Oxford Desk Reference: Clinical Genetics and Genomics

Oxford Desk Reference: Clinical Genetics and Genomics
2nd Ed.
2017 © Oxford University Press Inc.
Helen V. Firth; Jane A. Hurst
ISBN-13: 978-0-19-955750-9


A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine.


  • • The gold standard for clinical consultation in genetics
  • • Includes 79 clinical approaches and 54 common consultations, in an easy-to-use A-Z format
  • • Sets out practical strategies for investigations and management
  • • Includes the most frequent referrals to a geneticist for out-patient or ward consultation
  • • Each section has been reviewed by world experts in the field

Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts.

The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including sudden cardiac death, Neonatal screening, and Ciliopathies.

The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex.

Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Quotes, Reviews or Testimonials

"Dr. Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better. The magnificent work done with this book and the marvelous presentation of the information suggest that as the field of clinical genetics expands, further editions will be needed. This is a must have book."

-- Luis Escobar, MD, MS (St. Vincent Hospital and Health Care Center) Doody's Review > - previous edition


This title directed to the professional in medical genetics with an emphasis on clinical practice. The nature of the book, which consists of specific summaries of clinical subjects, requires a basic degree of clinical knowledge. This is a most-have tool for all clinical geneticists who require quick and specific reviews in clinical practice. It also represents a great tool for medical genetics residents and fellows who are in the process of learning the practice of medical genetics.

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