A genetic test involves
looking for an alteration in a gene,
which are the building blocks
that tell us how we grow and develop.
There can be lots of different reasons
why people may wish
to have a genetic test.
It depends on the clinical situation.
So, broadly speaking, genetic tests
could be defined in three categories.
A diagnostic test is usually undertaken
where there may be a clinical
of an underlying genetic condition,
for example it may help then
to provide information
about surveillance or early intervention
and, particularly in a child,
potentially some treatment options.
A presymptomatic test
is usually undertaken
for a known genetic condition
in the family,
where the test is undertaken
after full counselling
in an individual who is healthy.
The test can give information
that if that individual
has inherited the gene,
they may develop the condition
at some point in the future.
Carrier testing is to establish
if an individual
carries one copy of a gene.
Individuals who are carriers
are generally healthy,
but if people are shown to be carriers
it may well have reproductive
implications for them in the future.
Having a test for a genetic disorder
is a purely voluntary decision.
It is a very personal decision.
It is recognised
that many, many patients
choose not to have a test
and live without knowing,
so we are here
to support those decisions as well.
As part of the consultation
would go through the details
of what the testing would involve,
so they would explain
what the outcome of a test might mean,
what are the implications
of a positive test,
whether that's something
that the patient wishes to know,
the level of support
that they would require,
what access to services
may be available in the future,
and also of course the wider
implications for other family members.
Many patients request
presymptomatic or predictive testing
because they just want to know.
They wish to have the clarity
to know what is in store for them
but it is often coupled with anxiety,
with fear for what that may hold,
if they have children already.
But it doesn't stop
with just the result being conveyed.
A clinical service
would be able to provide back-up.
If individuals require access
to further information,
more professional psychological support,
then we can put them in touch
with their local GP or local practices,
so the ongoing support and counselling
according to the patient's needs.
The benefits are to provide a diagnosis
and for many individuals
it's removing the burden of not knowing,
so it's providing clarity
about where they stand.
Where a genetic test
provides a clear answer,
it enables more appropriate health
surveillance to be put into place,
it provides access
in terms of appropriate
educational support and social support,
it can clarify some of the avenues
around reproductive options
and increasingly, for a small but
increasing number of genetic conditions,
it also opens up the possibility
of therapeutic or treatment options.