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Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2012 NHS National Genetics Education and Development Centre Genetic testing: What is.

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Presentation on theme: "Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2012 NHS National Genetics Education and Development Centre Genetic testing: What is."— Presentation transcript:

1 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre Genetic testing: What is your view?

2 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre For each of the following situations, please give your response as: Strongly agree - Agree - Neutral - Disagree - Strongly disagree

3 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 1 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

4 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. Strongly agree - Agree - Neutral - Disagree - Strongly disagree 2

5 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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). 3 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

6 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 4 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

7 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 5 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

8 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 6 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

9 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 7 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

10 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 8 Strongly agree - Agree - Neutral - Disagree - Strongly disagree

11 Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre 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. 9 Strongly agree - Agree - Neutral - Disagree - Strongly disagree


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