Speaker - Dr Rachel Butler
Wed, May 25th 2016 at 7:30 am - 8:30 am
Dr Rachel Butler -"Advances in Medical Genetics"
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At
our breakfast meeting today, the speaker was Dr Rachel Butler, the head
of the All Wales Genetic Diagnostic Laboratory, speaking on Advances in Medical Genetics.
Dr
Butler explained how the whole of the human genome, which is made up of
22,000 individual genes, can now be examined in hours. Genetic screening has now replaced some tests which
used invasive procedures, thus reducing the risk to patients, for
example in tests for abnormalities in a foetus. It also opens the way
for identifying the specific cause of disease and illness in an
individual, and so makes it possible to give treatment which is specific
to the condition, rather than having to use general drugs which might
or might not be effective.
In the question and answer session,
the debate centred on the problems of handling all this information,
how patients can react to being able to learn so much more about their
condition and the risk of this being inherited by their children, and
the issues relating to patient confidentiality.