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Cancer, what is molecular diagnosis and what is it for

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Cancer, what is molecular diagnosis and what is it for

Precision therapy. It is a key word in the challenge to cancer, both to ensure that each person receives the right treatment for his disease and that the undesirable effects of therapy can be minimized, and to avoid unnecessary expenses by administering drugs that are not needed for a particular patient.

Except that to reach this goal it is necessary to know the invisible identity card of the tumor cells and therefore it is necessary molecular diagnosis, with the NGS or Next-Generation Sequencing technique. So you can get to “tailor-made” care in any case, when of course it is possible. This was recalled by the Italian College of Primary Medical Oncologists in Hospital (CIPOMO) which is requesting the inclusion in the LEA (Essential Levels of Assistance) of extended molecular profiling for tumors for which it is currently recommended by the European guidelines and for those that will be added in future.

How can treatments change?

Precision oncology is one of the most important cultural and organizational innovations in the oncology field in recent years. Through the molecular-genetic characterization and the detailed information obtainable from the study with molecular sequencing of the neoplasm, it is possible to select the most appropriate therapy for each individual patient.

The therapy set and driven by molecular alterations in fact, it allows to choose a personalized treatment with innovative drugs based on predictive biomarkers of response that allow to increase the probability of benefit from a specific molecule, to avoid the risk of toxicity to patients with little possibility of benefit and to control the costs of oncological pharmaceutical expenditure.

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Furthermore, extended sequencing also allows for the identification of germline mutations that predispose to the development of hereditary tumors; so it is possible to go “beyond” the single patient and monitor the other subjects at risk of the same family. Added to this is the fact that with NGS it is possible to study up to 300 genetic mutations in a single analysis starting from tumor tissue samples or even from patients’ blood.

For all these reasons, the “shift” towards precision oncology is now necessary; ESMO recommends NGS be performed in all cases of advanced non-small cell lung (NSCLC), ovarian, prostate and biliary tract (cholangiocarcinoma) cancers.

Overall, every year in Italy more than 87 thousand new cases of these tumors alone (AIOM AIRTUM 2021 Report), mostly already at an advanced stage (with the exception of prostate cancer). Newly diagnosed cases must be added to those diagnosed at an early stage and progressed to an advanced stage. Finally, there are rare tumors, often orphans of effective therapy, in which any target mutations highlighted by NGS represent the only possibility of cure.

How to manage information

However, from the experts comes another recommendation. In everyday medical activity, given the extreme complexity of managing the mutational model, a clinical governance tool represented by Molecular Tumor Board (MTB) in which the different skills for taking charge of the patient, the choice and evaluation of molecular tests and considerations of a therapeutic nature are integrated: “MTB – explains Luigi Cavanna, President of CIPOMO and President of the Congress – includes oncologists, molecular biologists, pathologists , pharmacologists and various other professionals.

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In addition to other functions, the MTB is also responsible for intervening in the governance of clinical processes that lead to the choice of carrying out or not particularly sophisticated genetic profiling tests and the choice of drugs suitable for each patient, also considering the economic sustainability of the therapy. Targeted therapies can help save resources on the part of the NHS considering that the effects of drugs on the population that really need them will be maximized (concept of therapeutic appropriateness) “.

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