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 www.diagnomics.com.
Diagnomics has extended its product portfolio to include pharmacogenetic (PGx) reporting through a strategic partnership with Translational Software Inc. (TSI).
With over 710,000 genetic markers included in each genetic test, Diagnomics employs TSI’s high-throughput, evidence-based PGx platform to generate a comprehensive report on the tested individual’s anticipated drug response, metabolism and medication efficacy. The PGx report serves as a guide for both physicians and patients interested in pursuing a proactive approach and personalized experience with prescription drugs.
“We are delighted by our collaboration with TSI to bring forth the capability of genetic testing to support precision medicine,” Byung-In Lee, Ph.D., CEO of Diagnomics announced. “Our teams invested a tremendous amount of time and effort to ensure the report’s validation and viability that pertain to the individual patient. We hope that the report will encourage more patients and doctors to put more emphasis on preventive care and personalized medicine.”
“The partnership between our companies is another step to help further expand the field of pharmacogenetics and make genomics a standard clinical practice across a broad range of medications and diseases,” stated Don Rule, CEO of TSI. “The Diagnomics team has applied innovative strategies to make an expansive test panel both accessible and affordable for clinical use. We are looking forward to working together to realize the promise of this technology to improve precision health on a global basis.”
The visual, decision-ready PGx report offered by Diagnomics includes actionable items such as dosing guidance, potentially impacted medications and clinical consequences. Reports provide citations to the most recent drug labels, consortia guidelines and relevant research regarding drug safety and efficacy. The report also features a detachable card containing PGx results that the patient can conveniently carry on their person.
Diagnomics intends to work closely with TSI to develop targeted reports for pain, cancer and cardiovascular medications. These customized reports, in addition to the comprehensive version, will provide valuable insights on how patients respond to opioids, anticoagulants, statins, chemotherapies, etc., and promote patients’ curated treatment plans.
“The U.S. Food and Drug Administration reports that over two million of patients are suffering from serious adverse drug reactions yearly and the estimate of the cost of drug-related morbidity and mortality is $136 billion annually, which is more than the total cost of cardiovascular or diabetic care in the United States,” Min Seob Lee, Ph.D., chairman of Diagnomics added. “By combining the power of the whole genome microarray with TSI’s PGx knowledge base, Diagnomics’ PGx solution will benefit the whole community from patients to healthcare providers and payers.”
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 www.diagnomics.com.
About Translational Software Inc.
Translational Software enables healthcare providers to realize the promise of precision medicine. We simplify complex genetic data into evidence-based actionable recommendations to deliver genomic decision support in platform-agnostic formats. Our PGx knowledge base and Fast Healthcare Interoperability Resource (FHIR)-based API has been used to provide over one million PGx recommendations. To learn more, visit us at www.TranslationalSoftware.com.
Don’t miss out the largest human genetics meeting in the world – ASHG 2018 in San Diego!
Visit our booth #641 and pick up your invitation for our exclusive event during ASHG 2018.
Save the date for AI Genomics Beer Night!
– Genomics Meets Artificial Intelligence –
Thursday October 18
5:30 pm to 9:00 pm
Co-hosted by EDGC and ScaleMatrix, we cordially invite you to an exclusive VIP event at the Life Science Launch Center in evening of the 18th.
Come join us for an evening of networking, discussion and presentations in the field of genomics and artificial intelligence development.
Snacks and refreshments, and guest arrivals are from 5:30-6:00pm followed by an opening presentation given by Professor Sung-Hou Kim from UC Berkely.
Title- “Power and Challenges of Machine-learning in Genomic Predictions”
Guest Speaker – Professor Sung-Hou Kim from UC Berkely
[About the ASHG 2018]
ASHG 2018 is the largest human genetics meeting and exposition in the world. This year’s meeting is expected to attract over 6,500 scientific attendees, plus 250 exhibiting companies, powering all areas of innovation the field from microscopes to data storage and analytics. The meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
+1. 800. 605. 8422 / email@example.com
Diagnomics CLIA-Certified Personalized Medicine Laboratory Earns College of American Pathologists (CAP) Accreditation
SAN DIEGO, Calif., 02/13/18 – Diagnomics, a developer of innovative products and services for personalized medicine based on Next Generation Sequencing (NGS) and array technology, today announced that its personalized medicine laboratory located in San Diego, California, has received certification from The College of American Pathologists (CAP) recognizing Diagnomics for meeting the highest standards in quality, operations and patient safety. The CAP accreditation, and the Clinical Laboratory Improvement Amendment (CLIA) certification, which Diagnomics achieved in 2015, are internationally-recognized credentials awarded to laboratories complying with the most comprehensive, rigorous, and scientifically-endorsed standards of laboratory practice.
“We are proud to achieve the dual distinction of being CLIA-certified and CAP-accredited and applaud our scientific and clinical teams for their diligence and commitment to uphold the industry’s most stringent requirements in laboratory testing, record-keeping, safety and quality,” said Byung-In Lee, CEO. “Being CLIA-certified and CAP-accredited upgrades our current high-level lab standards to ones that can be used for patient testing and meets the increased requirements by consumer genomic companies and the needs of our existing clients.”
“Gaining CLIA-certification and CAP-accreditation enables Diagnomics to expand into new diagnostic markets such as NIPT, cancer screening, and clinical sample management and trial support,” explained Dr. Min Seob Lee, Chairman of the Board. “Additionally, with the field of consumer genomics advancing so quickly, these standards are critical to maintain sample integrity, confidentiality and personal records.”
About the College of American Pathologists
As the leading organization with more than 18,000 board-certified pathologists, the College of American Pathologists (CAP) serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. The CAP’s Laboratory Improvement Programs, initiated 65 years ago, currently have customers in more than 100 countries, accrediting 7,700 laboratories and providing proficiency testing to 20,000 laboratories worldwide. Find more information about the CAP at cap.org. Follow CAP on Twitter: @pathologists.
Diagnomics provides complete personal genome sequencing and bioinformatics solutions to biomedical researchers, physicians, and individuals seeking to understand the roles genes play in personal health and disease. Learn more at www.diagnomics.com
These skin care products are purported to be optimized for my skin type, as determined by my whole genome sequence (details in comments below).
I originally sent my saliva to BGI in China — to the largest sequencing lab in the world (at the time) — and they did a whole genome sequence of me with the plan to do a comparison to Geordie Rose, the founder of D-Wave Systems (the quantum computer company). This was a surprise treat, as the company offers a variety of apps now based on my genome. So, thanks to MyGenomeBox.
This is all new to me, and I’m curious to see if I can sense an effect. My main worry is that the placebo effect correlates with the price paid, and this was a freebie.
They summarize: “Healthy, hydrated, smooth skin is the universal hallmark of youth and beauty and deterioration of it is one of the first visible signs of aging. Although aging is multifaceted and complex, there are three key skin properties associated with youthful skin that become compromised as we grow older: elasticity, hydration, and antioxidant factors. Genetics account for about 60% of skin properties while environmental effects account for about 40%. Scientists discovered 13 key SNPs in our genes that are associated with these skin predispositions. In this targeted approach, it is possible to identify your skin’s natural tendencies and create a flawless personal skincare regimen that is specifically designed for you according to your DNA, your biological manual. Knowing the efficiency of your skin’s properties can help you take the guessing game out of skin work and address your skin’s issue with precision.”
Proprietary algorithms use NGS to detect multiple fetal genetic abnormalities from non-invasive samples
Dec 08, 2015, 08:00 ET from Maverix Biomics, Inc.
SAN MATEO, Calif., Dec. 8, 2015 /PRNewswire/ — Maverix Biomics, Inc., a leading genomic analysis software company, and Diagnomics, a developer of innovative products and services for personalized medicine based on Next Generation Sequencing (NGS) technology, today announced their achievement of Clinical Laboratory Improvement Amendments (CLIA) validation for NGS based Pre-natal Testing using the Maverix Dx Platform. The platform is a cloud-based Next Generation sequencing data analysis system for reference laboratories and diagnostic testing sites.
Research demonstrates that the risk of aneuploidy, which is the absence of either a chromosome from a pair (monosomy), or the presence of more than two chromosomes of a pair (trisomy), statistically increases after 35 years of maternal age. Diagnomics and the Eone-Diagnomics Genome Center (EDGC), a joint venture between Diagnomics and Eone Life Science Institute in Korea, developed the NICE® (Non-Invasive Chromosome Examination) proprietary algorithms using NGS technology to detect multiple fetal chromosomal aneuploidies from cell free DNA. “NICE®Bioinformatics” delivers the NICE® algorithms on a clinically approved cloud-computing platform, Maverix Dx, provided by Maverix Biomics. Joint efforts by Diagnomics, EDGC, and Maverix resulted in the delivery of a valuable diagnostic test that is clinically and scientifically validated on the Maverix Dx platform.
The Maverix Dx platform is designed to be part of a regulatory compliant workflow for genetic/genomic data analysis and provides quality management features that comply with CLIA and CAP regulatory needs. The Maverix Dx platform offers simple and easy NGS data analysis to produce reliable, consistent, and reproducible results. The platform is integrated with a Laboratory Information system (LIMS) for clinical and diagnostic testing.
“By achieving CLIA validation for NICE®, we are further delivering on our promise to provide genomic sequencing and bioinformatics solutions that assist healthcare professionals worldwide in better understanding the genetic influence of personal health and disease,” said President of Diagnomics and CEO of EDGC Min Seob Lee. “Our partnership with Maverix has enabled us to demonstrate the positive influence next generation sequencing has on complicated clinical diagnostics testing.”
CLIA director, Philip Cotter, Principal, ResearchDx, Inc., administered the CLIA validation process of NICE® on the Maverix Dx platform. “The design of the Maverix Dx platform enabled the execution of complex clinical molecular diagnostic testing in an efficient and simple manner. I was pleased to see that the data review, sample management and approval process easily complied with CLIA regulatory expectations.”
“The CLIA validation is an important benchmark in our ability to deliver a clinical diagnostic platform,” said Tom Kent, President of Maverix Biomics. “We are pleased to have worked with Diagnomics on enabling the NIPT test and we look forward to establishing additional partnerships that will facilitate more clinical diagnostics tests in the future.”
“The use of the Maverix Dx platform for prenatal diagnostic testing demonstrates that our technology meets the standards of the CLIA validation process and is specifically designed to be part of the genetic compliance for regulatory needs,” said Byung-in Lee, VP, Product Operations and Quality at Maverix Biomics. “We are confident in the platform’s ability to further help researchers and clinicians enhance the health of individuals and advance the state of health care.”
About the Maverix Dx Platform
The Maverix Dx Platform is a cloud-based solution designed for use by reference laboratories and diagnostic test developers. It leverages technologies developed and proven as part of the Maverix Analytic Platform, including open-source algorithms as well as supporting proprietary algorithms developed to implement specific genomic-based tests and diagnostics. After loading sequence data from instruments located at one or more geographic locations, the diagnostic analysis is performed, and merged with additional information provided from external Laboratory Information Management Systems. PDF summary reports, including clinical reports, are generated and delivered through a web-based Provider Portal for viewing and downloading. The Maverix Dx Platform is designed to be part of a regulatory compliant workflow from sample to results.
About Maverix Biomics
Based in San Mateo, CA and backed by leading venture capital firms and Silicon Valley investors, Maverix Biomics, Inc. provides researchers with a cloud-based platform to manage, analyze, and visualize genomic data, build Communities of Discovery, and place their data in context with the latest public data from the full spectrum of life, including human, plant, animal, or microbial organisms.
SOURCE Maverix Biomics, Inc.
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