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Both members of a couple come from families with a history of the same severe di

ID: 100579 • Letter: B

Question

Both members of a couple come from families with a history of the same severe disease (i.e., affected children do not live beyond a year or two after birth) caused by an autosomal recessive mutation. The disease appears in all people homozygous for the mutation and is present shortly after birth. People heterozygous for the mutation have, as they get older and to varying degrees, a higher risk for specific health problems that require medical care. The couple is deciding whether, before having children, they should be genetically tested for the mutation. List the pros and cons of their being genetically tested. Consider the question from all perspectives (i.e., with respect to privacy, medical care, emotional effects, and ethical implications).

Explanation / Answer

Genetic testing of the babies before birth is quite beneficial if seen from medical care point of view. Disorders like thalassemia, sickle cell disease, anencephaly, down's syndrome etc can be identified quite early and thus parents can decide if they want such a baby who might not be able to live a normal life or have a life at all. For certain diseases, intra-uterine measures can be taken to prevent them too.

With respect to privacy, genetic testing can be made confidential under doctor-patient relationship. This way it won't affect the privacy of the parent's decision.

Ethically genetic testing can be misused. It can be used for female foeticide indirectly. Revealing the sex of the baby can lead to male child preference which is already prevalent in our society.

Emotionally, parents can be emotionally disturbed after knowing the results of the test but it is anyway better than knowing them after the birth of the baby.

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