In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover:
- 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
- noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation
- a new integrated treatment of epigenetics
- mosaicism, ‘RASopathies’ and disorders of the spliceosome are described in new Disease boxes
- dysmorphology in more detail
New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists.
Table of Contents
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. What is epigenetics?
8. How do genes affect our metabolism, drug responses and immune system?
9. How do researchers identify genes for mendelian diseases?
10. Why are some conditions common and others rare?
11. When is screening useful?
12. Is cancer genetic?
13. Should we be testing for genetic susceptibility to common diseases?
14. What clinical services are available for families with genetic disorders?
Guidance for self-assessment questions