000 03388nam a22004455i 4500
001 978-3-030-85510-9
003 DE-He213
005 20240729133814.0
007 cr nn 008mamaa
008 211113s2022 sz | s |||| 0|eng d
020 _a9783030855109
_9978-3-030-85510-9
024 7 _a10.1007/978-3-030-85510-9
_2doi
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
072 7 _aMFN
_2thema
100 1 _aBourn, David.
_eauthor.
_4aut
_4http://id.loc.gov/vocabulary/relators/aut
245 1 0 _aDiagnostic Genetic Testing
_b : Core Concepts and the Wider Context for Human DNA Analysis /
250 _a1st ed. 2022.
264 1 _aCham :
_bSpringer International Publishing :
_bImprint: Springer,
_c2022.
300 _aXXII, 131 p. 17 illus., 13 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aGenetic 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.
520 _aOver 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.
650 0 _aMedical genetics.
650 0 _aDiagnosis.
650 0 _aBioethics.
_95378
650 1 4 _aMedical Genetics.
650 2 4 _aDiagnosis.
650 2 4 _aBioethics.
_95378
710 2 _aSpringerLink (Online service)
856 _u#gotoholdings
_yAccess resource
912 _aZDB-2-SBL
912 _aZDB-2-SXB
245 _h[E-Book]
999 _c100806
_d100806