Genomics will be the future of oncology and in some cancers it is already the present. Today, the latest generation sequencing of the tumor genome makes it possible to study many genes linked to the disease and to obtain useful information on prognosis and for therapies. And the advantage is not small: there are many patients who could benefit from the latest generation sequencing techniques. According to a study by the University of Michigan, in fact, up to 80% of people affected by cancer could have one or more mutations, and up to 60% could experience medium or high benefits from targeted therapies, based on the latest genetic sequencing. generation. The results are published in Jama Oncology.
Why is it important to study the genes of a tumor?
Sequencing the genome of a neoplasm makes it possible to better understand the characteristics of the disease and to identify elements – genetic alterations – that provide useful data to the oncologist. Diseased cells can develop, and often happens, alterations (mutations), absent in the other cells of the body, which today in several cases are easily recognizable through the latest generation tests. By identifying these mutations, a sort of signature of the disease is obtained, which may present some characteristics rather than others, which in this way provides us with information on its severity, therefore on the prognosis, and on the therapies to which it could respond better. Indeed, there are already some drugs that specifically target these alterations, while on other cells in the absence of the mutations they do not have these effects.
The new NGS tests
Precision and personalized medicine are increasingly gaining ground in various areas of care, particularly in oncology. Today under the lens of researchers are the innovative NGS tests (Next Generation Sequencing) technological platforms that allow to sequence several tumor tissue genes at the same time instead of one at a time, as happens with previous technologies – which still remain very valid. In the study, the scientists investigate these new tools and their impact in terms of benefits in therapies. The research involved more than 1000 patients with advanced solid tumors (those that do not involve blood cells).
The impact of the genome
The results indicate that the use of genomics is already useful and important for the majority of patients: in fact, as many as 817 participants, about 80% of the sample, had genomic alterations that could be attacked with the drugs we have. Of these, 132 patients actually received specific therapies based on the outcome of the sequencing. Within this subgroup 49 people – almost 40% – showed a clinical benefit and 26 patients (almost 20%) an exceptional response. In all, about 60% of the participants treated with these therapies benefited. “The high percentage of PGV variants [alterazioni genetiche ndr] detected within various types of cancer supports the recommendation of a direct germline test on all patients with advanced tumors “, the study reads, indicating that this result” supports the use of an overall NGS profiling as an element that falls within the standard of care for these diseases “.
This approach could be important also and above all for those patients with a rare neoplasm, whose treatment can be more complicated, and with a tumor of unknown origin, or rather whose primary site is not known, from which its spread started. : to explain it are the specialists of the University of Texas MD Anderson Cancer Center in an editorial commenting on the publication, also on Jama Oncology. The first author of the work, Erin Cobain, also stresses that the cost of the tests is low, when compared to standard interventions and treatments, which are often more expensive, and it is one-off. The higher initial expenditure would then be amortized considering the greater benefits for many patients, in terms of both quality of life and healthier survival, with savings also for the health system as a whole.
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