The scientists used whole genome sequencing (AQA and OCR) to find out the patient’s entire genetic code. Blood cells can be easily taken and their DNA analysed to look for mutations.

With the genome print out, personalised medicine and treatment could follow (AQA and OCR).

Whole genome sequencing is already used to detect rare and inherited disease, as well as paediatric cancers and some specific adult cancers.

Scientists from the University of Cambridge analysed breast cell tumours taken from 2403 patients in the UK. Any genetic change that could be linked to breast cancer was found. The study revealed that there were 27% of breast cancer cases that could use this information to start a personalised treatment and for some, that they would make good candidates to join in with new clinical trials. The actual number of women that could be helped could be more than 15 000 per year.

One problem with whole genome sequencing is the vast amount of data involved (bioinformatics).

It is already possible to test for the BRCA1 and BRCA2 mutations, but testing could be far more extensive. Many of the mutations detected in the study included:

• Those that cause DNA repair issues
• Those that showed whether the cancer cells would be resistant to hormone therapy
• Brand new mutations

All these could be treated by a specific drug choice.

Breast cancer is the most common form of cancer in the UK. It is estimated that 56 000 new cases are diagnosed each year. If whole genome sequencing became a normal pathway after diagnosis, then treatments would become more personalised, precise and effective.

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