Using genetic sequencing to improve diagnosis and personalize cancer treatment
Targeted therapy, often known as precision medicine or personalized medicine, is characterized by targeting specific changes or substances present in cancer cells. This is exactly what the technology of mass sequencing of oncogenic genomic changes in solid tumors does, allowing for more accurate diagnosis of the tumor and therefore the opportunity to offer a more personalized therapeutic approach and is available at the University Hospital of Lozano Blaes de. Zaragoza from October 2023.
What’s remarkable about these drugs is that they are designed to target specific targets, which can vary even among people with the same type of cancer.
The development of these treatments has gone hand in hand with advances in genome sequencing, especially the introduction of next-generation sequencing (NGS) techniques. These technologies enable comprehensive analysis of tumor DNA, identifying specific genetic variants that may have therapeutic implications.
Implementation of this technique in a teaching hospital required interdisciplinary collaboration between pathology services, the genetics laboratory and several clinical services such as medical oncology, pulmonology and thoracic surgery, as well as the hospital pharmacy service. Since its inception in October 2023, approximately 120 samples from cancer patients have been analyzed and molecular alterations of prognostic and/or therapeutic significance have been identified in approximately one third. In addition, NGS for the diagnosis of cancer is available in this center to any patient in the Autonomous Community of Aragon, after the appropriate indication from the doctor.
After a biopsy or surgery, tumors are examined to look for these molecular changes. “Before the advent of NGS, different molecular changes had to be analyzed separately, and sufficient samples were not always available. NGS methods facilitate diagnosis by analyzing several genes and molecular changes simultaneously, and the period for obtaining results is from five to six days,” explains Maria José Cardiel, head of the department of gynecological, breast and pulmonary pathology of the Anatomical Service, pathologist at the Clinical Hospital.
For his part, Sebastian Menao, head of the genetics department of the Biochemistry Service, agrees that “in the era of personalized medicine, the implementation of these methods requires extensive and specific knowledge in the field of tumor biology, as part of the “important part of success” When carrying out these methods, it is necessary to carry out an adequate interpretation of the results.” In the clinical genetics section, “we have a lot of experience in this area, as NGS has long been used in other contexts, such as diagnosing hereditary cancers, and also within a year in studying the clinical exome to diagnose complex diseases.” “adds Dr. Menao.
Today, approximately 5% to 10% of diagnosed cancers are considered hereditary. “The introduction of gene panels for the diagnosis of hereditary cancer by the Department of Genetics in 2016 was an important step in providing preventive measures and early diagnosis to a large number of patients and their families,” he notes in this release. Article, according to the head of the department of breast cancer and hereditary cancer of the Medical Oncology Service, Raquel Andres.
To summarize, Dr. Isla emphasizes the importance of an interdisciplinary approach throughout the entire process, which consists of several stages: clinical assessment of each case, obtaining the sample, performing NGS, interpreting the results and their application in practice. (MTK). According to Dolores Isla, the CTM, which meets periodically, “is a specific operational functional organization that allows to support, from an interdisciplinary point of view, the analysis of molecular findings of the tumor and specific patient characteristics for therapeutic and management decisions.” y monitoring the development of the disease.