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Clinical Genetics News Round-Up

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7 Jan 2016
Sonia Nicholas
Managing Editor and Clinical Lead

Editorial article

A round-up of the latest industry and product news from the clinical genetics community

The most recent news from the clinical genetics community includes genetic engineering of white blood cells in the fight against cancer, a new collaboration to tackle age related diseases and advances in clinical next generation sequencing.

1. Scientists Genetically Engineer Patients’ Own Cells to Attack Cancer

In a pioneering trial taking place in London, doctors are harnessing patients own immune systems in an effort to find a new effective treatment for resistant head and neck cancer. The trial of the novel therapy, which involves genetically engineering the patient’s white blood cells so that they recognize and attack the tumor, is taking place at the National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Guy’s and St Thomas’ and King’s College London.

2. Affymetrix and XRGenomics LTD to Collaborate on Development of Diagnostic Tests for Age-related Diseases

Affymetrix, Inc. and XRGenomics LTD, a UK-based biotechnology company, have announced that they will collaborate on research and development of a new generation of diagnostic tests for age-related diseases. Over 50 percent of healthcare costs are spent on those aged 65 and older and according to the G8 Summit 2013, age-related diseases could bankrupt Western medicine by 2050. New solutions are required to deliver efficient and effective care.

3. Singapore General Hospital and Thermo Fisher Scientific Collaborate to Identify the Prevalence of Asian-Specific Genetic Mutations in Cancer

Singapore General Hospital (SGH) and Thermo Fisher Scientific have announced the establishment of a collaborative partnership aimed at identifying cancer genetic mutations linked with Asian populations using Thermo Fisher’s Ion Torrent next-generation sequencing (NGS) platform.

4. QIAGEN Introduces GeneReader NGS System

QIAGEN has announced the start of commercialization activities for its GeneReader NGS System, the first complete Sample to Insight next-generation sequencing (NGS) solution designed for any laboratory to deliver actionable results.

5. Video: Using OneSeq to Advance the Diagnosis of Genomic Disorders

In this video, Professor Orsetta Zuffardi, Ph.D., Department of Molecular Medicine, University of Pavia, describes her laboratory’s work in postnatal and prenatal diagnostics and research into genomic rearrangements. Hear how she hopes to use OneSeq technology from Agilent as an alternative to array-CGH in the diagnosis of genomics disorders through the identification of copy number variants and genetic mutations.

6. Video: New Philisa® Real-Time PCR System from Streck Enables 20 Minute Real-Time PCR

Streck’s Philisa® Real-Time PCR System, is due to be launched in 2016 and offers real-time optics in a modular format. Watch this video to learn more about how the system can perform a 20-minute rapid reverse transcriptase PCR assay, and about the company’s plans to develop PCR based real-time kits for the detection of genes associated with antibiotic resistance.

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HematologyIn Haematology / Hematology, complete blood cell counts (or full blood counts) are obtained using automated blood count analyzers to enumerate blood cell types.  Hematology also encompasses haemostasis and coagulation, thrombophilia and hemophilia, plasma viscosity and ESR analysis, hemoglobinopathies, cell morphology and haematinic measurement.ImmunologyImmunological techniques measure and characterize immune responses. Immunology kits and analysis systems often use techniques such as ELISA, radioimmunoassay (RIA) and immunodiffusion assays, Immunohistochemistry, and flow cytometry. Immunologists use equipment such as flow Cytometers, plate readers, plate washers and fluorescent microscopes.Cell-Based AssaysCell-based assays are used to monitor the presence, quantity and activities of a desired cellular analyte including drug molecules or biomarkers. This can reveal information on cell health (apoptosis, cytotoxicity, viability and proliferation assays), cell metabolism, cell migration and cell signaling mechanisms. Find the best cell-based assay products, kits and equipment with our peer reviewed product directory: compare products, check customer reviews and receiving pricing direct from manufacturers.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Cancer DiagnosticsThere are a wide variety of diagnostic tests for cancer available, and this range continues to expand as our knowledge of cancer improves. Current diagnostic methods include biopsy, imaging and blood tests for known biomarkers. New methods in research development include liquid biopsies and cancer breathalyzers.Clinical NGSNext Generation Sequencing (NGS) refers to the use of massive parallel sequencing of multiple small fragments of DNA. This high-throughput genomic analysis yields enormous amounts of sequence data, which if appropriately analyzed could have huge potential for clinical laboratories. For this to happen there are technique and bioinformatic hurdles to be overcome.Molecular DiagnosticsMolecular diagnostics use an individual’s genetic code and gene expression to diagnose and monitor diseases. The technique is used increasingly in the field of infectious diseases and oncology, as well as areas such as coagulation, HLA typing and pharmacogenomics. Molecular diagnostics plays a pivotal role in personalized medicine.

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