Overview
Explores differing aspects of human genetics and genetic disorders
Covers the broader societal, ethical and philosophical aspects of diagnostic genetic testing
Written for everyone interested to learn about the processes and implications of genetic testing
Access this book
Tax calculation will be finalised at checkout
Other ways to access
Table of contents (8 chapters)
-
Front Matter
Keywords
About this book
Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences.
The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients.
The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
Authors and Affiliations
About the author
David Bourn, Ph.D., FRCPath, is a UK-based state registered clinical scientist and the head of an NHS Regional Genetics laboratory, who has worked in the NHS for more than 25 years. Prior to his involvement in diagnostic genetics, he spent some years in research, with his Ph.D. and the bulk of his postdoctoral work in the field of human molecular genetics. His links with Human Genetics Departments go back to the 1980s and in addition to his familiarity with the evolution of genetic testing over the past three decades, he has an enduring interest in the wider implications of this testing.
Bibliographic Information
Book Title: Diagnostic Genetic Testing
Book Subtitle: Core Concepts and the Wider Context for Human DNA Analysis
Authors: David Bourn
DOI: https://doi.org/10.1007/978-3-030-85510-9
Publisher: Springer Cham
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022
Hardcover ISBN: 978-3-030-85509-3Published: 14 November 2021
Softcover ISBN: 978-3-030-85512-3Published: 14 November 2022
eBook ISBN: 978-3-030-85510-9Published: 13 November 2021
Edition Number: 1
Number of Pages: XXII, 131
Number of Illustrations: 4 b/w illustrations, 13 illustrations in colour
Topics: Human Genetics, Medicine/Public Health, general, Bioethics