society can help decode complex terms. In fact, FORCE has a terrific resource on their website - facingourrisk.org. From their home page there is a tab titled “I’ve tested positive, now what?” Take time to read through the first box that includes "Making sense of genetic test results, Information about your gene mutation, Assembling your healthcare team, Making medical decisions about risk and a great video, Video: ABCs of Cancer Genetics. There is also a wealth of information surgeries, fertility, wellbeing, research, support information and so much more.


  • Engage: As results roll in, engage with specialists. This is important since it can often take weeks or even months to get into to see a specialist. This also gives you time to learn more about your specific mutation. Again, use the resources above so you walk into the appointments fully armed with questions and concerns. You’ll want to seek out genetic counselors (or engage further with the counselor providing the testing), oncologists, surgeons, and other professionals who understand the complexities of hereditary cancer syndromes.


  • Lean on online groups for communal support. There are several groups on Facebook dedicated to specific mutations, just search by your mutation and you’ll likely find several groups to join. I am in two Lynch syndrome groups, as well as a CHEK2 support group. During my testing phase, I found solace in online groups. Their shared experiences, advice, and encouragement made the journey smoother. What I love about the groups is that there is no question that is unreasonable and I’ve never had an experience where I felt my question was not treated with respect. I truly made me feel like I wasn’t alone in this journey.


A = Act on Prevention & Early Detection

  • While you’re still in the genetic testing process and learning more about your specific mutation, I can all but guarantee you will be feeling lost and worried about what you could’ve done differently. Keep reminding yourself that a genetic mutation is just that - something you’ve inherited from your parents like your hair or eye color. However, it may also cause you to look a little closer at what you can do to act on prevention and manage early detection. It’s about proactively creating a game plan.


  • As far as Prevention goes: Discover lifestyle adjustments to support potential outcomes. Some examples are dietary changes such as reducing your processed meats and other foods, adding more fruits and vegetables to your diet; it also includes preventive surgeries to eliminate or reduce your risk. We will discuss more about my preventative surgery in future episodes but will briefly share that I had a total hysterectomy and because of my family history, I had a bilateral A bilateral salpingo-oophorectomy is surgery to remove both of your ovaries and fallopian tubes. Other measures can be planned so be sure to discuss more with your physician or specialist.


  • Early Detection: A major medical approach available to people at high risk is screening that uses tests to find cancer in its early stages, when it is most treatable. According the FORCE, “Experts have developed screening and prevention guidelines for people with certain inherited gene mutations or cancer syndromes, which are different than guidelines for people at average risk for cancer.” I’ll have more information from their website but will share a few examples: Note this list is not exhaustive but common screenings for hereditary cancer syndromes. These may be screenings you’re already doing such as an annual skin check with a dermatologist or a mammogram for women. If that is the case, your doctor may recommend adding an annual breast MRI as well. Also, depending on your risk, you may need to increase the frequency of colonoscopies or endoscopies; or for men, you may need to have an annual exam and PSA test. Please visit the FORCE website for specifics by cancer type or by gene type (https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/HOXB13/risk-management).

AFTER TESTING:

D = Discuss & Decide

  • Plan to engage in dialogues with healthcare professionals about your results and together you can develop a tailored action plan. Building a strong medical support team is crucial for previvors. Engage with healthcare providers who specialize in genetic oncology and have experience managing hereditary cancer risks. They will guide you through screenings, surveillance, and interventions tailored to your specific needs. You can find these resources through you primary physician or you can ask for referrals from family, friends or support groups.


  • Now I want to emphasize "shared decision-making”. Everyone's journey is unique, so decide what’s best for YOU. Post my testing, I became my own health advocate, working with professionals to chart out my path forward. Since my primary doctor did not have any experience with hereditary cancers syndromes, we had to work together to find the right providers. While she helped find my breast specialist whom led me to genetic testing in the first place, I ended up finding my gynecology oncologist through one of the Lynch Syndrome Facebook Groups and couldn’t have been happier with the recommendation. Also, I was already seeing a dermatologist, as well as a gastroenterologist due to our family history of colon cancer.


  • Here’s a key point to all of this: You have to take the reins. Do not rely on your primary doctor to manage YOUR plan 100% of the time. Keep a notebook or take notes on your smart phone to keep track of your plan. In fact, I will be working on a screening tracking template in the coming months. More to come!


Y = You Have the Power

  • Own the results. Be the captain of your health journey and embrace every twist and turn with confidence. After receiving my results, I felt a mix of emotions. But I channeled that energy into empowerment. I also tried to influence my family, urging them to understand their genetic landscape and even became an advocate for genetic awareness!


  • Prioritize balance in life. Celebrate the highs such as a good outcome of a screening; seek support from your family, friends and support groups during the lows. In fact, every phase of genetic testing—before, during, and after—carries its set of challenges and emotions. But with the R.E.A.D.Y. Framework, you have a trusty guide. Equip yourself with knowledge, lean on a supportive community, and pen a story of empowerment.


Closing: Our genetic code is unique, as is our journey with it. With the R.E.A.D.Y. Framework by your side, that journey becomes an empowered saga. If you’d like to learn more or interested in having me speak about the READY Framework and living with a hereditary cancer syndrome, please visit my website a click on the “Speaking” link. You can also find more information from this episode on the episode blog at sarakavanaugh.com or see the show notes for more details. Until next time, stay tuned, stay positive!

Links referenced in this episode:


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