Rare Disease Day 2021 | Free Genome Interpretation and Analysis
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NEWS & PRESS

Fabric Genomics Offers Genome Interpretation and Analysis for 46 Patients in Honor of Rare Disease Day

Date: February 25, 2021

(Updated April 6, 2021 – Thank you for your interest in Fabric Genomics’ RareTogether Renanlysis Program.  Fabric is commited to supporting rare disease patients and shortening diagnostic odysseys.  Due to a high response we are not currently accepting new cases for reanalysis) 

Fabric Genomics, a global leader in clinical interpretation of genomic data, announced today an offering of free genome interpretation and analysis for 46 patients with rare disease. In the hope of relieving the burden for some patients on a diagnostic odyssey, Fabric Genomics’ staff of bioinformaticists and geneticists will analyze the whole genome sequence or whole exome sequence data free of charge for 46 patients. The historical average of diagnostic yields from sequencing has been only 30-40%. Leveraging our novel GEM algorithm, we can bring answers to many patients who have been sequenced but have not secured a diagnosis.

Our goal at Fabric Genomics is to democratize access to the expertise of leading geneticists by incorporating knowledge from multiple disciplines and sources into software that can be used broadly, and in this way to end diagnostic odysseys for more patients. Scientific advances and both clinical and patient education are needed to bring diagnoses to every patient that needs it — an estimated 3-5% of all individuals on the planet, a stunning 350M people. While a small step, this program in honor of Rare Disease Day and all the patients still on a diagnostic odyssey is another way the Fabric team can contribute to this community.

Driving N-of-1 treatment to millions is Fabric’s mission, not just for rare disease but for hereditary risk, cancer, and even newborn screening, to enable healthcare providers everywhere to provide best-of-class care to anyone anywhere, using distributed IT systems.

“At Fabric Genomics, we are energized by the opportunity to make a meaningful difference in the lives of patients. In honor of those patients everywhere, we are happy to contribute not only our software but our time to bring hope to more patients,” said Martin Reese, Ph.D., Co-Founder, and CEO of Fabric Genomics. “Knowing that we have the technology and knowledge to end the diagnostic odyssey for patients has motivated this program.”

Doctors who want to enroll their patients in this program should email RareTogether@fabricgenomics.com.

About Fabric Genomics

Fabric Genomics is making genomics-driven precision medicine a reality. The company provides clinical-decision support software that enables clinical labs, hospital systems, and country-sequencing programs to gain actionable genomic insights, order-of-magnitude improved diagnostic yields and turnaround time. Fabric’s end-to-end genomic analysis platform incorporates proven AI algorithms and has applications in both hereditary disease and oncology. Headquartered in Oakland, California, Fabric Genomics was founded by industry veterans and innovators with a deep understanding of bioinformatics, large-scale genomics, and clinical diagnostics. 

To learn more, visit fabricgenomics.com and follow us on Twitter and LinkedIn.

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