Precision medicine has emerged as a promising field in modern medicine. Precision medicine is often known as 4P medicine since it is personalised, preventative, predictive, and participatory. Precision oncology is a subspecialty of precision medicine that combines molecular data with traditional clinicopathological characteristics to correctly characterize prognosis and predict response to treatment in cancer patients.
Precision oncology relies on the pathology laboratory. Three types of analysis are performed in pathology laboratories to meet precision oncology aims. The first form of analysis is a diagnosis or ‘diagnostic analysis.’ A diagnostic study can assist determine the kind of tumour in a certain patient. The morphological and molecular features are considered. Certain molecular abnormalities are solely and strongly related with specific kinds of tumour. These can take the shape of significant alterations like genomic translocations or more subtle modifications like point mutations. These transactions and point mutations have long been a component of molecular diagnostics workup in pathology laboratories, particularly in cases of haematological disorders. Chronic myeloid leukaemia (CML), for example, has a distinct “bcr-abl” genetic translocation. Another new addition to the diagnostic workup that has shown good results is methylation profiling of brain tumours.
Predictive analysis is the third sort of analysis that is performed on a regular basis. Predictive analysis advises clinicians on the sort of treatment to give to patients. This might take the shape of a big scale or a small scale analysis. In the instance of lung cancer, for example, the presence of an EGFR gene mutation will direct the doctor to begin targeted therapy with tyrosine kinase inhibitors such as erlotinib or gefitinib. Detection of BRAF mutations has an equivalent function in melanomas, assisting clinicians in offering a specific therapy.
Regardless of whether the analysis is large scale (e.g., Next generation sequencing) or small scale (e.g., Sanger sequencing, Fluroscenet in-situ hybridization (FISH), or Polymerase chain reaction (PCR) based assays), the most important factor to consider is that the tests are performed in a dedicated laboratory. It is advised that the analysis be carried out in an accredited lab with both external and internal quality control mechanisms in place, and that the results be evaluated by highly qualified individuals.
The backbone of precision oncology setup is a competent laboratory analysis in an approved lab with a committed well qualified specialist.
Dr. Reena Mittal, MD, is a senior consultant haemoncopathologist and the director of the hematopathology department of SRL Diagnostics, Global Reference Lab in Mumbai.
The pathology laboratory’s function in the era of precision oncology.
