LEADER 03589nam 22005655 450 001 9910523906203321 005 20251202142239.0 010 $a9783030855109$b(electronic bk.) 010 $z9783030855093 024 7 $a10.1007/978-3-030-85510-9 035 $a(MiAaPQ)EBC6804036 035 $a(Au-PeEL)EBL6804036 035 $a(CKB)19410537100041 035 $a(OCoLC)1286430704 035 $a(PPN)258844744 035 $a(DE-He213)978-3-030-85510-9 035 $a(EXLCZ)9919410537100041 100 $a20211113d2022 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aDiagnostic Genetic Testing $eCore Concepts and the Wider Context for Human DNA Analysis /$fby David Bourn 205 $a1st ed. 2022. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2022. 215 $a1 online resource (145 pages) 311 08$aPrint version: Bourn, David Diagnostic Genetic Testing Cham : Springer International Publishing AG,c2021 9783030855093 327 $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. 330 $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 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. 606 $aMedical genetics 606 $aDiagnosis 606 $aBioethics 606 $aMedical Genetics 606 $aDiagnosis 606 $aBioethics 615 0$aMedical genetics. 615 0$aDiagnosis. 615 0$aBioethics. 615 14$aMedical Genetics. 615 24$aDiagnosis. 615 24$aBioethics. 676 $a573.21 700 $aBourn$b David$01080907 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 912 $a9910523906203321 996 $aDiagnostic Genetic Testing$92594282 997 $aUNINA