Genetic testing:
What is your view?
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
For each of the following situations,
please give your response as:
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
1
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• Screening tests for Down syndrome should be offered
to all pregnant women as the worry caused to women
with healthy babies who have an abnormal screening
test but a subsequent normal diagnostic test is greatly
outweighed by the benefit to the women found to
have affected pregnancies.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
2
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• When children are found by the neonatal screening
programme to be carriers of sickle-cell disease, it is
best not to inform the family because of the
unnecessary worry this can engender during childhood.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
3
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• Although Duchenne muscular dystrophy (DMD) is not
yet treatable, neonatal screening (by measuring
creatine kinase on the Guthrie card) of all male births
should be performed as finding an affected male can
lead to identification of mothers who are DMD carriers
and so at risk of having further affected boys (birth
incidence 1/3000 males).
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
4
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• The antenatal screening programme identified a
pregnancy where the fetus had multiple anomalies
caused by a chromosomal imbalance. The otherwise
healthy father was found to be a carrier of the
chromosome rearrangement. The geneticist offered to
test his relatives' chromosomes to see if they might be
at risk of having affected children, but the man did not
want them contacted. The geneticist should attempt
to contact them without the man's consent.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
5
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• A GP has deeply held and sincere objections to
termination of pregnancy. He decided not to refer a
patient seeking advice about prenatal diagnosis for a
genetic disorder.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
6
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• A woman's mother has advanced Huntington's disease
(HD). Although the woman is at risk of developing HD,
she does not wish to be tested. Her 20-year-old son
wants to decide whether to start a family or not and so
is tested. He is found to have inherited the HD gene,
showing that he will develop the condition. His mother
realises that she will develop the condition, and
commits suicide. The geneticist looking after the son
was right to test him.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
7
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• A man has an adult onset muscle disorder for which
there is no cure. He and his partner did not wish to
have prenatal testing but asked that the baby be
tested at birth to determine whether the child will
develop the condition. The geneticist should test the
child.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
8
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• A man with haemophilia (the gene is on the X
chromosome) has two daughters under 12. He wishes
them to be tested to see if they are carriers. He should
be advised that they must both be carriers and that no
tests are necessary.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk
9
Strongly agree - Agree - Neutral - Disagree - Strongly disagree
• The marriage arrangers of a religious group with a high
incidence of a fatal autosomal recessive disease wish
to arrange for carrier testing of all couples prior to
marriage. They ask for the results to be given only to
themselves. They will arrange that two carriers do not
marry and by keeping the results confidential, carriers
will not feel stigmatised.
© 2012 NHS National Genetics Education and Development Centre
Genetics and genomics for healthcare
www.geneticseducation.nhs.uk