5.

GENETIC TESTING

Identification of the genes involved in some genetic

conditions has led to the development of genetic
tests for these diseases. Most tests are for changes in a single
gene. In the last 20 years there has been an increase in the
number of genetic tests available. A small sample of blood or a
swab of cheek cells is taken from the patient. In the laboratory,
the DNA in the sample is examined to see if it contains the gene
mutation associated with the particular disease. Genetic tests
can confirm the diagnosis of a disease and can sometimes also
be used to work out who may be at risk of developing a
particular disease.
 

1. What do you think are the advantages and disadvantages of having a genetic test to predict
whether you are likely to develop a particular genetic disease in the future? Here are some words
and phrases that you may like to include in your answer: early treatment, lifestyle changes,
decisions about having children, testing embryos, positive results, knowledge of future, healthy
children, save lives, late onset diseases.
Advantages
If the test is positive: You could make changes to your lifestyle to reduce the likelihood of getting the
disease. You would be able to take part in screening programmes for the disease and receive early
treatment for the disease. You would be able to make informed decisions about having children and
about whether to have genetic tests such as embryo screening, particularly for late onset diseases.
If the test is negative: You would be very relieved and you would be able to stop worrying about the
possibility of developing the particular disease.

Disadvantages
If the test is positive: You may become depressed if you think you know what the future holds. The
positive result means only that you are at increased risk, so you will still be uncertain about whether
you will develop the disease. Knowing the result may put you at a disadvantage when trying to get
employment or insurance cover.

2. Consider the advantages and disadvantages that you have listed above. Would you want to have
genetic tests to find out what illnesses you are likely to get in the future? Explain your decision.

Your own opinion, backed up with facts and evidence, should appear here. There are no right and
wrong answers, as long as you have justified your answer.

3. Choosing to take a genetic test is a difficult decision to make. Some people decide not to have
genetic tests because they fear that they may be seriously disadvantaged by the results. This is
known as genetic discrimination. Some laws have already been implemented to protect against
abuse of genetic knowledge. Name two examples of organisations that would be interested in
finding out genetic information about particular individuals and explain why they would find this
information useful.
1. Employers could use genetic information to pick the best person for the job and to avoid taking on
someone who is likely to develop a serious disease.

2. Insurance companies could use genetic information either to deny life insurance to or to ask for very
high premiums from someone predisposed to developing a serious disease.