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The Positive Gene Podcast- Ep#8: A Candid Guide to Genetic Testing Choices: Four Key Considerations

Updated: Nov 21, 2023

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


Hello and welcome, everyone! I'm Sara Kavanaugh and this is The Positive Gene Podcast, and today, we're discussing a patient’s perspective on ‘Five Essential Considerations for Genetic Testing’.

I want to make it clear: I'm not here to sway your opinion for or against genetic testing. Think of this journey as a path with many turns, one that's deeply personal and unique for each of us. My own experience with genetic testing led me down roads I never expected – it brought challenges like my hysterectomy and thyroid surgery, but it also opened doors to advocacy work, launching this podcast, and speaking about taking control of your health. But remember, my role here is to present a balanced view. These are insights and considerations I wish I had fully understood before my own genetic testing journey. I'm here to share these learnings, offering you unbiased, comprehensive insights, so you can see all sides of this important issue and make informed decisions about your own health journey.

In the world of genetic testing, especially concerning hereditary cancer, it's crucial to approach the subject with a clear and informed perspective. To guide our exploration in this vast library of genetics, we'll focus on 'Five Essential Considerations' that anyone thinking about genetic testing should reflect upon. These considerations are designed to help you navigate this important decision with confidence and clarity.

Before we jump into our discussion today, there's something important I need to mention. While we talk about genetic testing, it's crucial to distinguish between comprehensive cancer genetics testing done through a genetic counselor and what you might find with consumer genetic testing products. The comprehensive tests done by professionals are more detailed and cover specific genes that might be missed in consumer tests. Plus, they come with the invaluable support and guidance of genetic counselors.

And just a quick reminder: I’m not a medical expert. My insights come from my personal journey as a hereditary cancer previvor and advocate. This podcast is here to share experiences and knowledge, but always consult with healthcare professionals for your health decisions.

Ok, back to our five considerations… They are:

  1. Why Test or Not: Exploring reasons behind the decision to undergo or skip genetic testing.

  2. What Matters to You: Ensuring your decision about genetic testing aligns with your personal beliefs and life goals.

  3. Expert Guidance: How genetic counselors can help you through the testing process.

  4. Weighing the Options: Understanding the benefits and drawbacks of genetic testing.

  5. Handling the Emotions: Getting ready for the feelings that might come with genetic testing.

Why Test or Not:

Let’s take a moment to chat about what drives us toward or away from genetic testing. For me, it began with a mix of worry and the need to know more about my health because of my family's history with cancer. This push for deeper answers is something many of us feel, especially when we're faced with the possibility of hereditary cancer.

But it's not a clear-cut decision for everyone. Some of us might hold back because of the heavy emotions that come with the results, like anxiety or stress. Privacy concerns and the fear of discrimination at work or by insurance companies, despite legal protections, can also weigh on our minds.

There's also the real chance that the results might not be black and white, leaving us with more questions than answers. Not to mention the impact this knowledge could have on our families, the cost, and even getting to a place where testing is available. And let's not overlook our personal beliefs—some folks might prefer to deal with health issues as they come, not before.

On the flip side, there are plenty of strong reasons to consider genetic testing. Beyond my own curiosity and wanting to take charge of my health, genetic testing can be a game-changer for proactive health management. It's about getting ahead of the risks, making smart choices for your future well-being.

Making informed decisions about medical care is another big one. Say you're at risk for BRCA1 or BRCA2 mutations—knowing this could lead you to opt for preventive measures. Thinking about starting a family? The insights from genetic testing can help you make informed decisions there, too.

Then there's the peace of mind that can come with knowing your genetic risk. It's like closing a book filled with ‘what-ifs.’ And if you do test positive for a mutation, it often opens doors to dedicated healthcare resources and support systems.

So, as we peel back the layers of personal motivation behind genetic testing, we find a complex interplay of fears, hopes, practicalities, and the human desire to know oneself. It’s about balancing these factors against what we value most and making the choice that’s right for us.

What Matters to You:

In fact, when it comes to deciding about genetic testing for hereditary cancer, it really boils down to our second point - what’s important to you and what you believe in. Some of us like to be in the driver's seat when it comes to our health, seeing genetic testing as a way to stay ahead and make smart choices for the future. It's about matching this decision with what you stand for. If you're someone who likes to call the shots and be prepared, knowing your genetic makeup can give you the power to plan better and take control of your health steps

On the other hand, things like religious beliefs or personal ethics can play a big role too. For some, if genetic testing doesn't fit with their spiritual beliefs or moral views, they might choose not to go for it. Also, think about your life plans and dreams. If you're aiming for a career or a lifestyle that could be affected by knowing your genetic risks, you might see genetic testing in a different light. In the end, deciding to get tested is a personal thing. It's all about how it fits with your way of looking at health, your freedom to make your own choices, your ethical views, and what you want for your future.

Expert Guidance:

Alright, so we've talked about our personal reasons and what we value. Now, let's shift gears a bit and get into the more hands-on part of genetic testing. This is where genetic counselors come into play. Think of genetic counselors as your personal guides in the world of genetics. They know the ins and outs of this stuff and can help make sense of what your genes might be telling you. If you're leaning towards getting tested, you'll likely meet with one of these pros. They're awesome at breaking down what your test results mean and how they could affect you and your family.

Weighing the Options:

Next up, we’re talking about informed decision-making…Making smart healthcare choices isn't just about knowing the science; it's about how this science fits with what you want and believe.

And one way to accomplish this is weighing the pros and cons of genetic testing. We’ve discuss several elements from both sides today so truly think about what's in it for you with genetic testing? On the bright side, it can really clear up questions about your health risks and guide you towards the right kind of healthcare. But, it's not a one-way street. You might find out stuff that affects not just you but your family too. Plus, while it's more available these days, it's not always cheap, and not everyone can get it done.

Handling the Emotions:

In fact, let’s turn our attention to something that's often left in the background when we talk about genetic testing: the emotional side of it. This journey is about more than just the technicalities; it's about how it impacts you emotionally.

Learning that you have a genetic mutation can be a lot to take in. It can stir up feelings about your identity, affect how you interact with your family, and influence major life decisions. Handling these emotions is a critical part of the process. It's about seeking support, taking the time to think things through, and being kind to yourself as you process this new information.

So, how do you approach this? The key is to arm yourself with as much knowledge as you can. Talk to healthcare professionals, and consider reaching out to organizations like FORCE ( and the National Society of Genetic Counselors ( for guidance and support. Then, reflect on this information in the context of what's most important to you.

Remember, it's completely okay to reevaluate your choices as you go along. Making decisions about your health isn't always straightforward. Sometimes, you might need to explore different avenues before you find the one that truly suits you and your situation.

Let's also consider the choice to not go for genetic testing. It's a valid decision, often about embracing life without the 'what-ifs.' For some, it's about living in the present, not overshadowed by potential future health issues. This approach means facing health challenges as they arise, rather than trying to predict them.

Not opting for testing can be a way to avoid the stress and anxiety that might come with knowing about genetic risks. It's a different way of managing uncertainty, focusing on the here and now rather than possible future scenarios. Remember, whether to test or not is deeply personal, and it's about what feels right for you in your journey.


As we come to the end of today’s discussion, I hope you’ve found these insights and considerations around genetic testing both enlightening and thought-provoking. Remember, the path of genetic testing, like any significant journey, is filled with its own set of challenges and rewards. My own journey has been a mix of unexpected turns, from dealing with medical procedures to finding a new purpose in advocacy and empowerment. But what’s most important is that each of us walks this path in our own way, armed with knowledge and understanding.

I encourage you to ponder these considerations, reflect on your own values and circumstances, and seek advice from professionals where needed. Your journey, whether it leads you towards genetic testing or in a different direction, is a deeply personal one, and it's crucial that it aligns with your beliefs, hopes, and dreams.

Thank you for joining me today. If my experiences and these discussions can illuminate your path, even just a little, then sharing my journey has been worth it.

Until next time, stay informed, stay empowered, and remember you have the strength to navigate your journey positively.

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