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Case/Article Review 15
You have two minutes to read the enclosed article, and you will subsequently be asked a range of questions by the interviewer. You may wish to make notes, however please note you will not be allowed to refer to your notes or the article during the discussion.
‘A new test allows doctors to diagnose genetic disorders in fetuses early in pregnancy by sequencing small amounts of fetal DNA in the mother’s blood.
Non-invasive prenatal tests are already available for chromosome disorders such as Down’s syndrome. Two years ago, a similar test was developed for recessive single-gene diseases, which occur when someone has two copies of a faulty gene. That test is particularly useful when one or both parents are known to be carriers for inherited diseases such as sickle cell anaemia, haemophilia or cystic fibrosis.
Now there is a test that looks at 30 genes associated with dominant genetic diseases, which occur when someone has just one copy of a faulty gene. These usually occur because of a mutation in the sperm, egg or embryo, and are more common when one of the parents is relatively old. Around one in 600 babies is born with one of these conditions. The test will likely be used after an ultrasound has shown that the fetus has a skeletal abnormality, or it may be offered to couples in which the father is relatively old.'
(Adapted from: https://www.newscientist.com/article/2192032-blood-test-can-diagnose-fetal-genetic-disorders-early-in-pregnancy/)
Outline the main issues raised.
‘A new test allows doctors to diagnose genetic disorders in fetuses early in pregnancy by sequencing small amounts of fetal DNA in the mother’s blood.
Non-invasive prenatal tests are already available for chromosome disorders such as Down’s syndrome. Two years ago, a similar test was developed for recessive single-gene diseases, which occur when someone has two copies of a faulty gene. That test is particularly useful when one or both parents are known to be carriers for inherited diseases such as sickle cell anaemia, haemophilia or cystic fibrosis.
Now there is a test that looks at 30 genes associated with dominant genetic diseases, which occur when someone has just one copy of a faulty gene. These usually occur because of a mutation in the sperm, egg or embryo, and are more common when one of the parents is relatively old. Around one in 600 babies is born with one of these conditions. The test will likely be used after an ultrasound has shown that the fetus has a skeletal abnormality, or it may be offered to couples in which the father is relatively old.'
(Adapted from: https://www.newscientist.com/article/2192032-blood-test-can-diagnose-fetal-genetic-disorders-early-in-pregnancy/)
Outline the main issues raised.
Average Candidate Response
This article explores the potential as well as the use of genetic testing in fetuses. Through use of genetic testing, a range of conditions can be diagnosed earlier in pregnancy.
This article explores the potential as well as the use of genetic testing in fetuses. Through use of genetic testing, a range of conditions can be diagnosed earlier in pregnancy.
Excellent Candidate Response
An important issue the article brings light to is the ethics surrounding the prenatal diagnosis of genetic conditions. In this text, it is stated that a new test has been produced that allows dominant genetic disorders to be identified, expanding the number of conditions that can be recognised prior to birth.
Screening foetuses can be beneficial; should a condition be present that may harm the baby, an early diagnosis can allow prenatal treatment that may be lifesaving, and could also permit the mother to put necessary measures into place to prepare for the possibility of such a condition. Furthermore, such tests would provide the mother with autonomy, by giving her all the appropriate information that she could use to make a fully informed decision about how to proceed.
However, one must consider the risks of undergoing prenatal screening. Should the foetus have a positive result, this may encourage the mother to consider abortion, which could be viewed as unethical and may also cause the mother distress and worry, which could have further consequences on the baby. Additionally, these tests are not 100% accurate, and thus may produce false positives that would cause an unnecessary strain on the patient.
Nonetheless, whilst there may be ethical dilemmas of prenatal testing, it must be argued that these tests allow a mother to have full knowledge of any risks to the foetus’ health, allowing her to make informed decisions regarding her pregnancy.
An important issue the article brings light to is the ethics surrounding the prenatal diagnosis of genetic conditions. In this text, it is stated that a new test has been produced that allows dominant genetic disorders to be identified, expanding the number of conditions that can be recognised prior to birth.
Screening foetuses can be beneficial; should a condition be present that may harm the baby, an early diagnosis can allow prenatal treatment that may be lifesaving, and could also permit the mother to put necessary measures into place to prepare for the possibility of such a condition. Furthermore, such tests would provide the mother with autonomy, by giving her all the appropriate information that she could use to make a fully informed decision about how to proceed.
However, one must consider the risks of undergoing prenatal screening. Should the foetus have a positive result, this may encourage the mother to consider abortion, which could be viewed as unethical and may also cause the mother distress and worry, which could have further consequences on the baby. Additionally, these tests are not 100% accurate, and thus may produce false positives that would cause an unnecessary strain on the patient.
Nonetheless, whilst there may be ethical dilemmas of prenatal testing, it must be argued that these tests allow a mother to have full knowledge of any risks to the foetus’ health, allowing her to make informed decisions regarding her pregnancy.