Meet the expert: Clinical Genetics
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Meet the expert: Clinical Genetics

Clinical genetics is a service where we
see patients of all ages and discuss with them a genetic diagnosis or a possibility of
a genetic diagnosis. This is a very big regional genetics department and we look
after primarily the four million or so people who live in the south east of
England but in fact patients come to the genetics department at Guy’s from all over
the country to attend some of our specialist clinics where we have particular
expertise in looking after patients who have very rare genetic conditions. Some
patients we see really before they’ve even been born because their pregnant
mothers come to talk about the possibility of a genetic condition in
the pregnancy. We see a lot of children in our clinic and we also see their
adult relatives and some patients in our clinic are quite elderly. So unlike many
other departments in the hospital we actually cover all ages. That’s because we
look after whole families not just individuals. Once people know what their
diagnosis is it means that the doctors who were looking after them, instead of
arranging yet more investigations to try and find out what’s going on, can concentrate rather more on managing
the condition and making sure that we keep them as healthy as possible. the other reason it’s really important to
make a genetic diagnosis is that although initially you may only have one
person in the family who is known to be affected there may be other relatives
who are at risk and by drawing up a careful family tree we can identify who those other relatives are and then offer to see them in the genetics clinic and if appropriate test them too. So we’ve just been designated one of the genomics medicine centres, which means that we will be helping to recruit patients who
want to have their whole genome sequenced. The government has provided a hundred million pounds to sequence the DNA of a hundred thousand patients, some
of whom have rare genetic conditions where we haven’t been able to make a
complete diagnosis yet. And other patients who have a number of different, quite common, cancers such as breast cancer and prostate cancer. And what we’re going to be trying to do is to understand, identify the underlying mutation in their DNA
that’s caused their condition so that we can then think about how to develop better
treatments for their condition with the aim ultimately of improving their lives
living with that particular diagnosis.

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