Throughout my professional career, even from my early days as a molecular biologist, I have always been strongly convinced that a deeper understanding of the molecular basis of disease would allow the development not only of new therapeutic tools, but also of better patient stratification. It has been in recent years, especially since the publication of the Human Genome Project and the development of new, more accessible and cost-effective genetic analysis techniques, that has allowed the advent of personalised medicine in our practices.
And I ask myself: if we have come this far, what is still to come? The new development of knowledge in Big Data, Machine Learning and Artificial Intelligence, once again opens up a convulsive and exciting scenario. The human brain has a limited capacity for computation and understanding data. As technology advances, we study the disease from different points of view: clinical, genetic, biochemical, anatomical-pathological, radiological... The integration of all these data into a single computational element may in the very near future shed light on new biomarkers with a predictive or prognostic power never seen before.
It is in this scenario that the DIPCAN Project has seeded its development. Although we are in the recruitment phase, precision medicine has already become a reality for many of its participants. This is the case of Carlos (not his real name), a 58-year-old patient diagnosed with stage IV urothelial carcinoma of the bladder with multiple disseminated involvement. Carlos was treated by his oncologists at his referral centre, receiving several lines of treatment: a doublet of platinum-based chemotherapy (Carboplatin-Gemcitabine), together with immunotherapy maintenance (Avelumab), then Enfortumab-vedotin. At this point, his oncologist, and the same patient who had seen the DIPCAN information, decided to participate in our project. Their participation would allow us to obtain genetic information from a panel of 539 genes, including mutational status, fusion study, mutational load determination (TMB) and genomic instability status. Carlos came for consultation and was informed that a clinically significant variant in the HER2 gene had been described. In this case, he had an activating mutation of the gene and significant amplification.
Given the recent data on the use of Trastuzumab-deruxtecan in this type of patient, his oncologist of reference, together with the team of oncologists at DIPCAN, sought access to this therapeutic alternative for the patient. Carlos was able to start treatment and currently shows a very significant clinical and radiological response to his disease.
Stories like Carlos' are the ones that fuel the spirit of DIPCAN every day and that, without a doubt, in the near future, will be a reality for all oncology patients. The future of oncology is not far away, but rather just around the corner.
Dr. Alberto Orta, researcher on the Dipcan Project at the MD Anderson Cancer Center Spain Foundation and head of brain tumours and Neuro-Oncology at MD Anderson Cancer Center Madrid - Hospiten.