Diagnostic innovation and personalised therapeutic opportunities for cancer patients


Roberto Scalamogna

Roche Foundation Medicine


“Precision medicine” is an innovative approach to diagnosis and treatment that consolidates clinical and pathological criteria with very refined molecular analyses, creating disease models and diagnostic, prognostic and treatment strategies that are adapted to the individual characteristics of each patient. The main aim is not just to improve clinical outcomes but also to minimise any side effects for patients by using initial predictive analyses to forecast the potential efficacy of the treatment identified.

Significant advances in molecular biology, genomics and related technologies – such as next generation sequencing (NGS) – have greatly increased our understanding of the molecular mechanisms responsible for cancers and the emerging field of molecular information and genomic analysis will play an increasingly important role for precision oncology.

Foundation Medicine founded in 2010 and acquired in 2015 by ROCHE, is a molecular information company dedicated to a transformation in cancer care in which treatment is informed by a deep understanding of the genomic changes that contribute to each patient’s unique cancer. Different from a pharmaceutical or a diagnostic product, Foundation Medicine offers the opportunity to characterize cancer by its molecular makeup rather than by its site of origin.

FoundationOne® is a service that uses comprehensive genomic profiling with NGS for high accuracy identification of all four classes of genomic alteration typical of cancer (covering a large number of genes known to be responsible for the development of solid tumours). The test simultaneously sequences the coding region of 315 cancer-related genes plus the introns of 28 genes that are often rearranged or altered in tumours and sends a certified CLIA, CAP and CE-IVD report containing information on therapies available for the specific indication, drugs that are available and potentially effective but not approved for the patient’s disease, and drugs in clinical trials, thus offering crucial support in the treatment decision process.