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Diagnomics Introduces ACMG 59 Reports for Personalized Genetic Testing

SAN DIEGO, Jan. 17, 2019 /PRNewswire/ -- Diagnomics, a leading genetic testing company, has developed a new ACMG 59 report that is available to healthcare providers and their patients to complement Diagnomics' portfolio of Personalized Genomics. Diagnomics has partnered with Fabric Genomics to use Fabric Enterprise, its clinical decision-support platform, to generate clinical insights for the report. Fabric Genomics is the leading provider of genomic interpretation and clinical decision-support software. Their end-to-end software platform provides accurate interpretation for hereditary disease and oncology and allows management and scaling up of genetic workflows from initial testing to final reports. This joint initiative between the two companies is another achievement in making preventive care and personalized medicine widely available across multiple platforms that support genomic solutions.

"At Fabric Genomics, we are passionate about enabling clinical genomic testing at scale," Martin Reese, Ph.D., CEO of Fabric Genomics commented. "We are excited to announce our partnership with Diagnomics with this first ACMG 59 report, which provides clinical insights across a number of actionable genes and related conditions."

The report offers insights on pathogenic and likely pathogenic variants found within the set of 59 core health genes as recommended by the American College of Medical Genetics and Genomics (ACMG). The analysis is generated from Illumina's Global Screening Array-based assay and other clinical genomic data. Detected variants are evaluated using genotype quality, minor allele frequency, and curated clinical databases for pathogenicity. The genes included in this report adhere to ACMG's secondary findings recommendations, most recently updated on November 2016.

Although these recommendations were previously reserved for special cases of high-risk patients, Diagnomics has taken a clinically innovative approach in making the ACMG 59 accessible to all patients. The availability and transparency of information between physicians and patients will play a critical role in supporting clinical decision-making, which will have a significant impact on saving lives, leveraging resources, and lowering healthcare costs.

"We continue to invest in personalized genomics analysis capability and are delighted by our collaboration with Fabric Genomics," Byung-In Lee, Ph.D., CEO of Diagnomics announced. "We have applied innovative strategies to make an expansive test panel both accessible and affordable for clinical use."

Diagnomics' mission to bridge preventive medicine and genetic testing with actionability has engendered the advancement of clinical resources for healthcare providers in empowering their patients to be proactive and make informed decisions concerning their care. The ACMG 59 report serves to highlight the company's commitment to accessibility and applicability of personalized genomics to the individual and the healthcare community.

About Diagnomics, Inc

Diagnomics, Inc. is a trusted provider of innovative genetic testing platforms for both organizations and individual consumers. Diagnomics strives to deliver confidence and reliability by offering comprehensive genomic solutions for the development of personalized healthcare and precision medicine in the global genomics market. Diagnomics is a CLIA-certified, CAP-accredited laboratory providing genetic testing platform services and highly secure HIPAA-compliant cloud-based analysis solutions. To learn more, visit

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Last Updated: 20-Jan-2019