Rapid advances in genome sequencing technologies have enabled a fundamental new approach – known as precision or personalised medicine – to treating disease such as cancer. Identifying the genetic changes that have led to cancer in an individual patient enables clinicians to develop highly targeted treatment programmes. This improves the efficacy of treatment and ensures that the drug toxicity load for each patient can be kept to a minimum, improving overall outcomes during and after therapy.
Targeted analysis – often using polymerase chain reaction (PCR) methodology – focuses on looking for key mutations that have been associated with each cancer type. For example, variants in EGFR or KRAS are often found in lung cancer patients, while the BRAF (V600E) mutation is linked to several types of cancer, including colon and lung adenocarcinoma, papillary thyroid carcinoma and melanoma.