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New Products: Eastern Biotech's Trigene; UK NHS's Cancer Test; COSMIC


Eastern Biotech in Dubai is now offering BGI Health's non-invasive sequencing-based prenatal test for Down syndrome under the name Trigene. The test, which BGI calls NIFTY for noninvasive fetal trisomy, is based on a shotgun sequencing strategy.

The UK's National Health Service has launched a 46-gene cancer panel developed by the University of Oxford and Oxford University Hospitals NHS Trust. Currently, the test is being run out of the Oxford Biomedical Research Center's Molecular Diagnostics Center, but will eventually be offered broadly within the NHS. The £300 ($453) test is based on Life Technologies' Ion AmpliSeq Cancer panel and runs on the Ion Torrent PGM. It was developed under the UK's Stratified Medicine Program, through a tumor profiling initiative funded by the Technology Strategy Board. The test was initially made available at the beginning of the year through the University of Oxford (CSN 1/2/2013).

The Wellcome Trust Sanger Institute has released version 64 of COSMIC, the Catalog of Somatic Mutations in Cancer. The latest release includes the full curation of gene fusions CIC-DUX4 and ACTB-GLI1 in solid tumors. It has also added 12 whole-genome sequencing publications, bringing the total number of whole-genome sequencing samples to 5,023.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.