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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
About this update from Opko Health, Inc.
[{"type":"text","content":"New research underscores the value of sharing genomic information to advance gene matching for diagnosis and discovery\nGAITHERSBURG, 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.\n\n \n \n \n \n \n \n\n \nThe 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.\nFurther, 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.\n\"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...