David Bourn: Diagnostic Genetic Testing

Cover: 9783030855093 | Diagnostic Genetic Testing | David Bourn | Buch | xxii | Englisch

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Sprache: Englisch

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Beschreibung

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 concludingpart 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.

Über den Autor

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.

Zusammenfassung

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

Inhaltsverzeichnis

Genetic Testing, Some Themes and Some Basics.- Autosomal Dominant Inheriance and Huntington Disease.- Autosomal Recessive Inheritance and Cystic Fibrosis.- X-linked Inheritance: a Question of Gender.- Genetics Testing in Cancer.- DNA Testing, Genes and Identity.- Out of Sequence: Genome-Scale Testing .- DNA Testing: Pulling the Strands Together.

Details

Erscheinungsjahr:	2021
Fachbereich:	Andere Fachgebiete
Genre:	Medizin
Rubrik:	Wissenschaften
Medium:	Buch
Inhalt:	xxii 131 S. 4 s/w Illustr. 13 farbige Illustr. 131 p. 17 illus. 13 illus. in color.
ISBN-13:	9783030855093
ISBN-10:	3030855090
Sprache:	Englisch
Ausstattung / Beilage:	HC runder Rücken kaschiert
Einband:	Gebunden
Autor:	Bourn, David
Auflage:	1st ed. 2022
Hersteller:	Springer International Publishing Springer International Publishing AG
Maße:	241 x 160 x 15 mm
Von/Mit:	David Bourn
Erscheinungsdatum:	14.11.2021
Gewicht:	0,407 kg

Artikel-ID: 120365948