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GeneDx CEO on rare disease diagnosis: Earlier testing gives families and clinicians more options
CNBC Television· 2025-07-30 12:38
Financial Performance - G&DX surpassed $100 million in revenue for the first time in its most recent quarter [1] - Exo and genome testing sales were up by 69% [2] - The company is raising its guidance for the fiscal year [1] - The company flipped to a profit from a loss in the previous quarter [2] - The company gets paid about $3,700 per test by most insurance companies [9] Industry Dynamics & Market Focus - G&DX focuses on diagnosing children with rare diseases, addressing the problem of delayed diagnosis, which currently takes an average of 5 years [3][4] - The company aims to raise awareness and improve access to testing for clinicians and families [4] - G&DX can deliver answers within weeks, if not hours, reducing the diagnostic odyssey [5] - The company has reduced the cost and turnaround time for whole genome sequencing, now able to do it in 48 hours [6] - G&DX is focused in the pediatric neurology segment, testing for epilepsy, autism, developmental delay, and cerebral palsy [19] Technological Advancement & Data Analysis - G&DX has run 850,000 exosomes and genomes, enriched for rare diseases [10] - The company is making new gene disease discoveries almost on a weekly basis [9] - G&DX has accumulated a rich genotypic data asset, running tests on parents 60% of the time [11] - The company has 7 million phenotypic data points, including clinical notes, to upgrade or downgrade variants of unknown significance [12]