When I received the results of my genetic testing — confirming that I carried mutations in both CHEK2 and MSH6 associated with hereditary cancer risk — I was healthy. I had no diagnosis, symptoms or frame of reference for what came next. I now know I was a "previvor," but I didn't have that language or clarity at the time. What I did have was a report in my hand, a rising sense of fear and a thousand questions I didn't know how to ask.

In the years since, I've talked with many others who have faced the same life-changing moment. Some freeze in place, paralyzed by the weight of uncertainty. Others look away, hoping avoidance will bring peace. And some, like me, dive in headfirst, researching, networking, scheduling appointments and searching for control. Regardless of the path, what we all share is this: learning about a hereditary cancer risk alters the way you see your future. And that moment is often shaped as much by the delivery of information as the information itself.

I was fortunate to work with a knowledgeable and empathetic genetic counselor who guided me through the basics of my results. But looking back, I wish I had been offered a phased approach that allowed time to process the initial emotional shock before diving into all the medical options and implications. I didn't fully grasp what the MSH6 or CHEK2 mutations meant for me or my family in that initial conversation. I didn't know how these mutations would affect my screening routines, surgical decisions or sense of identity.

Genetic counselors are uniquely positioned in the health care landscape. Unlike primary care physicians, who are often limited to 15-minute appointments, genetic counselors often have more time to develop rapport and offer context. In many ways, you become a patient's first guide in unfamiliar terrain. You may not walk the whole path with them, but your role at the beginning can either open the door to understanding or leave it slightly ajar, with confusion seeping through the cracks.

As a patient advocate and podcast host, I now hear from individuals at every stage of this journey. One pattern is clear: those who feel most confident about their next steps are not necessarily the ones with the fewest risks. They're the ones who felt heard, had information repeated and reinforced over time, and were offered manageable next steps, not a firehose of facts to process all at once.

That's one reason I started creating tools to help others understand what comes next. As someone who needs structure to feel grounded, I developed a simple acronym — R.E.A.D.Y. — that I now weave into my communications and podcast episodes. It's designed to help people recognize, educate, act, decide and remember: you have the power — even when the path ahead feels uncertain.  It's not a clinical guide, but a way to organize the messiness of those early days into something manageable. It encourages people to reflect on their values, take things step by step and remember that they don't have to do it alone.

Genetic counselors can play a pivotal role in helping patients build their versions of that framework. Consider offering your patients the option for a follow-up session, not just for family testing logistics, but to revisit the emotional and practical questions that always come after the dust settles. Provide curated resources in manageable chunks. Offer permission to pause before making big decisions. And validate that shock, overwhelm or even skepticism are normal responses to life-altering information whenever possible.

Today, through my podcast “The Positive Gene Podcast,” I share stories and resources to help others feel less alone in this process. I speak with patients, researchers, clinicians and advocates about navigating genetic risk in real life, not just in clinical terms, but with family, identity and emotion in the mix. It's a small contribution, but one that echoes what genetic counselors have always done best: translating complexity into clarity, and guiding people from fear toward confidence.

To those working in genetic counseling: thank you. You may not always see the long-term ripple effects of your work, but they are there. Every moment of compassion, every pause to answer a question twice, every patient you invite to take a breath before taking their next step — it matters more than you know.

 

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