GeneDx Announces Discovery of 200 New and Expanded Genetic Conditions

New research underscores the value of sharing genomic information to advance gene matching for diagnosis and discovery

GAITHERSBURG, Md., March 16, 2022 /PRNewswire/ -- GeneDx, Inc., a leader in genomic analysis, today announced newly published research demonstrating the value of data sharing and research participation on a platform that supports clinician connections to rapidly uncover new gene-disease relationships, an approach which has resulted in publication of more than 200 new associations.

The research, published in Human Mutation, details the results of GeneDx's contributions to GeneMatcher, a genomic database designed to enable connections between clinicians and researchers. Despite the rapid advances of genetic medicine in the last 15 years, expanding knowledge about the connections between genetic variation and human health remains a critical need. Through GeneDx's contributions, at least 200 new associations have been published in the past three years, reporting either new disease-gene relationships or expanded clinical information for known disease-causing genes. A systematic approach that includes identifying candidate genes observed at the company's laboratory, helping support clinician-led research and following through to publication has yielded an important platform for expanding understanding of the links between genes and health.

Further, participation in GeneMatcher has helped patients and their families find answers that otherwise may not have been possible, by connecting them with researchers and confirming disease-gene relationships. For patients facing rare diseases, resolving uncertain findings or identifying new relationships that can confirm a diagnosis may mean the difference between years of testing and receiving an accurate diagnosis.

"We often talk about the importance of genomic information for establishing a diagnosis and unlocking access to precision therapies for individual patients. Our experience with GeneMatcher shows that is just the first step in the value testing creates. Patients and clinicians who participate in research pay it forward by spurring new discoveries," said Paul Kruszka, M.D., chief medical officer at GeneDx. "With thousands of rare diseases impacting millions of patients, establishing an effective approach to speed up the identification of disease-gene relationships and putting that knowledge to work to help patients is critical."

GeneDx's database of more than 300,000 clinical exomes has been a major driver of discovery. This dataset, supported by carefully annotated and structured clinical information, powers a potent diagnosis and discovery engine. Today roughly one-quarter of the clinically actionable findings provided to patients come from discoveries first made at GeneDx.

About GeneDx

GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. (NASDAQ: OPK). To learn more, please visit https://www.genedx.com.

CONTACT: Julie McKeough, JMcKeough@genedx.com

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SOURCE GeneDx, Inc.