29.04.2014 Views

Genetic screening: ethical issues - Nuffield Council on Bioethics

Genetic screening: ethical issues - Nuffield Council on Bioethics

Genetic screening: ethical issues - Nuffield Council on Bioethics

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

13<br />

Ultrasound<br />

2.17 A quite different but very important technique is ultrasound<br />

imaging, which gives a virtually risk-free method of identifying<br />

structural and some functi<strong>on</strong>al abnormalities which can result from<br />

genetic disease. This technique is widely used for the detecti<strong>on</strong><br />

of fetal malformati<strong>on</strong>s during pregnancy, of which some, but not<br />

all, are genetic in origin. Some early manifestati<strong>on</strong>s of serious<br />

genetic disorders that may develop in later life, such as polycystic<br />

kidney disease (enlarged kidneys with cysts) or certain types of<br />

cardiomyopathy (heart muscle disease) can also be detected.<br />

The importance of genetic variati<strong>on</strong><br />

2.18 Most of the genetic differences that can be detected between<br />

individuals represent normal genetic variati<strong>on</strong> and are not<br />

associated with disease. This variati<strong>on</strong> has been essential for<br />

human evoluti<strong>on</strong> and is seen both within and between<br />

populati<strong>on</strong>s.<br />

2.19 Whether a genetic characteristic is harmful or not may depend <strong>on</strong><br />

factors in the envir<strong>on</strong>ment. Thus in countries where malaria is<br />

comm<strong>on</strong>, individuals, particularly children, who are carriers for<br />

genes causing disorders of haemoglobin, such as sickle cell<br />

disease, have some protecti<strong>on</strong> against malaria. The sickle cell<br />

gene is thus of benefit in such an envir<strong>on</strong>ment. C<strong>on</strong>versely, other<br />

genes which may have had no significant harmful effects in the<br />

past, may cause problems because they provoke an adverse<br />

reacti<strong>on</strong> to certain newly available drugs or anaesthetics.<br />

2.20 Genes and chromosomes are c<strong>on</strong>tinually undergoing change,<br />

rearrangement and interacti<strong>on</strong> as a normal process. Although<br />

some harmful genetic changes can be prevented, for example by<br />

the avoidance of unnecessary irradiati<strong>on</strong> or harmful chemicals,<br />

genetic disorders due to new mutati<strong>on</strong>s can never be entirely<br />

eliminated.

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!