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Titlebook: Diagnostic Genetic Testing; Core Concepts and th David Bourn Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive lic

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Autosomal Recessive Inheritance and Cystic Fibrosis, these investigations. A brief overview of prenatal diagnosis emphasises the deep ethical questions raised by such testing. New specific therapies for cystic fibrosis are mentioned. The final part of the chapter discusses elements of risk and uncertainty, and the use of Bayesian statistics to refine probabilities.
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X-linked Inheritance: A Question of Gender,s (and of a method for determining patterns of X-inactivation) are introduced. The final part of the chapter discusses to what extent a genetic viewpoint is useful in clarifying wider questions of gender.
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DNA Testing: Pulling the Strands Together,eded (encompassing more than solely facilitating management of a condition). The final parts of the chapter are concerned with the uses and misuses of genetic language and the need for a better societal understanding of the benefits and limitations of genetic testing.
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