Podcast: Season 1

Episode 15 – When Guidelines Aren’t Good Enough: Data That Demands Universal Access to Genetic Testing

In This Episode

For decades, genetic testing was rationed—reserved only for patients who fit narrow, outdated clinical guidelines. But what happens when those guidelines leave countless people at risk? In this episode, clinical geneticist and medical innovator Dr. Ed Esplin of LabCorp Genetics, reveals how his team’s groundbreaking research exposed the flaws in restrictive testing policies. Through rigorous studies in breast cancer, colorectal cancer, and beyond, they proved that universal germline genetic testing identifies far more at-risk patients than guidelines ever predicted and fundamentally changes how we treat and prevent disease. 

The battle wasn’t just scientific. It was systemic. Dr. Esplin shares how irrefutable data challenged institutional gatekeeping, from insurer denials to skeptical clinicians. The data has forced a reckoning: when up to “50% of high-risk patients were being missed”, “standard of care” was anything but standard care. Hear how landmark trials like INTERCEPT and collaborations with Mayo Clinic turned the tide, proving that equitable access wasn’t just ethical—it was medically necessary. 

Today, Dr. Esplin’s mission continues: to dismantle barriers wherever they persist. From community oncology clinics to rare disease diagnostics, he makes the case that access to genetic insights should be driven by evidence, not just eligibility criteria. For patients, advocates, and providers alike, this episode is a playbook for turning data into action, and a reminder that when guidelines lag behind science, it’s time to rewrite them. 

Find references and other helpful information at GeneReviews.org

Genetics for Healthcare Podcast is a series focused on raising awareness about Precision Medicine through diverse topics, all presented in a way that resonates with patients. Our mission is to empower you to be your own advocate in the healthcare world.
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