Building Infinity™: How GeneDx Is Transforming Rare Disease Diagnosis
GeneDx’s AI-powered Infinity™ dataset is redefining rare disease diagnosis – bringing faster answers to patients.
For families affected by rare diseases, the search for a diagnosis can be long, uncertain and emotionally draining.
GeneDx is working to change that narrative.
As a leader in genomic diagnostics, the company is building a future where answers come faster. Central to this mission is InfinityTM, GeneDx’s ever-growing rare disease dataset, designed to redefine what’s possible in genomic medicine. Built from decades of data and powered by artificial intelligence, Infinity represents a major step toward equitable and precise diagnoses for patients worldwide.
In this interview, Technology Networks spoke with Dr. Bryan Dechario, chief operating officer at GeneDx, to find out more.
For unfamiliar readers, how would you describe GeneDx’s mission?
Bryan Dechario, PhD (BD):
GeneDx’s mission is to end the diagnostic odyssey for patients with rare diseases by delivering fast, accurate genomic insights. We diagnose more rare diseases than anyone in the world and are working to make genomic information available as early as possible – shifting healthcare from reactive to proactive care.
IE:
What problem(s) in rare disease diagnosis originally drove GeneDx to begin building what became Infinity?
BD:
Families affected by rare conditions often wait five years or longer for answers, a delay that can mean missed opportunities for treatment. Infinity was built to address that gap by creating the world’s most comprehensive rare disease dataset, enriched with diverse representation, to improve accuracy and equity in diagnosis.
IE:
Can you walk us through the journey of Infinity’s development – from early data collection to the dataset we see today?
BD:
Over the past 25 years, GeneDx has completed more than 2.5 million genetic tests, sequenced nearly 1 million exomes and genomes, paired with over 7 million phenotypic data points from real-world clinical practice. Each new test strengthens the dataset, and with recent advances like the MultiscoreTM, our AI-powered gene ranker, we’re able to deliver accurate results faster.
IE:
What were some of the biggest challenges you faced in building Infinity – scientific, technical or operational?
BD:
One challenge was ensuring consistent data quality at a massive scale, across highly variable patient populations and clinical settings. Another was overcoming the technical hurdles of variant interpretation, which GeneDx addressed by combining decades of curated clinical data with AI-powered tools to reduce uncertainty and accelerate analysis.
IE:
More than 50% of Infinity includes non-European representation. How has this improved accuracy in variant interpretation?
BD:
Historically, the underrepresentation of diverse populations has limited the accuracy of genetic testing. By including more than 50% non-European ancestry, Infinity reduces misclassification of variants and improves diagnostic yield across all patient groups – making results more reliable and equitable.
IE:
How do you plan to keep Infinity at the cutting edge as sequencing technology and clinical practice evolve?
BD:
Infinity grows stronger with every patient tested, continually validating new gene–disease relationships and clinical outcomes. We are also integrating AI language models and machine learning to scale interpretation, and our database continues to expand with every test we do.
