Andrew Read & Dian Donnai 
New Clinical Genetics, fourth edition [PDF ebook] 
A guide to genomic medicine

New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine.




New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the
integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding.



Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking.



Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders.



The unique case-based structure and format remains the same, but substantial new material has been added to cover:

• polygenic risk scores – now starting to become useful clinical service tools


• preimplantation diagnosis


• noninvasive prenatal diagnosis


• companion diagnostics for prescribed drugs


• liquid biopsies in cancer


• epigenetics and gene regulation


• the widespread use of next-generation sequencing as a routine diagnostic tool


• the checking of a patient’s whole exome for the cause of their problem

Table des matières

1 What can we learn from a family history?

2 How can a patient’s chromosomes be studied?

3 How do genes work?

4 How can a patient’s DNA be studied?

5 How can we check a patient’s DNA for gene mutations?

6 What do mutations do?

7 Is cancer genetic?

8 How do researchers identify genes for mendelian diseases?

9 Why are some conditions common and others rare?

10 How do our genes affect our metabolism, drug responses and immune system?

11 How are genes regulated?

12 When is screening useful?

13 Should we be testing for genetic susceptibility to common diseases?

14 What clinical services are available for families with genetic disorders?

15 How to use linkage to map a disease gene

Glossary

Index

Disease index