Date Published:
26 September 2008 |
Low-cost test for hereditary breast cancer could soon be available
Scientists are working on a genetic test that would quickly and cheaply identify
women at high risk of an inherited form of breast cancer.
Women who inherit a faulty copy of the BRCA1 or BRCA2 genes face an elevated
risk of cancer. Between 50 and 85% of people with the faulty gene will develop
breast cancer during their lifetime.
Although there are genetic tests available for the BRCA genes, they involve
full genetic sequencing, are expensive, and can take up to 18 weeks.
"The ability to sequence regions of the genome at one per cent of
current costs has the potential to revolutionise the ways in which we can
prevent, diagnose and treat cancer." - Professor Sir David Lane,
chief scientist, Cancer Research UK
However, scientists are confident that by next year, it should be possible
to sequence the BRCA genes for as little as £10 and in a much shorter
space of time.
Professor Graham Taylor, head of genomic services at Cancer Research UK, is
trialling the new approach with colleagues from Yorkshire and Wessex Regional
Genetics Laboratories and presented the findings at the annual conference of
the British Society for Human Genetics.
He said that scientists in the field of genomics have been trying to scan entire
genomes of thousands of individuals at a time in order to study diseases such
as diabetes and cancer.
"What we've done is take this technology and see if it can be used
to look for gene changes in a tiny fraction of the genome, for example a single
gene," he explained.
"We know that next generation sequencing technology is incredibly
powerful at detecting gene changes in large stretches of DNA, but we don't
yet know how sensitive it is when applied to small regions sequenced in great
depth.
The new technology could be used to provide a quick and easy way to analyse
individual genes, but until we know more about how accurate it is, the final
clinical diagnosis will still require confirmation by conventional methods."
Professor Sir David Lane, chief scientist at Cancer Research UK, said that
the ability to detect faulty genes that increase an individual's cancer risk
is becoming increasingly important.
"The ability to sequence regions of the genome at one per cent of
current costs has the potential to revolutionise the ways in which we can
prevent, diagnose and treat cancer," Professor Lane said.
"Currently women with a strong family history of breast cancer can
be referred to a specialist genetics service for BRCA1 or BRCA2 gene testing,
but this process can take a long time because looking for a gene fault is
a bit like looking for a single spelling mistake in a very long book.
We very much hope this technology will speed up the process of BRCA1
or BRCA2 testing so that women don't have to wait as long to find out if they
have inherited one of these genetic faults."
However, Professor Lane noted that it will be some time before scientists know
whether the test will be a success.
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