CORDIS

Haematological disease is responsible for approximately 9.5 % of new diagnosed cancers every year and is slightly higher in those of European ancestry. Furthermore, the incidence of acute leukaemia shows an exponential rise after the age of 40. With the continued increase in life expectancy haematological diseases are set to become a major burden on European healthcare systems in the near future. The aim of the NGS-PTL (Next generation sequencing platform for targeted personalised therapy of leukaemia) project was to demonstrate the use of genomic information for improving therapies on different forms of leukaemia. It also highlighted the importance of the translation of genomic data, essential for both personalised medicine applications and routine clinical practice. Project partners therefore developed biostatistics and bioinformatics tools for data analysis and the integration of scientific research data with clinical and molecular databases. This resulted in the evaluation of different tools for fusion genes detection and the development of a whole exome sequencing (WES) pipeline for leukaemia sample analysis and the detection of driver mutations in WES. Through a combination of innovative sequencing technologies and analytical methods researchers were able to draw a detailed picture of each patient’s genome resulting in more effective diagnosis, prognosis and treatments. The consortium also identified disease biomarkers by analysing target genes in large patient cohorts. NGS-PTL identified and fine-tuned an experimental framework that for the first time depicted a comprehensive disease ′fingerprint′ for each patient. This will help to avoid very expensive and, in some cases, useless and even harmful therapies, while new drugs will be specifically directed only to patients for whom they are safe and useful. In conclusion, NGS-PTL has successfully laid the foundations for a concrete personalised medicine approach. In addition, it has organised the European clinical and technological platform for the study, diagnosis and cure of several leukaemia subtypes.

Keywords

Leukaemia, healthcare, genomic data, biostatistics, bioinformatics, molecular database, personalised medicine, whole exome sequencing