Aimed at medical students, genetic counsellors and clinical geneticists, this book provides the reader with a concise summary of post-genomic human genetics and guidance as to how our current understanding can be utilized in clinical practice. The book links genetics and clinical practice throughout using realistic case scenarios which are discussed throughout the book.

Readers can take a problem-based approach to learning by working through each of the cases, or a more conventional approach by tackling each of the chapters in the order dictated by their course. The authors have based the book around the requirements of the NHS genetics education centre and the ASHG: which state that 'every physician who practices in the 21st century must have an in-depth knowledge of the principles of human genetics and their application to a wide variety of clinical problems'.

The book benefits from a carefully designed format and layout to aid understanding. Each chapter includes self-assessment questions, separate boxes containing diagnostic methods and approaches, and common disease boxes. There are over 300 clinical photograph and figures, to further illustrate the points being discussed. Printed in full-colour throughout.

What can we learn from a family history?

How can a patient's chromosomes be studied?

How do genes work?

How can a patient's DNA be studied?

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

What do mutations do?

What is epigenetics?

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

How do researchers identify genes for mendelian diseases?

Why are some conditions common and others rare?

When is screening useful?

Is cancer genetic?

Should we be testing for genetic susceptibility to common diseases?

What can we do about genetic disease?