Precision medicine — targeted care based on genes

Precision medicine, sometimes termed personalised medicine, involves analysing the unique biological traits of an individual's tumour to inform diagnosis, staging, and management. By examining DNA alterations, RNA expression patterns, and specific proteins within malignant cells, oncology teams can identify distinct drivers promoting abnormal growth.

This molecular profiling enables clinicians to predict how a malignancy might behave and which interventions offer the greatest likelihood of clinical benefit. It also assists in identifying treatments that are improbable to succeed, sparing individuals unnecessary toxicities and supporting more efficient clinical decision-making.

Precision medicine fundamentally alters how care is planned. Identifying actionable alterations allows your oncology team to consider targeted drugs or immunotherapy regimens that directly address the underlying drivers of the disease. This tailored strategy often increases the chance of disease control whilst potentially reducing non-specific side effects associated with conventional cytotoxic chemotherapy.

Furthermore, molecular insights can highlight opportunities to join clinical trials evaluating novel therapies for rare mutations. Understanding your tumour's profile empowers you and your care team to make collaborative, evidence-based choices aligned with your specific biology.

This approach relies on genomic and molecular testing. Techniques include next-generation sequencing (NGS), polymerase chain reaction (PCR), and immunohistochemistry (IHC). Tests are performed on tissue biopsies or blood samples via liquid biopsies to detect mutations, gene amplifications, translocations, or markers like microsatellite instability (MSI).

Precision medicine is widely used across oncology, particularly in non-small cell lung cancer, breast cancer, colorectal cancer, and melanoma. In these conditions, genetic alterations such as EGFR mutations, HER2 overexpression, or BRAF mutations routinely dictate standard first-line therapies. It is also increasingly central in managing prostate, ovarian, and gastrointestinal stromal tumours.

Results directly guide the prescription of targeted small-molecule inhibitors, monoclonal antibodies, and immune checkpoint inhibitors. For instance, finding an ALK rearrangement leads to ALK-inhibitor therapy, whilst tumours showing high tumour mutational burden (TMB-H) may warrant treatment with specific immunotherapies.