Genetic screening: ethical issues - Nuffield Council on Bioethics
Genetic screening: ethical issues - Nuffield Council on Bioethics
Genetic screening: ethical issues - Nuffield Council on Bioethics
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Selective <str<strong>on</strong>g>screening</str<strong>on</strong>g> <strong>on</strong> the basis of familial susceptibilities is <strong>on</strong>e<br />
way of doing this. However, populati<strong>on</strong> <str<strong>on</strong>g>screening</str<strong>on</strong>g> for polygenic<br />
diseases is probably some way off; it will be of questi<strong>on</strong>able value<br />
until the causative significance of the genetic factors and the<br />
relative importance of the envir<strong>on</strong>mental influences are much<br />
better understood.<br />
1.9 The phrases ‘genetic testing’ and ‘genetic <str<strong>on</strong>g>screening</str<strong>on</strong>g>’ are<br />
sometimes used interchangeably. There is, however, a significant<br />
difference, though not a completely hard and fast <strong>on</strong>e, between<br />
testing an individual for a c<strong>on</strong>diti<strong>on</strong> or defect that other evidence<br />
suggests may be present, and <str<strong>on</strong>g>screening</str<strong>on</strong>g> all members of a<br />
populati<strong>on</strong> for a defect or c<strong>on</strong>diti<strong>on</strong> where there is no prior<br />
evidence of its presence in the individual. An example of the first<br />
is testing for the Huntingt<strong>on</strong>’s gene in the limited number of<br />
families known to be at high risk of developing the disease<br />
because they have an affected member. An example of the<br />
sec<strong>on</strong>d is the <str<strong>on</strong>g>screening</str<strong>on</strong>g> of all newborn children for<br />
phenylket<strong>on</strong>uria (PKU). Testing of a sub-populati<strong>on</strong>, such as<br />
Ashkenazi Jews for the Tay-Sachs gene, might properly be<br />
regarded as <str<strong>on</strong>g>screening</str<strong>on</strong>g>. Nevertheless, the distincti<strong>on</strong> between<br />
testing and <str<strong>on</strong>g>screening</str<strong>on</strong>g> is important in several respects, including<br />
the <str<strong>on</strong>g>ethical</str<strong>on</strong>g> problems of obtaining informed c<strong>on</strong>sent and the<br />
handling of unexpected informati<strong>on</strong>. In this report we are<br />
primarily c<strong>on</strong>cerned with the <str<strong>on</strong>g>ethical</str<strong>on</strong>g> aspects of genetic <str<strong>on</strong>g>screening</str<strong>on</strong>g><br />
programmes.<br />
1.10 We define genetic <str<strong>on</strong>g>screening</str<strong>on</strong>g> as a search in a populati<strong>on</strong> to identify<br />
individuals who may have, or be susceptible to, a serious genetic<br />
disease, or who, though not at risk themselves, as gene carriers<br />
may be at risk of having children with that genetic disease. While<br />
it is individuals who are screened, the results will normally have<br />
wider implicati<strong>on</strong>s. Depending <strong>on</strong> the nature of the genetic defect<br />
that is identified and its pattern of inheritance, siblings and other<br />
blood relati<strong>on</strong>s, as well as existing and future offspring, may be<br />
affected. Thus the status of genetic informati<strong>on</strong> raises <str<strong>on</strong>g>ethical</str<strong>on</strong>g><br />
questi<strong>on</strong>s that differ significantly from the normal rules and<br />
standards applied to the handling of pers<strong>on</strong>al medical records.<br />
Does the pers<strong>on</strong> with a defective gene have a right to withhold this<br />
informati<strong>on</strong> from other family members? Does he or she have a<br />
duty to disclose it? What are the rights and/or resp<strong>on</strong>sibilities of<br />
the rest of the family? These questi<strong>on</strong>s are explored in Chapter<br />
4, <strong>on</strong> C<strong>on</strong>sent and Counselling, and Chapter 5, <strong>on</strong> C<strong>on</strong>fidentiality.<br />
1.11 Screening programmes have a useful part to play in a health care<br />
system that aims to help people maintain good health as well as<br />
treating disease and accidents. Already well-established and<br />
familiar are the <str<strong>on</strong>g>screening</str<strong>on</strong>g> of all pregnant women for their rhesus<br />
blood group and all newborn infants for phenylket<strong>on</strong>uria (PKU).<br />
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