Ethical aspects of counselling families with familial mental retardation

Abstract

Familial mental retardation is an X-linked recessive syndrome caused by a trinucleotide repeat expansion and may manifests the phenomena of pre-mutation and mosaicism. The finding of X-linked mental retardation in a child has serious implications for the normal members of the family who might be carriers of this condition. Often the parents are not aware of the familial nature of the condition because of the apparent absence of a family history. The mother may be reluctant to convey the message that the condition affecting her child runs in the family and that half of her unsuspecting relatives are likely to be carriers. Does the doctor who is aware of the condition carry a responsibility of notifying relatives that they could be at risk or would this be an infringement on confidentiality? Genetic counsellors should have due regard to the fathers' attitude when he discovers that the mother was solely responsible for transmitting the disease to his child. There are several implications in counselling young relatives who are planning to get married or of young couples who are already married. If gene testing proves them to be carriers, should they be counselled about pre-natal diagnosis and possible termination of pregnancy which carriers its own inherent ethical problems? Should normal male relatives be alerted to the possibility that they could be pre-mutation carriers? Male pre-mutation carriers do not present a risk of their children being affected but may transmit to them an expanding mutant gene, which may show up in their grandchildren. What type of counselling should be given to safeguard future generations? The implications of being a gene carrier for FMR also extend to medical and life insurance policies. Is it right that carriers of X-linked genetic diseases be refused insurance or requested to pay increased premiums? What genetic information should be passed on to insurance companies? These ethical issues will be discussed critically.