Genetic screening: ethical issues - Nuffield Council on Bioethics

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106 Recessive The form of inheritance where a genetic defect causes little or no outward effect unless it is present in both of a pair of chromosomes, and therefore has been inherited from both parents (see paragraph 2.4). Sex chromosomes The X and Y chromosomes in human beings that determine the sex of an individual. Females have two X chromosomes in most body cells; males have an X and Y chromosome. Translocation A rearrangement of chromosomal material between different chromosomes, not of the same pair. Trisomy The existence of three chromosomes instead of the normal two of a particular chromosome. X-linked The form of inheritance in which the gene is carried on the X chromosome. (see paragraph section 2.4)
Diseases 107 Only those diseases mentioned in the text are included here. The intention is simply to give a very brief description of the main features and mode of inheritance. For many conditions variations occur and it must be emphasised that no attempt has been made to give a comprehensive account of these. Adrenoleukodystrophy (ALD) Mode of inheritance : X-linked Adrenoleukodystrophy is a very rare inherited disorder affecting boys who normally develop failure of their adrenal glands (producing the hormone cortisol), fits, and deterioration of brain function. For reasons that are not understood, some males (a minority) escape the problems with the central nervous system but may develop Addison’s disease in adulthood (see, for example, Chapter 5, Fig E). There is no known cure or satisfactory treatment and death usually occurs in childhood. The disease is inherited through the mother who carries the defective gene on one of her X chromosomes. The risk for boys inheriting the disease is 1 in 2; 1 in 2 girls will be carriers, like their mother. Alpha-1-antitrypsin deficiency Mode of inheritance : recessive The commonest form of alpha-1-antitrypsin deficiency occurs in about 1 in 3,000 people who inherit an abnormal gene from each parent. Almost all those who smoke will develop progressive lung disease (emphysema) in adult life. In non-smokers, emphysema occurs later or may never develop. About 20% of infants with the disease develop jaundice and some of these may develop liver damage. Carriers with only one abnormal gene usually have no problems but may possibly have an increased risk of emphysema if they smoke heavily. Breast cancer It is believed that several genes play a role in the 25,000 new cases of breast cancer diagnosed in Britain every year, particularly where onset is early or where multiple family members are affected. A gene that predisposes women in some families to breast cancer has been traced to a region of chromosome 17 and it is likely that the gene itself will soon be isolated. Congenital disorders Disorders which are present at birth, not necessarily hereditary. For example the limb deformities caused by the drug thalidomide, or the malformations caused by maternal rubella (German measles), are congenital but not inherited, whereas other forms of malformation may be hereditary.
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NUFFIELD COUNCIL ON BIOETHICS GENET
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ii The broad framework provided as
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Terms of reference iv The terms of
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10 Chromosomal disorders 2.6 Chromo
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any major ethical
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21 Tay-Sachs concluded that “stud
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an X-linked disorder or if either p
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25 children born to younger women (
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27 CURRENT GENETIC SCREENING PROGRA
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30 relatively small numbers of peop
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46 interest may be outweighed by so
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52 (i) (ii) (iii) a genetic registe
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Genetic screening: ethical issues - Nuffield Council on Bioethics

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