Genetic screening: ethical issues - Nuffield Council on Bioethics

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6 the size of that risk depends on the sensitivity and the specificity of the particular test. Each and every proposed <strong>screening</strong> service must be assessed on its individual merits. The kind of information that <strong>screening</strong> is intended to reveal, its confidentiality, and the therapeutic options available, are among the matters that need to be taken into account and are explored in our report. 1.17 The profound moral dilemmas that <strong>screening</strong> can create are illustrated by the statements of two women who refused an offer of <strong>screening</strong> for cystic fibrosis early in pregnancy. 1 One of them, who had understood that even if she carried the cystic fibrosis gene there was no cause for concern unless it turned out that her partner also carried the gene, was nevertheless worried: “If he is negative the worry is unnecessary. If he is positive, even more worry would result until the prenatal diagnosis when if the baby is negative, again the worry has been unnecessary.” The other was worried about the moral choice that she might face: “I think I would face a very difficult moral dilemma if I discovered, whilst pregnant, that both my husband and I were CF carriers. I would then want to have the baby screened, and if it had CF I would be very worried about making a decision to have an abortion, which in theory I’m opposed to, but realistically, I don’t know what I’d do.” 1.18 The views cited above are minority views (see paragraph 4.13). For the majority of the women who accepted <strong>screening</strong> for cystic fibrosis the benefits outweighed any temporary psychological stress. The <strong>screening</strong> offered an opportunity to avoid both a child born to suffering and the lifelong emotional cost to the rest of the family in caring for a child in such a condition. But the minority views are important precisely because one test of <strong>ethical</strong> sensitivity is the way in which minority views are taken into account and given an appropriate response. We discuss these matters later in the report.
7 Chapter 2 Scientific basis What genes are 2.1 The inheritance of all our characteristics, including susceptibility to genetic diseases, is dependent on genes and chromosomes. Genes are large molecules made up of a substance, DNA, whose double helical structure allows both copying and division. The particular sequence of individual chemical sub-units in a gene serves as a molecular code to specify the manufacture of a particular protein; an alteration (mutation) at even a single position of the DNA sequence may cause serious malfunction of the resulting protein. Modern advances in genetics are due to the ability to study DNA directly. It is estimated that about 75,000 different human genes exist. At present we have information on only one third of them at most. 2.2 The genes are arranged in a fixed order on the chromosomes. Chromosomes are elongated strings of DNA and protein which occur in the nucleus of every cell in the body. Unlike genes, chromosomes can be seen through a microscope, especially when they become compact during cell division. In the normal human there are two sets of 23 chromosomes, 46 in all. One set of 23 is received from each parent. The members of 22 of the 23 pairs appear identical : these are the autosomes. The remaining pair, the sex chromosomes differ between males and females. Female sex chromosomes are designated XX and male XY. The scientific basis of genetic <strong>screening</strong> 2.3 Medical genetics is the part of human genetics concerned with the role of genes in illness. Traditionally, the analysis of the genetic contribution to illness and human characteristics has been divided into : (i) (ii) (iii) disorders due to changes in single genes; disorders influenced by more than one gene (polygenic); chromosomal disorders.
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counsellors) in particular among th
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Genetic screening: ethical issues - Nuffield Council on Bioethics

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