Next-generation sequencing (NGS) and liquid biopsy are new technologies that can allow overall tumor profiling in a single analysis and play an important role in the implementation of precision oncology. However, the lack of guidelines in this setting has limited the development of precision oncology in Italy. This article summarizes recommendations for the appropriate use of NGS in tumor gene profiling, as well as access to tests and target drugs, that were prepared by a group of key opinion leaders and relevant stakeholders. In particular, the need to create laboratory networks capable of carrying out NGS tests in Italy is highlighted. It also appears necessary to establish an adequate reimbursement system for NGS tests. However, the expert panel recommends that the use of NGS tests in clinical practice should be limited to specific tumor types, based on the number and complexity of biomarkers and the availability of treatments.
Keywords: Italian recommendations; cancer; comprehensive genomic profiling; liquid biopsy; molecular biology center molecular tests; multigene tests; next-generation sequencing; precision oncology; target therapies; tumor gene profiling.
Lay abstract The increasingly precise and extensive characterization of tumors through gene profiling allows a greater understanding of the molecular mechanisms underlying tumor growth, thus permitting better, more personalized therapeutic options. In the past two decades, tests to individually profile genes (molecular alterations) of different tumors – including lung, stomach, colorectal, breast, ovarian cancer and melanoma – into clinical practice have been introduced, allowing patients who carry specific genomic alterations greater access to more effective therapies. The first phase of the era of genomic profiling was limited to the identification of molecular alterations, each detectable with a specific test, aiming to define the sensitivity/resistance to a single drug and for a specific cancer site. The second phase of precision medicine determined several molecular alterations tested for single cancer types, often with different techniques. We have now reached a third phase, characterized by important technological developments and, in particular, by the introduction of next-generation sequencing (NGS) and liquid biopsy (using patients' blood). These techniques allow a comprehensive genomic profile of the tumor in a single analysis using the same biological sample. These new techniques have led to the selection of increasingly precise patient candidates for target therapy and then to the monitoring of their treatment, together with identification of resistant tumor clones. However, the lack of guidelines in this setting has limited the development of precision medicine in Italy. This article reports a summary of recommendations for appropriate indications in tumor gene profiling, as well as for access to tests and target drugs, that were prepared by a group of key opinion leaders and relevant stakeholders.