Inside Precision Medicine Podcast: Population Genomic Screens Need More Than Pathogenic Variants

At Helix, we're always excited to share insights from our team of experts, especially when they offer unique personal perspectives. Recently, our Medical Director, Dr. Cassie Hajek, MD, was featured on the "Behind the Breakthroughs" podcast by Inside Precision Medicine, where she not only discussed crucial topics in population genomics but also shared valuable personal experiences.

In the episode titled "PSA on PRS: Population Genomic Screens Need More Than Pathogenic Variants," Dr. Hajek offers a blend of professional expertise and personal insights, offering relatable knowledge and perspective.

Key Takeaways:

Limitations of Current Screening

Drawing from her own clinical experience, Dr. Hajek highlights the challenges she's faced when current population genomic screening programs focus solely on pathogenic variants.

The Power of Polygenic Risk Scores (PRS)

Dr. Hajek shares personal anecdotes about how incorporating PRS has influenced her approach to patient care and risk assessment. Through real-world examples from her practice, Dr. Hajek illustrates the importance of considering both rare pathogenic variants and common variants for a more complete risk profile.

Clinical Utility and Implementation

Dr. Hajek candidly discusses the hurdles she's encountered and overcome while integrating genomics into her clinical practice, offering valuable insights for other healthcare providers.

Future of Precision Medicine

Based on her firsthand experiences, Dr. Hajek shares her personal vision for the future of genomic screening and how it could transform patient care. She weaves her personal journey and experiences throughout the discussion, allowing her insights to go beyond theoretical knowledge, to offer a glimpse into the real-world application and impact of these genomic advancements.

As leaders in population genomics, we at Helix are fortunate to have team members like Dr. Hajek who can provide such rich, experience-based perspectives. Her personal insights reflect our commitment to not just advancing the science, but also understanding its practical implications in healthcare settings.

We encourage everyone interested in the future of precision medicine to listen to the full podcast. It's an excellent resource that combines expert knowledge with real-world experiences, making it invaluable for healthcare professionals, researchers, and anyone curious about the evolving role of genetics in healthcare.