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
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.
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.
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