New Clinical Genetics

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.