Genetic screening: ethical issues - Nuffield Council on Bioethics

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16 3.3 Individuals with a family history of an inherited disorder may undergo genetic testing. Such testing should be distinguished from population <strong>screening</strong>, but has important similar societal effects which are considered in this report. Family studies provide the most practical strategy for detection of the abnormal gene in most dominantly inherited and X-linked disorders. 3.4 Screening programmes often have more than one component. A primary screen may be offered to all members of the population to identify a ‘risk group’, which would then be offered further testing, leading to definitive diagnosis. This sequence applies to many genetic <strong>screening</strong> programmes, depending on the methodology used. For example, the initial <strong>screening</strong> test for phenylketonuria (PKU) is by an indirect method (see paragraph 2.16). Babies with a positive result do not always have the disease and further tests are required to confirm the diagnosis. Where, however, direct methods are better (for example, testing for carriers for cystic fibrosis) no further testing is required for those with positive results. In the case of cystic fibrosis, a small proportion of individuals whose genetic defect is not detected by the current test will be missed. 3.5 Depending upon the mode of inheritance, the genetic abnormality, and the type of test, <strong>screening</strong> may detect individuals:- (i) (ii) (iii) who have the disorder, for example, phenylketonuria (PKU) as presently screened by blood spot in the newborn; who are themselves unaffected, but are carriers of a gene for a recessively inherited disorder (for example, sickle cell disease) and thus at risk of having an affected child; who may themselves develop a disease after many years, for example, Huntington’s disease. It follows that a variety of different practical and <strong>ethical</strong> problems may arise. 3.6 Screening may also be carried out for congenital disorders where a genetic basis may exist but has not been established; for example, ultrasound scanning of a fetus for malformations. 3.7 In the future, increased understanding of the genetic component in common diseases may lead to proposals for <strong>screening</strong> for genetic abnormalities that confer an increased risk for the individual rather than a certainty of developing the disease : for example, <strong>screening</strong> may point to an increased risk of cancer, or diabetes, or mental disease and there may not be simple or guaranteed ways of avoiding the risk or of treating the condition
17 if it develops. It is therefore important to assess, so far as possible, the character and degree of risk, to study existing experience as it increases, and to improve understanding of the social and <strong>ethical</strong>, as well as the technical, implications of genetic <strong>screening</strong>. Principles of genetic <strong>screening</strong> programmes 3.8 The traditionally accepted principles and practice of <strong>screening</strong> for disease were set out in a WHO report in 1968: 1 1 An important disease 2 Known history 3 Latent or early symptomatic state 4 Reliable <strong>screening</strong> test available 5 Definite diagnosis possible and treatment available 6 Natural history improved by treatment 7 Cost effective 3.9 These criteria were designed for the detection of disease. They were formulated before prenatal diagnosis with the associated option of aborting an affected fetus was current. They are not entirely appropriate for genetic <strong>screening</strong>, for example for carriers for a recessively inherited disorder who are themselves healthy (see paragraph 3.5(ii)). For genetic <strong>screening</strong> three goals have been identified. 2 It should:- (i) (ii) (iii) contribute to improving the health of persons who suffer from genetic disorders; and/or allow carriers for a given abnormal gene to make informed choices regarding reproduction; and/or move towards alleviating the anxieties of families and communities faced with the prospect of serious genetic disease. 3.10 Further experience of genetic <strong>screening</strong> can be expected to lead to a more precise definition of its principles and goals; but at present the prime requirement is that the target disease should be serious. The Clothier Committee on the Ethics of Gene Therapy 3 recommended that the first candidates for consideration for such treatment should be those suffering from a disorder which is life-threatening, or causes serious handicap, and for which treatment is unavailable or unsatisfactory. Such disorders would clearly be classed as serious. In the context of
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10.20 We recommend that the Departm
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