Published online by Cambridge University Press: 16 September 2009
Background
This chapter describes a range of genetic tests that are apparently available and how they offer choices to those affected. It explains some of the reasons for genetic testing and some ethical issues that have been raised concerning particular tests, especially in relation to the privacy and control of the information revealed.
Traditionally genetic counselling has aimed to be non-directive and to provide accurate information and an opportunity for discussion so that people can make informed choices for themselves. Decisions need to be based not only on scientific evidence and legal requirements but also on the personal values of the people concerned. In the context of prenatal diagnosis and predictive testing, decisions have life-long consequences for the individual and their families and need due consideration.
Gene testing is available to confirm a diagnosis in a person with symptoms of a condition and can clarify if a healthy relative or a fetus has inherited the gene in the family. Gene testing can thus provide information about the future health of the individual; this is called predictive testing. Carrier testing provides information about risk to offspring. There are screening tests, which are available to the population, for conditions of sufficient frequency that are a low known risk to individuals but can identify those who are in fact at high risk.
Prenatal testing and screening have created options for parents to find out about the health of the baby before it is born.
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