Cancer Genomics

Cancer Genomics is the interpretation of genetic information from tumour cells, which helps diagnose and treat patients according to their own cancer’s genetic profile.


The discipline also helps predict long-term health outcomes, facilitating autonomy by allowing patients to make properly informed decisions about their care.

One of the main roles of a Cancer Genomics Scientist is to ‘sequence’ (read along) the parts of the genome where mutations tend to be found, looking for mistakes in the code known to cause tumours. Doing so is a specialist laboratory role, scientists must be well versed in communicating findings to medical colleagues, who need the information to be clear and concise. As well as interacting with colleagues from across the spectrum of clinical disciplines, on a day-to-day basis scientists spend their time extracting DNA and proteins from cancer cells in biopsies sent for analysis, running advanced molecular tests on the various components recovered, and most importantly, ensuring that sample records are properly maintained and refer to the correct patient. As well as diagnoses, the information about mutations is also used to guide treatment – there are drugs available that only target faulty proteins made by damaged DNA, so we can identify patients that the drugs are likely to work for (if they have that kind of mutation), and save patients from side effects of a drug that won’t work if the mutation is not found in their sample. Furthermore, certain types of mutation are associated with favourable outcomes and vice versa – being able to predict a patient’s prognosis gives the doctors treating them a good idea of how best to manage the disease – a mutation linked to a poor prognosis might warrant the use of a very powerful drug.

This is one of the most important aspects of Cancer Genomics, as it helps patients understand their treatment options and gives realistic indications about their likely effectiveness.

Last updated on 3rd February 2022