Title: Genetic Testing - Dr James Whitworth
Description: The podcast covers basic information on genetic testing for a patient
that is considering having a genetic test and it discusses the implications of the
process for the person and their family members.
Transcript
This podcast is about taking a genetic test and what that might mean for you and
your family members.
Genetic tests are usually blood tests that aim to detect changes in your genes that
can have effects on health, for example increasing the risk of certain cancers. These
changes are usually inherited so they may also give information about gene changes
in other members of the family, even if they haven’t had a test themselves. The tests
and the meaning of results vary significantly between the individual genes examined.
This podcast aims to briefly recap on some of the more common issues surrounding
them that may have been discussed during your consultation.
It is important to remember that whether to have a genetic test is entirely up to the
individual patient. Test results can have serious and sometimes unexpected
consequences and for this reason, it is vital to fully consider them before entering
into it.
There are a number of reasons why a genetic test might be offered. It may be an
attempt to diagnose a medical condition suspected of having a genetic cause. In the
case of cancer genetics, this is usually because the pattern of cancers that occur in a
family suggests that this might be the case. There may already be a proven harmful
gene change in the family that increases the risk of cancer. If this is the case it can be
more easily tested for to see if a family member has inherited it and therefore at
increased risk.
If you are offered a genetic test, the next step is to think about what the advantages
and disadvantages of actually taking it might be.
Tests can often give a yes or no answer as to whether you carry a potentially harmful
gene change or not, especially if there is a known change in the family or the
changes that cause a certain disease are well known. This is not always the case,
however. Sometimes results may not be 100% either way. Even if a potentially
harmful gene change is definitely shown, the effect of it may not be predictable. It
may mean you are at risk of a certain cancer but not certain to develop it.
If a diagnosis can be made based on the result, this can lead to earlier detection and
treatment of cancer. This is often through closer monitoring or even preventative
treatments such as breast removal. People often find that knowing their results can
be beneficial in itself (even if the news isn’t good) because they feel less uncertainty
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about their future. At the same time, there may be little effective treatment or
prevention available and people may prefer to live with the uncertainty of not
knowing rather than face the anxiety of knowing they are more likely to develop
cancer.
Knowing if you have or carry a genetic condition that can be passed on to children
helps many potential parents to plan their families. This may simply be because they
are able to go into a pregnancy fully aware of the potential consequences for the
child but may open the possibility of testing an unborn baby for the same condition.
Genetic testing can also have effects on other spheres of life that you may not have
considered. These include getting insurance policies and consequences for
employment.
Genetic test results are confidential. If you choose to disclose results to family
members bear in mind that they may also be affected in similar ways to you by that
information. This is because your result may give them information about whether
they are at risk or allow them to be tested themselves. This may also affect their
family planning. It may even bring to light issues of paternity, for example
inadvertently revealing to an individual that they were adopted as a child.
Clearly, it is important to consider how and to whom you might communicate the
information obtained from your test result. It may be difficult to contact relatives
with such information who may not share your views about testing. While they may
benefit from this knowledge, it may cause them distress to know that they may also
have inherited or passed on a gene change. Genetic counsellors and clinical
geneticists can assist with the process and arrange consultations with family
members should they wish to discuss things further.
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