2017 November 3

Researchers from the IJC Contribute to the New Guide for Use of NGS in Clincal Practice

Researchers from the Josep Carreras Leukaemia Research (IJC) Institute play an important part in all areas covered in the new guide

The Spanish Group for Myelodysplasic Syndromes (GESMD) has edited the first guide of this type in Spain and Europe

Researchers from the Josep Carreras Leukaemia Research (IJC) Institute have played an important part in all areas covered in the new guide.  Dr Francesc Solé, leader of the Myelodysplastic Syndromes (MDS)Group, has edited and coordinated the publication, while other members of the group have been actively involved in writing it, namely: Laura Palomo, Pamela Acha and Francisco Fuster.

Myelodysplastic syndromes are by their nature very diverse with different patients showing many different alterations from mutations in genes to changes in the material associated with them and their regulation. 

The use of Next Generation Sequencing Technologies (NGS) has permitted researchers to examine both the genetic and associated materials and identify a large number of previously unknown causes of the disease.

This type of analysis involves the use of complex technology and sophisticated analysis to interpret the results.   Thanks to the Spanish Group for Myelodysplasic Syndromes (GESMD) there is now a guide for clinicians wanting to use these techniques to diagnose patients.  The guide includes information on the different known types of alteration, setting up and using the equipment, analysing and interpreting the results and guidelines on a standard format for reporting the results.

For good clinical practice it is essential that different hospitals carry out this type of diagnostics in a uniform way to provide the same high standards for all patients.  A main aim of the IJC is for the results of scientific research to be used to directly benefit patients.  This guide for the use of technologies for diagnostics is an important step on the way to them becoming standard practice.