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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4.14 Equally critical <str<strong>on</strong>g>ethical</str<strong>on</strong>g> <str<strong>on</strong>g>issues</str<strong>on</strong>g> arise from the identificati<strong>on</strong> of late<br />
<strong>on</strong>set diseases such as Huntingt<strong>on</strong>’s disease or Alzheimer’s<br />
disease. For Huntingt<strong>on</strong>’s disease the genetic mechanism<br />
causing the disease was discovered in March 1993 and a specific<br />
test is now available. Is terminati<strong>on</strong> of pregnancy an acceptable<br />
opti<strong>on</strong> when <str<strong>on</strong>g>screening</str<strong>on</strong>g> for late <strong>on</strong>set diseases? Future <str<strong>on</strong>g>screening</str<strong>on</strong>g><br />
programmes will have to provide informati<strong>on</strong> <strong>on</strong> such matters as<br />
the definiti<strong>on</strong> of what c<strong>on</strong>stitutes ‘late <strong>on</strong>set’; the accuracy and the<br />
predictive power of the test for a disease-related gene or genes;<br />
whether the causal relati<strong>on</strong>ship between genetic and<br />
envir<strong>on</strong>mental factors is well established; and what treatment<br />
opti<strong>on</strong>s are likely to become available.<br />
4.15 We have so far c<strong>on</strong>centrated <strong>on</strong> informati<strong>on</strong> given in programmes<br />
in which the defective gene is detected directly and have pointed<br />
out that such programmes are at present research based. But, as<br />
described in Chapter 3, many programmes of <str<strong>on</strong>g>screening</str<strong>on</strong>g> for<br />
genetic disease by indirect methods have been in operati<strong>on</strong> for a<br />
c<strong>on</strong>siderable number of years. The way in which informati<strong>on</strong> is<br />
given and c<strong>on</strong>sent obtained for programmes that are part of<br />
normal medical care (for example, phenylket<strong>on</strong>uria, c<strong>on</strong>genital<br />
hypothyroidism, Down’s syndrome) seem to be very variable<br />
(paragraphs 3.14 and 3.15). The Health Educati<strong>on</strong> Authority’s<br />
Pregnancy Handbook, available free to all women pregnant for<br />
the first time, now has a secti<strong>on</strong> which describes the various<br />
methods of prenatal diagnosis and some of the c<strong>on</strong>diti<strong>on</strong>s that<br />
can be detected, and comments <strong>on</strong> how couples can make use of<br />
the informati<strong>on</strong>.<br />
4.16 A review of routine <str<strong>on</strong>g>screening</str<strong>on</strong>g> for Down’s syndrome in antenatal<br />
care indicates that the informati<strong>on</strong> provided is often not adequate<br />
and that women are not always sure of what tests they have<br />
underg<strong>on</strong>e or what the results mean. 7 In a recent small study of<br />
the psychological c<strong>on</strong>sequences of <str<strong>on</strong>g>screening</str<strong>on</strong>g> for Down’s<br />
syndrome some of the difficulties surrounding the giving of<br />
informati<strong>on</strong> are highlighted: 8<br />
35<br />
“One woman did not read the informati<strong>on</strong> sheet ...<br />
assuming it to be about <str<strong>on</strong>g>screening</str<strong>on</strong>g> for spina bifida.”<br />
“One woman believed she was informed when she had the<br />
test but when the news came that she had a 1 in 20<br />
chance of having a Down’s syndrome baby, she realised<br />
she knew nothing.”