Over 17,660 tests (on average 654 per center) mainly for lung, ovarian, colon, melanoma and breast cancers. They are those carried out every year to reveal the molecular alterations and guide in the choice of the most suitable therapy for individual cancer patients. These are the tests carried out with next-generation gene sequencing techniques (Next Generation Sequencing, NGS) for the diagnosis of tumors through the National Network of high-tech laboratories activated in 2017. Unfortunately, 80% of the facilities are located at the Center /North. In relation to the number of inhabitants, however, in the South there are half of the laboratories compared to the Center / North. The data emerges from the study recently published in “Pathologica”, the international journal of SIAPEC-IAP (Italian Society of Pathological Anatomy and Diagnostic Cytopathology), and presented at the VII National Meeting of the Group of Molecular Pathology and Predictive Medicine (PMMP) of the scientific society , which takes place in virtual form from today to 10 September.
The investigation of genomic diagnostics
The survey conducted by Siapec-Iap made it possible to evaluate the level of use of genomic diagnostics in oncology throughout the territory, thanks to the analysis of numerous parameters. Thirty centers participated, seventeen located in the North, 7 in the Center and 6 in the South. The diagnostic laboratory / population ratio is 1 / 1.6 million inhabitants in the North, 1 / 1.7 million in the Center and 1/3, 4 million in the South / islands. Thirteen centers are considered highly productive (500 to 2,500 tests performed each year), 6 have an average productivity (200 to 500) and 11 are characterized by low activity or are defined in the implementation phase (less than 200 tests). Productivity is closely linked to the availability of automated procedures.
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Il Molecular Tumor Board
Furthermore, the heads of the centers were asked whether the laboratory was functionally connected to a “Molecular Tumor Board” (MTB), ie the multidisciplinary group for the management of molecular data and the treatment of patients. Two thirds of the centers are connected to a MTB, but only in 30% of cases is the latter ratified by regional decree. The professionals most frequently involved in the MTB core team are the pathologist, the oncologist, the molecular biologist, the geneticist, the pharmacologist and the bioinformatician. Specific figures with bioinformatics skills are present in only 40% of the centers. The tests mainly concerned lung, ovarian, colon, melanoma and breast cancers.
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What is NGS
Next-generation sequencing is an innovative technology increasingly used in diagnostic centers for the simultaneous evaluation of numerous molecular alterations and the selection of patients for precision oncology. “NGS diagnostics in Italy is in a phase of progressive growth, but the general situation is still heterogeneous in terms of geographical distribution, characteristics of the laboratories and diagnostic tests performed”, he explains Antonio Marchetti, full professor of pathological anatomy, director of the Molecular Oncological Diagnostics Center of the University of Chieti and coordinator of the Molecular Pathology and Predictive Medicine Study Group, through which Siapec-Iap has followed the progressive development of the Pathological Anatomy laboratories that have adopted NGS technology in cancer diagnostics.
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How to improve the dissemination on the territory
Given that the situation is very heterogeneous within the various regions, what can be done to break down the differences? “One of the priorities for the development of a functional network of laboratories in our area – replies Marchetti – is the implementation of activities that favor the harmonization, logistics and convergence of biological material in the diagnostic reference centers for molecular analyzes” . But data management by the Molecular Tumor Boards is also fundamental, in close relationship with multidisciplinary oncology groups in well-defined pathways within regional oncology networks. “In this way – continues the expert – it will be possible to ensure a consistent increase in quality, a reduction in costs for tests and high levels of diagnostic-therapeutic appropriateness”.
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The role of the pathologist
For the correct classification of oncological pathologies, the role of the pathologist is fundamental. “He is a professional whose skills range from morphology, even digitized, to the immunophenotypic characterization of tissues according to the most recent developments in technology, to in vitro molecular analysis with the sole purpose of knowing in depth the bases of the pathological processes involved in development and in the progression of tumors, indispensable today for an effective and personalized treatment ”, explains Marchetti. The possibilities of treating a neoplastic patient depend not on a single genomic alteration, as important as it may be for the purposes of treatment, but on a set of information that derives from an ‘all-round’, all-encompassing picture of the tumor. integrated diagnostics.
The Life Project
In the VII National Meeting of the PMMP the main technological and application developments in the various sectors of oncological pathologies are also analyzed, starting with the Life Project with the establishment of a corporate tissue bank on Tissue Micro Arrays (TMA) relating to more than 10,000 rare cancers, because you start at a young age or with an uncommon histology. The aim of the study is to highlight rare DNA alterations, using a new technological approach, applied for the first time in Italy in this context, to reduce the time and costs of the analyzes. “This study involved a Phase 1, in which about 10,000 rare forms of cancer were selected from several hundreds of thousands of cases from the archives of the 18 participating centers and is currently in Phase 2, corresponding to the immunophenotypic analysis – he explains. Anna Sabino, Siapec-Iap president. Phase 3, which provides for the validation of the results, is scheduled for the end of this year ”.
Identify rare mutations
The intent of the study network is to identify rare molecular mutations early and improve the living conditions and survival of patients. The greater diagnostic appropriateness is thus accompanied by the optimization of resources. “The setting up of the tissue bank on TMA, recently concluded – continues Sapino – will allow the rapid analysis of numerous biomarkers useful for the treatment of patients with molecularly targeted drugs. TMA screening will be conducted by immunophenotypic analyzes available in all pathological anatomy centers. The rare cases tested positive at screening will then be validated by molecular analyzes in diagnostic reference centers, such as those of the NGS National Network “.
Hereditary pathologies
The meeting also examines specific areas of molecular oncological diagnostics (breast, ovarian, thyroid, gastrointestinal, pancreatic-biliary, pulmonary pathology, etc.), coordinated by experts in the respective sectors. One session concerns the activities of a SIAPEC intergroup network on hereditary diseases, which was recently established and which provides for close collaboration with other companies and associations. Finally, two sessions are dedicated respectively to liquid biopsy, which represents an important application sector especially in the early diagnosis of neoplasms and in the monitoring of patients during molecular-targeted therapies, and to biomarkers for immunotherapy treatments, a new weapon in precision oncology. .
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