Why Genetic Testing Saves Lives: Lessons from a Lynch Syndrome Survivor

Written by Wenora Johnson, 3x Cancer Survivor, Lynch Syndrome Patient, Patient & Research Advocate, NRG Patient Advocate Committee Member

March is Colorectal Cancer Awareness Month, a time to talk about prevention, screening, and early detection. But for millions of people and families affected by hereditary cancer, including Lynch Syndrome, awareness must go deeper. It must include genetic testing, timely screening, and listening to patient voices.

As a three-time cancer survivor and a Lynch Syndrome patient, I know firsthand how knowing, or not knowing your genetic risk can change everything.

When You Don’t Know What You’re Up Against

Like many patients, my cancer journey did not begin with a clear understanding of genetic risk. It began with routine care, a simple FIT test, and what seemed like an ordinary screening moment.  That test helped detect Colorectal Cancer early, which ultimately saved my life. But it was only later, after multiple cancer diagnoses, that I learned I had Lynch Syndrome with an MSH2 mutation, a hereditary condition that significantly increases the risk of Colorectal, Endometrial, and other cancers.

Had genetic testing been offered earlier, the course of my healthcare might have looked very different. Earlier surveillance. Earlier prevention strategies. Earlier conversations for my family members who also carry a 50% risk.

Too often, genetic testing is treated as optional or reserved for “high-risk” patients, without fully recognizing that family history is frequently incomplete, unknown, or dismissed. The result is delayed diagnoses, missed prevention opportunities, and lives put at unnecessary risk.

When You Know, You Can Act

Knowing your genetic risk is not about fear, it’s about power.

For individuals with Lynch Syndrome, genetic testing opens the door to:

• Earlier and more frequent screenings
• Risk-reducing strategies
• Informed decision-making
• Cascade testing for family members

In my case, knowing my Lynch Syndrome diagnosis transformed how I engage with my healthcare team. Surveillance is no longer reactive, it is proactive. Screening is not something I fear; it is something I rely on.

This knowledge also allowed me to advocate for myself, my brother, participate in research and clinical trials, and share my story so others don’t have to learn the hard way.

The Role of FIT Tests, Screening, and Early Detection

Screening saves lives…period.

FIT tests, colonoscopies, and guideline-based surveillance are critical tools, especially when paired with genetic awareness. My own Colorectal Cancer was detected because of a FIT test ordered during a routine visit. That early detection changed my outcome.

However, screening alone is not enough if we fail to ask why someone is at risk in the first place.  Genetic testing provides context. It helps clinicians tailor screening schedules and ensures patients receive care aligned with their actual risk, not average risk.

For Lynch Syndrome patients, early and consistent screening can mean the difference between prevention, early-stage diagnosis, and advanced disease.

A Message for Research Investigators: What Patients Like Me Need You to See

If you are a research investigator reading this, my story is not just personal, it is data.

Patient experiences like mine highlight persistent gaps in hereditary cancer research, including:

• Delayed or missed genetic testing
• Underrepresentation of hereditary cancer patients in trials
• Limited real-world data on long-term survivorship and surveillance burden
• Recruitment strategies that fail to reach patients before or between diagnoses

Lynch Syndrome patients often engage with the healthcare system for decades. We undergo repeated screenings, navigate multiple cancer diagnoses, and manage the mental and emotional load of lifelong surveillance. Yet many trials are designed without accounting for this reality.

Expanding eligibility criteria, incorporating genetic risk earlier in study design, and partnering with advocacy organizations can significantly improve recruitment and retention. Clear, patient-centered language and flexible trial designs matter, especially for individuals balancing work, family, and ongoing medical care.

Most importantly, engaging patients as partners, not just participants, can strengthen research questions, improve feasibility, and ensure outcomes that truly matter to those living with hereditary cancer risk. When researchers listen to lived experience, research becomes more inclusive, more relevant, and more impactful.

What Needs to Change

Despite clear evidence, genetic testing remains underutilized. Barriers include lack of provider awareness, inconsistent guidelines, limited access, and inequities across healthcare systems. We can and must do better!

For families:
Ask questions. Know your family history. Advocate for genetic counseling and testing, especially if there is a history of Colorectal, Endometrial, or related cancers. I call this Generational Health, which is way more valuable than generational wealth.

For healthcare providers:
Listen to your patients. Take family history seriously. Normalize genetic testing as a routine part of cancer care and prevention, not an afterthought.

For researchers, policymakers, and healthcare leaders:
Invest in genetic testing access, patient-centered research design, and education across the care continuum. Remove financial and structural barriers that delay testing and limit trial participation.

Why I Advocate

As a three-time Cancer Survivor, advocacy is not optional, it is personal. I share my story to honor those who were diagnosed too late and to protect those who don’t yet know they are at risk.  Genetic testing doesn’t just save lives, it changes them.

This Colorectal Cancer Awareness Month, let’s move beyond awareness alone. Let’s commit to action. Because when people know their risk, they can take control of their health, and that knowledge can save lives.