Full CFTR Analysis in Single Clinical Grade NGS Experiment

enniob

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Data Driven Medicine is leading us to personalized medicine. Advances in Next Generation Sequencing (NGS) and High Performance Computing (HPC) are enabling P4 medicine: personalized, predictive, preventive and participatory. This new era of medicine ensures every patient is well diagnosed and therapies are targeted. The first step of this journey is Clinical Genomics, putting accurate algorithms in use in labs and hospitals.

Sophia Genetics, a leader in NGS, today launches a unique CFTR IVD Solution allowing clinicians to run full cystic fibrosis analysis in a single NGS experiment. Until now, it has not been possible to simultaneously analyse all relevant CFTR variants in a one-step NGS experiment.

What does this mean for CF patients? In the near future, it means a more personalized approach to medicine. It means fast, accurate access to your genetic make-up, which means knowing the exact sequence of a CFTR gene. This has implications for better, personalized treatments. Think of drugs targeted specific mutations like kalydeco. Think of the more then 2000 mutations that can lead to Cystic Fibrosis. Most of these mutations give slightly different phenotypes (symptoms/manifestations). What if a doctor could target therapies to people genetic markup and become much more efficient and precise when prescribing a particular treatment regimen. It will have huge implications on the outcome of those patients.

Source: http://www.prnewswire.co.uk/news-re...-clinical-grade-ngs-experiment-277704041.html

- Chris
 
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