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  • Print publication year: 2008
  • Online publication date: October 2009

22 - Genetic testing and screening


Mr. and Mrs. A have recently had a baby son. They are both carriers of cystic fibrosis, although neither has the condition. Although they knew the risks of producing a child with cystic fibrosis, they decided to proceed with a pregnancy and now wish to know not only if their son has cystic fibrosis but also if he is a carrier.

Mrs. B attends her general practitioner wanting to be referred for a test for predisposition to breast cancer. Her mother had breast cancer and died at the age of 41. She is convinced that because of this family history she also may die prematurely, and she wishes to know the facts in planning her future life.

What is genetic testing and screening?

Although genetic testing and screening have a number of issues in common, they are different in their scope. Genetic “testing” applies to the determination of some genetic factor in an individual, whereas screening aims to ascertain the prevalence of such a factor in a population or population group where there is no evidence in advance that any particular individual has it (Danish Council of Ethics, 1993; Nuffield Council on Bioethics, 1993, 2006; Chadwick, 1998). Genetic testing is normally an issue when either an individual requests it, for example because of knowledge of a family history, or is referred by a medical practitioner. Screening programs, although they will involve actual testing of individuals, are typically part of a public health program, for example in response to a governmentdetermined need to address a given health issue.

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