BookAngus Clarke ; with contributions from Alex Murray and Julian Sampson.
Summary: "This eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genome-based investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice"--Publisher's description
Contents:
Part 1: General aspects of genetics and genetic counselling. Genetics and genetic counselling: an introduction
Genetic counselling in Mendelian disorders
Common disorders and genetic counselling
Chromosome abnormalities
Genetic and genomic investigations
Dysmorphology and genetic syndromes
Carrier testing
Predictive genetic testing
Prenatal diagnosis, antenatal screening and reproductive aspects of medical genetics
Special issues in genetic counselling
Clinical genetics services
Treatments and trials for genetic disease
Part 2: Genetic counselling: specific organ systems. Neuromuscular disorders
Central nervous system: paediatric and neurodevelopmental disorders
Central nervous system: adult-onset and psychiatric disorders
Disorders of bone and connective tissue
Oral and craniofacial disorders
The skin
The eye
Deafness
Cardiac and cardiovascular disorders
Respiratory disorders
The gastrointestinal tract
Renal and urinary tract diseases
Endocrine and reproductive disorders
Inborn errors of metabolism
Disorders of blood and immune function
Environmental hazards
Part genetic counselling and testing for cancer
Cancer as a genetic disorder
Colorectal cancer syndromes
Breast and ovarian cancer
Rare mendelian cancer syndromes and other cancers
Part genetic counselling in context: the broader picture
Communication in genetic counselling
Population aspects of genetic counselling and genetic screening
Genetics, society and the future
Glossary
Appendices. Further reading and information
Practical genetic counselling: the life story of a book.