Precision medicine is revolutionising cancer treatment by enabling clinicians to tailor interventions to the unique characteristics of each patient’s disease. By utilising genomic and molecular profiling, we can use it to identify specific mutations and biomarkers, allowing for targeted therapies that are more effective and have fewer side effects than traditional treatments.
A significant advancement in precision medicine is in the area of targeted therapies, exemplified by the use of imatinib (Gleevec) in treating chronic myeloid leukaemia (CML). By specifically blocking the activity of a protein, the BCR::ABL1 fusion protein that is produced due to a genetic mutation—this targeted therapy has transformed the disease from a deadly blood cancer into a manageable chronic illness—significantly improving patient outcomes while reducing the damage to healthy cells and minimising side effects.
In addition, the success of precision medicine relies heavily on understanding inherited genetic differences present in all cells of the body. These germline variants can profoundly influence how different individuals respond to the same treatment, even with the same type of cancer.
For instance, the BIM deletion polymorphism is a germline variation known to affect resistance to targeted therapies. This polymorphism can lead to drug resistance against tyrosine kinase inhibitors, such as imatinib, by impairing cell death pathways in cancer cells. This variant is found predominantly in East Asian populations, occurring in about 12 to 15 per cent of individuals. It is, however, absent in Caucasian populations. Therefore, recognising these differences in the distribution of such germline variants is important in allowing clinicians to anticipate potential drug resistance and adjust treatment plans accordingly.
Moreover, germline variants impact drug metabolism, affecting treatment efficacy and safety. Understanding these differences through pharmacogenomics, a key component of precision medicine, helps us understand these differences, knowledge that can be used to optimise drug selection and dosing, ensuring patients receive the most effective therapy with minimal adverse effects.
In summary, precision medicine, enriched by the analysis of germline variants like the BIM deletion polymorphism, provides more personalised, effective, and less toxic cancer treatments. This innovative approach not only enhances prevention strategies but also optimises therapeutic interventions, ultimately improving patient outcomes and quality of life.