The future of diagnostic genetics testing: it's in our genes
Today is the official Jeans for Genes Day, at Viapath we are encouraging our employees to get behind this initiative and wear their denim to work in exchange for a charitable donation. Jeans for Genes Day is an annual event aimed at raising awareness of genetic disorders and the huge challenges that individuals and families face living with these conditions. Further to this, the day raises much needed funds for Genetic Disorders UK, a charity working to improve the lives of the individuals and families living with tough disorders.
If you would like to contribute to this worthwhile cause, we have a Just Giving page with all donations going to Genetic Disorders UK, please feel free to donate to our Just Giving site which is linked at the bottom of the page.
On the theme of genetics, at Viapath we have a leading Genetics Department with an international reputation for applying innovative technologies to advance patient care. We recently published a story on the pioneering 100,000 Genomes project, to which Viapath are contributing. The full story can be read by clicking the link at the bottom of the page.
The 100,000 Genome project links to the wider theme of Next Generation Sequencing (NGS), which is widely believed to be the future of diagnostic genetics testing. Currently, establishing a definitive diagnosis for a patient presenting with a complex condition often requires prolonged and expensive clinical, genetic and invasive tests applied in series.
In molecular genetics laboratories, the current gold standard for mutation detection is fluorescent Sanger sequencing. However, owing to its relatively high cost, low speed and lack of automated base calling, it is not ideal for mutation analysis of large genes or for high throughput.
The advent of Next Generation Sequencing technology has already facilitated the discovery of many new disease-associated genes and is now poised to transform clinical diagnosis and treatment by integrating genomic technology with a breadth of clinical services, academia, and diagnostic laboratories.
The Viapath Genetics department was one of the first laboratories in the UK to embrace this technology and has already introduced a number of NGS assays into diagnostic service. The laboratory has offered the following NGS tests for over twelve months and 100% of samples have been reported within the indicated reporting time of 80 days since August 2013:
- Congenital Myopathy Disorders (CM)
- Glycogen Storage Disease (GSD)
- Nucleotide Excision Repair Disease (NERD)
- Methylmalonic Acidemia
- Urea Cycle Defects
The Viapath Genetics laboratories are committed to a development programme to continuously improve our NGS capabilities. Throughout the remainder of 2014 and through 2015 we intend to launch several new ground-breaking NGS tests.
