New breakthrough to improve diagnosis of hereditary cancer in Catalonia

The multidisciplinary team working on the Joint Program for Hereditary Cancer at the Catalan Institute of Oncology (ICO)−Bellvitge Biomedical Research Institute (IDIBELL) and the Institute for Health Science Research Germans Trias i Pujol (IGTP) is working very hard to curb the impact of cancer in Catalonia by identifying gene mutations that increase a family or individual’s risk of developing cancer. In this context, the Joint Program for Hereditary Cancer has taken a step forward in diagnosing people genetically prone to cancer by creating and implementing a new diagnostic strategy. This new system has made genetic diagnosis more efficient, which has made it possible to identify the mutations responsible for predisposition to cancer in a higher percentage of patients. Since it was first implemented in the Catalan health system six months ago, more than 700 patients have benefited.    

The new diagnostic strategy, called I2HCP, was recently published in two articles in the journal Scientific Reports. I2HCP allows doctors to sequence all of the genes of hereditary cancer at the same time and then analyze them by groups according to clinical presentation or patients’ clinical suspicion (the series of symptoms the patient and their family have), thus making diagnosis more effective.

This new system is based on genomic tools and bioinformatics analysis developed internally by the researchers. “As it is a system developed by and for the Joint Program for Hereditary Cancer, it allows us to maintain all the information and control over the diagnosis process, while also making analysis highly flexible,” says Eduard Serra, head of the Hereditary Cancer Group at the IGTP. The flexibility of I2HCP means new genes with clinical utility can be incorporated more quickly as they are discovered, making genetic diagnosis more efficient and reaching patients faster.

One of the articles published in Scientific Reports compares the new panel’s genetic diagnosis performance to a commercial system and the study of all the genes in the genome. “The results of the study highlight the suitability of the strategy developed by the ICO-IDIBELL-IGTP Joint Program, as unlike other systems, it allows for an exhaustive sequencing of all genes associated with hereditary cancer," explains Conxi Lázaro, head of the Molecular Diagnostics Unit at ICO-IDIBELL.

Curbing the impact of cancer through genetic diagnosis: new technological challenges

Nowadays, the field of genetic diagnosis is experiencing a revolution through the application of new mass sequencing or new-generation sequencing (NGS) techniques. These breakthroughs are bringing about a paradigm shift in genetic diagnosis because while in the past it was only possible to analyze one or a few genes, now it is possible to analyze dozens or hundreds at once (called gene panels) or even all of the genes in the human genome (exome).

These new analysis capabilities allow scientists to identify genetic alterations causing greater predisposition to cancer much more efficiently, especially in individuals and families in which clinical diagnosis of this predisposition is complex.

Initiatives like the ICO-IDIBELL and IGTP Joint Program for Hereditary Cancer –funded by the Government of Catalonia, Institute of Health Carlos III and the Asociación Española Contra el Cánce− make it possible for innovation in the field of genetic diagnosis to reach patients in the Catalan healthcare system. 

Related papers:

• E.Castellanos et. al. A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape, Scientific Reports 7, Article number: 39348 (2017), doi:10.1038/srep39348
• L.Feliubadaló et. al. Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Scientific Reports 7, Article number: 37984 (2017), doi:10.1038/srep37984