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David Bourn

Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human DNA Analysis

Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human DNA Analysis

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  • More about Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human DNA Analysis


This book provides an easy-to-read summary of diagnostic genetic testing, covering single gene inheritance, cancer genetic testing, identity, and the gap between promises and benefits. It is written for everyone interested in learning about the process and implications of genetic testing, including health professionals, students, and policy-makers.

Format: Hardback
Length: 131 pages
Publication date: 14 November 2021
Publisher: Springer Nature Switzerland AG


Over the past decade, remarkable advancements in genomic testing have emerged, presenting both a significant opportunity for accurate diagnosis and a heightened risk of encountering uncertain or unexpected findings. This comprehensive book addresses a multitude of questions that arise in this intricate context, offering a concise yet comprehensive summary of the essential concepts in diagnostic genetic testing. It also provides a broad framework to consider the practical and ethical implications of examining human DNA sequences.

The book begins with a foundational introduction, providing ample background knowledge to ensure that readers, regardless of their prior education in genetics, can easily grasp the subsequent chapters. The main body delves into diverse aspects of human genetics and the far-reaching implications of testing within these domains. The author explores not only single-gene inheritance but also the genetic testing of cancers and the invaluable benefits it brings to patients. Special attention is given to the complex questions surrounding genetics and identity.

In the concluding part, the author skillfully brings together the main themes and summarizes the broader significance of genetics. Additionally, the book explores the gap between the promises made by advancements in genetics and the actual benefits realized for patients.

Crafted with a broad audience in mind, this book is designed to educate individuals interested in learning about the process of genetic testing and its broader implications. It serves as a valuable resource for health professionals with a keen interest in genetics, as well as students or scientific trainees seeking an introductory foray into diagnostic genetics. Moreover, professionals in health policy or health journalism will find this book particularly insightful.

Weight: 407g
Dimension: 235 x 155 (mm)
ISBN-13: 9783030855093
Edition number: 1st ed. 2022

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