In the latest episode of The Genetics Podcast, Patrick spoke with Lisa Gurry, Chief Business Officer at GeneDx. The conversation focuses on how GeneDx has built a scalable clinical genetics platform, how genomic newborn screening is being evaluated in real-world programs, and how large-scale genomic and phenotypic data improve interpretation and long-term patient care.
Lisa joined GeneDx after a career spanning technology and healthcare data. She spent more than two decades at Microsoft in product and general management roles and later co-founded a health data company focused on using large-scale clinical data to improve care delivery.
She decided to join GeneDx after meeting CEO Katherine Stueland and aligning closely with the company’s mission to shorten the diagnostic journey for children with rare disease. Lisa describes the role as an opportunity to apply technology, data, and operational discipline to a problem where earlier answers can significantly improve outcomes for families.
GeneDx is a clinical genetics company focused on diagnosing rare diseases, particularly in pediatric populations. The company has operated for approximately 25 years and originated as a research initiative within the US National Institutes of Health.
Today, GeneDx provides clinical exome and genome testing alongside a broader portfolio of genetic diagnostics. Over its lifetime, the company has tested more than 2.5 million individuals and sequenced over 1 million exomes and genomes. The central objective of this work is to deliver accurate diagnoses as early as possible, reducing the years-long diagnostic odyssey many families experience.
In parallel, GeneDx has contributed extensively to genomic research, publishing more than 1,000 peer-reviewed papers and working closely with clinicians, researchers, advocacy organizations, and biopharma partners.
GeneDx Infinity is the company’s genomic and phenotypic data platform. It integrates sequencing data with more than 7 million curated phenotypic data points collected through clinical testing.
Lisa explains that this combined dataset supports improved variant interpretation, discovery of new gene-disease relationships, and research applications including drug development and clinical trial design. The platform also enables reanalysis over time, allowing patients and clinicians to benefit as scientific understanding evolves.
GeneDx is actively involved in several genomic newborn screening initiatives designed to evaluate clinical impact and health system value.
Lisa highlights the Guardian study, which screened 20,000 healthy newborns and identified a positive genetic finding in 3.2% of infants. Notably, 92% of those diagnoses would not have been detected through standard newborn screening methods.
She also discusses the NIH-funded BEACONS initiative, which spans 10 US states and aims to sequence 30,000 newborns to assess health outcomes and economic impact. In addition, GeneDx supports Sunshine Genetics in Florida, the first state-backed program offering genomic newborn screening to all newborns in the state.
Across these programs, the goal is to generate evidence showing that early genetic diagnosis improves care while reducing long-term healthcare costs.
Lisa emphasizes that sequencing itself is no longer the primary bottleneck in genomic medicine. The greater challenge lies in interpretation and in making results clinically actionable.
GeneDx addresses this by combining large-scale data with clinical expertise. The company employs more than 100 MDs and PhDs and over 150 genetic counselors who participate directly in variant interpretation and result reporting. This human expertise, paired with data and AI-driven tools, helps reduce uncertainty and improve diagnostic confidence for families.
Lisa also stresses the importance of reanalysis. A genome sequenced once can be reinterpreted repeatedly as new gene-disease associations are discovered, providing ongoing value across a patient’s lifetime.
GeneDx Infinity also enables collaboration with biopharma companies and patient advocacy groups. Lisa highlights a recent partnership with Jaguar Gene Therapy focused on specific forms of autism, where sponsored genetic testing helps identify patients and generate data to support future therapeutic development.
She notes that advocacy groups often play a critical role in connecting patients, clinicians, and researchers, helping ensure that genetic insights translate into clinical trials and new treatment options.
Looking forward, Lisa is focused on expanding access to genetic testing, educating clinicians and families on its value, and continuing to unlock insights from large-scale genomic data.
She sees opportunities to improve care across conditions such as epilepsy and autism, where genetic insights can guide earlier and more precise treatment decisions. For Lisa, the long-term goal is a healthcare system where genomic information supports care from birth onward, improving both quality of life and health outcomes.
Listen to the full episode below.