These are laboratory tests performed on samples of the patient’s tumour, either a biopsy or the whole piece when it has been excised. Modern techniques separate and examine key genes for protein synthesis that help us to understand the disease’s real behaviour (prognosis) and even potential weaknesses that make it more sensitive to specific treatments (targeted therapy).

Genomic testing or platforms are studies that are performed on tumour specimens or tumour cell samples to check for abnormal genes.

There are several types of commercial platforms for Breast Cancer such as MammaPrint (70 genes), Oncotype (21 genes), or Prosigna (50 genes). They usually report on the actual subtype of Breast Cancer and the prognostic risk of recurrence, especially in patients when there are doubts as to whether to give chemotherapy after surgery.

Genetic testing of individuals or families is a study of normal cells of healthy people or people with the disease, usually from a blood sample, and is used to identify inherited genes that predispose to a particular type of cancer.

There are a variety of genes that are studied, but the most well known in Breast Cancer are the BRCA1 and BRCA2, genes that predispose families who have the mutation to both Breast and Ovarian Cancer.

Genomic platforms which are performed on tumour samples (biopsy or excision) provide a very reliable idea of the tumour’s genetic map, which genes have been altered, and give a clear idea of prognosis and possible treatment, in a much better way than only having conventional clinical data.

Requesting a genomic platform is especially useful when there is doubt surrounding the potential benefit of adding chemotherapy (with its toxicity and resulting deterioration in quality of life) to surgery in patients with early-stage Breast Cancer.

At our centre we have access to any of the  approved commercial genomic platforms for Breast Cancer and even broader platforms such as Foundation One and Guardant 360 for any other type of tumour, regardless of the source, as recommended by the oncologist.

As it is carried out on tumour tissue that has been sent to the laboratory for genetic analysis, following removal or biopsy (a small sample), it is not an uncomfortable test for the patient. The result is obtained in less than 2 weeks and usually provides a risk scale with an associated probability of recurrence in cases where chemotherapy would not be given.

It is used commonly in women with early-stage Breast Cancer disease, following initial surgery, with no or very few affected nodes (1-3) and clear hormone-sensitivity (hormone-positive receptors on tumour cells). In these patients, the outcome (High, Medium, or Low Risk) enables a decision to be made on whether adding chemotherapy to treatment could be of benefit, reducing the risk of disease recurrence.

It also allows labelling of the tumour into one of the five different types of Breast Cancer gene classification, each of which has a different prognosis and different therapeutic approach.