GeneDx Celebrates 20 Year History as Pioneer In Genetic Sequencing and Testing

GeneDx, a global leader in genomics and patient testing, is celebrating its remarkable 20th anniversary throughout the month of March.

The Gaithersburg, Maryland company has played an important role in the history of genetic sequencing and the rise of the BioHealth Capital Region as a global biohealth cluster. GeneDx was the very first company to commercially offer NGS (Next Generation Sequencing) testing in a CLIA (Clinical Laboratory Improvement Amendments) lab and has been at the leading edge of genetic sequencing and testing for two decades. The company’s whole exome sequencing program and comprehensive testing capabilities are world-renowned.

In its storied 20 year history, GeneDx has provided genetic testing to patients in over 55 countries. The company is known globally as world-class experts in rare and ultra-rare diseases.

From Incubator to Acquisition and Beyond

In 2000, GeneDx was founded by former National Institutes of Health (NIH) scientists Dr. Sherri Bale and Dr. John Compton. These two genomics experts and thought leaders started GeneDx to complete an important mission: To provide rare and ultra-rare disease patients and families with diagnostic services that were not commercially available at that time.

Prior to launching GeneDx, Bale spent 16 years at NIH, the last nine as Head of the Genetic Studies Section in the Laboratory of Skin Biology. She has been a pioneer during her storied career, publishing over 140 papers, chapters and books in the field. Her 35-year career includes deep experience in clinical, cytogenetic, and molecular genetics research.

Before partnering with Bale to form GeneDx, Compton was an investigator at the Jackson Laboratory, and for the last nine years as a senior scientist in the Genetics Studies Section at the NIH. Compton’s work on the molecular genetics of inherited skin disease and expertise in laboratory methodology is known throughout the world. Compton has remarkable experience in the development and application of molecular biological techniques to answer questions about genetics and epidermal differentiation.

GeneDx, like many successful BHCR life science companies, had a humble start, operating initially out of the Technology Development Center incubator. Just six years later, GeneDx was acquired by Bioreference Labs for approximately $17M.

From there, the company launched its first array CGH (Comparative Genomic Hybridization) or aCGH test in 2007. An array CGH is also called microarray analysis, which is a “…a technique enabling high-resolution, genome-wide screening of segmental genomic copy number variations…” (NIH). By 2008, GeneDx had launched its Cardiology Next Generation Sequencing Panel and by 2011 the company had commercialized its neurology testing program. In 2012, GeneDx launched its Whole Exome Sequencing (XomeDx) for which it has become so well known in the genomic field. A year later its Inherited Cancer Panels hit the market. 2018 saw the company achieve a significant milestone when it announced it had performed clinical Exome Sequencing on more than 100,000 individuals.

Both Bale and Compton have since retired and GeneDx is currently led by Chief Medical Officer Dr. Gabriele Richard; Chief Innovation Officer Kyle Retterer, MS; Rhonda Brandon, MS

Chief Information Officer; and Dr. Sean Hofherr, FACMG, CLIA Laboratory Director & Chief Scientific Officer.

GeneDx has come a long way from its incubator headquarters over the past two decades. With over 450 employees, the company continues to deliver on its mission to provide crucial diagnostic genetic testing capabilities to patients and families across the globe.

Happy Anniversary GeneDX. Here’s to many more. 

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Steven Surdez

Principal at StoryCore
Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.

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