28 May 2013
ByAppeared in BioNews 706
The three-year programme will initially test those with breast and ovarian cancer in the Royal Marsden Hospital, UK. If patients are found to have mutations in genes linked to cancer predisposition, they may require more comprehensive treatment and frequent monitoring, and their relatives could also require genetic screening.
'It is very important to know if a mutation in a person's genetic blueprint has caused their cancer', said Professor Nazneen Rahman, lead investigator of the programme. 'Such people are often at risk of getting another cancer and may choose to have more comprehensive surgery, may need different medicines, or extra monitoring'.
'It also improves the information available for relatives about their own cancer risks. Sometimes a relative is found to also have an increased risk of cancer and screening or preventative measures can be employed. Just as frequently, testing provides the reassuring news that a relative is not at increased risk of cancer and does not need interventions'.
A single blood test will be used to examine 'cancer predisposition genes': 94 genes and 284 single nucleotide polymorphisms (SNPs) which are strongly linked to an increased risk of various cancers if mutated. The genes and SNPs included in the test will be constantly updated as new research accumulates.
One of the genes analysed by the test is BRCA1, mutations in which recently led actress Angelina Jolie to undergo a preventative double mastectomy, thus reducing her risk of breast cancer from 87 percent to less than five percent. However, in her article in the New York Times, she acknowledges that in the US, the cost of a genetic test for BRCA1/2 mutations is an obstacle for many. In the UK, genetic testing for cancer patients is requested only if doctors suspect that a patient has an inherited form of cancer.
The £2.7 million pilot study is part of the Mainstreaming Cancer Genetics project, and is a collaboration between the Institute of Cancer Research, the Wellcome Trust, and genetic sequencing company Illumina, who manufacture the blood test. They are aiming to develop the infrastructure needed to make the genetic test routinely available to all patients with cancer.
Professor Ted Bianco, acting director of the Wellcome Trust, said: 'There is much expectation about the promise of new technologies in genetics contributing to a sea-change in medicine and this programme is a significant step on the road to making that a reality'.