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Precision medicine: handbook for the cancer patient

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IT BEGINS with genomic profiling, hunting for the mutations that drive tumor growth. Then a multidisciplinary team of experts, the Molecular Tumor Board, interprets the data collected, and chooses, if available, the best therapy with which to act on the genetic mutations of the tumor, regardless of its location. In summary, this is the new path offered by precision medicine, an innovative approach to oncology that is revolutionizing the lives of many patients affected by metastatic cancer. Considerably widening the therapeutic options for tumors that, even a few years ago, often had very few. We met Paolo Marchetti, president of the Foundation for Precision Medicine, on the sidelines of the third Italian Summit On Precision Medicine, to ask him to explain how patients can access this new opportunity in the field of oncology, and what benefits they can draw.

Precision oncology, an opportunity to be seized immediately


Professor, what can a patient ask his oncologist to understand if his tumor can be treated with precision medicine?
“The first important distinction concerns the staging of the neoplasm: is the disease confined or, unfortunately, is it a metastatic disease? It is in the second case that precision oncology becomes a viable path. If I were a patient with metastatic disease, I would ask the oncologist who is following me if there are any conventional treatments that can guarantee me a high probability of success. For many metastatic tumors there are already molecular target drugs registered and available in the National Health Service, for which it would be completely unjustified to search for other targets. If I had the best first line of therapy and my oncologist told me that at this time the remaining treatment options available for my disease tend to be less effective, then tumor profiling becomes an important possibility. “

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Are all metastatic cancers potentially treatable with precision medicine?
“Unfortunately not. Genomic profiling is useless in the very advanced stages of the disease, because as tumors grow, they accumulate new mutations and there comes a time when the alterations become so many that turning off one or the other has no clinical reflection. Therefore, resorting to precision medicine in these patients makes no sense: we would expose them to useless waiting, useless biopsy, useless treatment, without benefits in terms of health “.

What can a patient expect from precision medicine?
“The possibility of having better responses with less toxicity. And above all, responses that are much more persistent over time. Today we have patients treated for three, four, five, six years with molecularly targeted drugs, so we have the possibility of obtaining such prolonged disease checks that they can almost translate into the most common concept of recovery. It is certainly still too early to say that these tumors can be cured, but precision medicine has already shown that it can revolutionize the path of patient care “.

Genomic profiling, Molecular Tumor Boards and precision oncology are very new concepts, and are not yet available everywhere in our country. What to do if the center where we are being treated does not offer this new possibility?

“The patient must ask his oncologist to refer him to a center where a more extensive profiling can be done to search for specific mutations. In Italy we have multidisciplinary treatment groups in all regions, which can be asked to evaluate the opportunity for profiling even if it is not available in the hospital where the patient is being followed. What I recommend to patients is not to fall into the DIY trap, wandering around on your own looking for someone to test them for the presence of possible mutations, because it is not always a viable path. And above all, never turn to people who, outside of public structures, promise paid treatments: it makes no sense to spend absurd amounts to obtain therapeutic modalities that have not been evaluated by a multidisciplinary group, essential for making decisions in this area. field”.

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So there aren’t automatic paths to access precision medicine everywhere?
“The thing that pains me a lot is that we have not yet activated the oncology networks in all regions. This is a huge damage for patients, because in the context of regional oncological networks your question would find no reason to exist: if the patient is taken care of by the network of the region it is clear that in the context of the network all professionals know where it is possible to do the profiling and to which patient it is needed. Unfortunately, the residency certificate still makes the difference, and still represents a negative prognostic factor in oncology where the networks are not active, and this also happens in large and traditionally very advanced regions “.

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Aside from choosing a personalized therapy, does genomic profiling offer other benefits for patients?
“Profiling can give very different types of information. In 15-20% of patients it can highlight the presence of alterations that do not belong only to the tumor, but are specific to the individual. Cancer cells are born as patient cells, and if they already had a mutation, they carry it with them. The fact of recognizing these mutations opens a protective umbrella on the family, because it clearly allows us to intervene with much earlier evaluations and possibly find much smaller tumors, and therefore not to force these families to further suffering. The study of the complex alterations that characterize each single tumor also makes us understand the degree of aggressiveness of the neoplasm, and therefore the multidisciplinary discussion also allows us to understand what is the possible evolution of that disease, what is the prognosis for the patient, and whether with we can modify our treatments “.

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