Category Archives: Transhuman News

Enabled Reduced Analysis Time Per Case, Improved Ability to Track & Query Identified Variants

BOSTON and LEUVEN, Belgium - Cartagenia, the world leader in software-based workflow support for genetic variant assessment, lab reporting, and integration of diagnostic knowledge-bases, today announced that the Human Genetics Laboratory, part of the Munroe-Meyer Institute for Genetics and Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC), has selected the Cartagenia Bench platform genetics diagnostics solution for use at its healthcare laboratory. Cartagenia Bench is a cloud-based platform that allows genetics labs and clinicians to analyze, interpret, report, and share genomic variants in routine clinical diagnostics.

Jennifer N. Sanmann, PhD, MB(ASCP)(CM)CG(CM), a representative of the Human Genetics Laboratory at UNMC, noted that its laboratory's adoption of Bench has helped them track their lab findings in a single, well-annotated database and has led to significantly reduced report turnaround times.

"Our laboratory's experience with Cartagenia has been a very positive one," Dr. Sanmann said. "The transition from our internally developed system to Bench CNV and Bench NGS went smoothly and was well supported by the Cartagenia team. It has been our experience that the Bench modules have reduced significantly the amount of analysis time per case and have improved our ability to track and query identified variants."

"The boundary between molecular genetics and cytogenetics testing is fading. NGS technology is being adopted to determine structural events; public registries such as ClinVar collect both CNVs and SNPs; and most importantly, structural variation and molecular variation are more and more often used to jointly explain the patient phenotype, and reach a diagnosis," says Steven Van Vooren, Product Marketing Director at Cartagenia. "At Cartagenia, we strongly believe in a 'single platform' approach, where joint clinical interpretation of structural and molecular events comes natural, and is agnostic of the technology used to pick up variants."

The Cartagenia Bench platform is a clinical-grade, medical device software platform that supports the assesment and reporting of structural variants such as copy number gains, losses, and changes in zygosity, as well as molecular events such as single nucleotide events, and small insertions and deletions.

"We see strong growth in labs adopting both our NGS and CNV modules on the Bench platform, and bringing together structural and molecular variants in their interpretation and reporting," says Herman Verrelst, CEO of Cartagenia. "At Cartagenia, we want to facilitate this evolution, allowing labs to automate their workflow as much as possible and use the time won to focus on the clinical setting in which to assess and report variants - whether postnatal, prenatal or in oncology."

About UNMC

UNMC's Human Genetics Laboratory is a CAP and CLIA accredited full service cytogenetic and molecular genetic laboratory combining comprehensive genetic testing with personalized clinical consultation to provide the very best in genetic medicine to every client and patient served. As genetic disease continues to become more widely identifiable, customized technology and new assays are developed and validated, meeting expanding clinician and patient needs through advancements in systems, software, and diagnoses. In addition to diagnostic and research studies in the areas of perinatal, postnatal, and oncology testing, comprehensive services at UNMC include clinical evaluation by licensed genetic counselors and board certified medical geneticists. Visit unmc.edu/geneticslab to learn more.

About Cartagenia

Link:
University of Nebraska Medical Center Selects Cartagenia Bench Platform for NGS and Array ...

PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Kathy Beal kbeal@acmg.net 301-238-4582 American College of Medical Genetics

Jun Shen, PhD was honored as the 2014 recipient of the ACMG Foundation/Signature Genomics from PerkinElmer, Inc. Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2014 Annual Clinical Genetics Meeting in Nashville, TN.

Dr. Shen was selected to receive the award for her platform presentation, "Clinical Validation of a Novel Combinatorial Algorithm that Predicts Pathogenicity of Human Missense Variants with High Accuracy."

Dr. Shen completed her PhD in Neurobiology at Harvard University, and completed her Postdoctoral Fellowship in Neurobiology with a focus on the inner ear at Howard Hughes Medical Institution/Harvard Medical School. Dr. Shen received her Bachelor of Arts in Biochemistry, Molecular Biology and Computer Science at Dartmouth College. She is currently an Instructor in Pathology at Brigham and Women's Hospital and Harvard Medical School and an Assistant Laboratory Director, Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine.

The ACMG Foundation/Signature Genomics Travel Award is given to an ACMG Trainee member whose abstract submission was chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting. The ACMG Program Committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, Signature Genomics covers the travel costs for the recipient to the ACMG meeting.

"The Foundation for Genetic and Genomic Medicine is grateful to Signature Genomics for its continued generous support of the development of medical genetic researchers through this Travel Award," said Bruce R. Korf, MD, PhD FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine.

"Signature Genomics is pleased to support the recognition of young researchers like Dr. Shen who are working in the field of genetics and genomics. This presentation is just one of the many outstanding presentations at the 2014 ACMG Annual Meeting," said Beth Torchia, PhD, FACMG, Technical Laboratory Director at Signature Genomics from PerkenElmer, Inc.

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2014 ACMG Foundation/Signature Genomic Labs, PerkinElmer Inc. Travel Award winner