ABSTRACT

Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders.

Fully revised by its new author Angus Clarke, and with additional input from colleagues, 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 genomebased 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.

The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

part 1|210 pages

General aspects of genetics and genetic counselling

chapter 2|32 pages

Genetic counselling in Mendelian disorders

chapter 3|12 pages

Common disorders and genetic counselling

chapter 4|22 pages

Chromosome abnormalities

chapter 5|22 pages

Genetic and genomic investigations

chapter 6|12 pages

Dysmorphology and genetic syndromes

chapter 7|12 pages

Carrier testing

chapter 8|10 pages

Predictive genetic testing

chapter 10|16 pages

Special issues in genetic counselling

chapter 11|14 pages

Clinical genetics services

chapter 12|10 pages

Treatments and trials for genetic disease

part 2|194 pages

Genetic counselling: Specific organ systems

chapter 13|13 pages

Neuromuscular disorders

chapter 16|18 pages

Disorders of bone and connective tissue

chapter 17|8 pages

Oral and craniofacial disorders

chapter 18|12 pages

The skin

chapter 19|12 pages

The eye

chapter 20|6 pages

Deafness

chapter 21|16 pages

Cardiac and cardiovascular disorders

chapter 22|4 pages

Respiratory disorders

chapter 23|10 pages

The gastrointestinal tract

chapter 24|8 pages

Renal and urinary tract diseases

chapter 25|12 pages

Endocrine and reproductive disorders

chapter 26|8 pages

Inborn errors of metabolism

chapter 27|8 pages

Disorders of blood and immune function

chapter 28|10 pages

Environmental hazards

part 3|26 pages

Genetic counselling and testing for cancer

chapter 29|4 pages

Cancer as a genetic disorder

chapter 30|4 pages

Colorectal cancer syndromes

chapter 31|6 pages

Breast and ovarian cancer

part 4|38 pages

Genetic counselling in context: The broader picture