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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: Paperback / softback
Length: 131 pages
Publication date: 14 November 2022
Publisher: Springer Nature Switzerland AG


Over the past decade, remarkable advancements in genetic testing have emerged, presenting both immense opportunities 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 complex realm, offering a concise yet comprehensive summary of the essential concepts in diagnostic genetic testing. It also provides a broad context for understanding the practical and ethical implications of examining human DNA sequences.

The book begins with a foundational introduction, providing sufficient background knowledge to enable readers with no prior expertise in genetics to grasp the subsequent chapters. The main body delves into diverse aspects of human genetics, exploring the broader implications of testing in these fields. The author encompasses not only single-gene inheritance but also genetic testing for cancers and the remarkable benefits it brings to patients. Special attention is given to the complex questions surrounding genetics and identity.

In the concluding part, the book brings together the main themes and summarizes the profound significance of genetics. It also examines the gap between the promises made by advancements in genetics and the actual benefits realized for patients. This book is written with a broad audience in mind, including individuals interested in learning about the process of genetic testing and its broader implications. It is particularly aimed at health professionals with a keen interest in genetics, students or scientific trainees seeking an introduction to diagnostic genetics, and professionals involved in health policy or health journalism.

Weight: 260g
Dimension: 155 x 233 x 13 (mm)
ISBN-13: 9783030855123
Edition number: 1st ed. 2022

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