Developments in fusion detection by NGS for routine clinical cancer diagnostics


There have been great advances in the analysis of actionable mutations for patient care, often going hand in hand with the development and commercialization of targeted therapies in cancer. What were once technologies and equipment available for research or only for the large reference centers in advanced economies, such as next generation sequencing (NGS), are more and more being used for routine clinical use. Though the use of targeted NGS panels is in some instances supplanting qPCR and Sanger/pyrosequencing, the use of DNA-based NGS cannot address all genomic alterations such as fusions and translocations. For instance, gene fusions that are expressed at low levels, or result in transcriptional silencing of a gene, can be extremely difficult to detect by current methodology. Developing more optimal companion and complementary diagnostics for these non-point mutation dysregulations is becoming increasingly important as more and more drugs targeting fusions and translocations in cancer such as those in NTRK, FLT3-ITD, RET and ALK, are coming to market. Additionally, as NGS enables for testing a larger number of genes giving the clinician a better overview and guidance for treatment, it is important to ensure that NGS can deliver on the detection of fusions and translocations as tests move away from IHC, FISH and others.

On the back of our recent successful, well attended workshops for Emerging Biomarkers in Immunotherapy during ESMO 2018, Munich and NGS Panels in Management of Myeloid-related Diseases during EHA 2019, IPBA will lead a workshop at ESMO 2019, Barcelona, to address recent developments such as RNA-based, hybrid-captured based NGS to detect otherwise difficult fusions for diagnostics in oncology care with leading pathologists and oncologists from Europe and shed light on how to deliver better quality for routine NGS-based testing. Eventually, this workshop will serve as a round table to further discuss and accompany national and international initiatives to identify clinical implications of missed fusion calls and improve patient care alongside Precision Medicine.

Watch this space for more details in the upcoming months! And do not hesitate to connect with us if you’d like to learn more about the workshop and IPBA services.

Camille Garnier

Inflection Point Biomedical Advisors