Oxford Handbook of Genetics

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The Oxford Handbook of Genetics provides an essential overview of this complex subject, distilled into an accessible format for primary care practitioners and junior doctors. It can be used as an aide memoire to gain advice with individual patients during the working day, or as a reference text to be read over time. Combining the expertise of leading geneticists with the knowledge of experienced general practitioners, the handbook covers the genetics core curriculum as defined by the Royal College of General Practitioners. It includes sections on elementary genetics, single gene disorders, and chromosomal problems, as well as information about the multifactorial diseases, such as ischaemic heart disease, with which practitioners are more familiar. There are also comprehensive sections on antenatal issues and cancers. A comprehensive glossary with explanations of genetic terminology and an extensive list of resources make this book suitable for all healthcare professionals regardless of their level of knowledge or experience. Designed to cross the primary-secondary care interface, this unique handbook covers the gap between general health training and genetic specialist training, including specific advice about when and how to make a referral to a genetics service. Given the rapid growth in the genetic knowledge base, this book is designed to be both accessible and informative as a substantive educational resource for practitioners.

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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This pocket guide to medical genetics for primary care physicians provides essential information for the understanding of genetic disorders as well as basic facts to help guide the initial management of affected individuals.
Purpose: The authors meet their objectives, providing a portable, easy to read guide that can be used as a quick reference in the clinical setting and as an educational source for practitioners who are not geneticists. It provides appropriate, up-to-date advice on when and why patients should be referred to a genetics service.
Audience: Medical students, primary care physicians, and nurse practitioners should have this book, which has information on common disorders seen in primary care such as atopy, ankylosing spondylitis, deafness, diabetes, and dementia. Clearly, maternal-fetal medicine specialists, general obstetricians, and prenatal genetics counselors will find this guide useful as a quick reference to facts that will help them in their daily practice.
Features: After a brief description of the basic concept of clinical genetics, the book provides detailed advice on why, when, and how to refer patients to a genetics service. Each section of every chapter includes a consultation plan for primary care providers that will help in the proper initial management of a patient suspected to have a genetic condition. I found particularly interesting the chapter on sudden cardiac death, a topic of recent interest due to the recognition of specific molecular defects as etiologic factors in disorders such as prolonged QT syndrome. Illustrations are well designed and appropriate, and the glossary and index are helpful.
Assessment: This handbook has a big advantage over other attempts at genetics pocket guides. While most publications attempt to be all inclusive, this wonderful guide provides information about the common disorders likely to be seen in primary care practice and leaves out rare disorders that are the domain of specialists.
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Product Details

  • ISBN-13: 9780199545360
  • Publisher: Oxford University Press, USA
  • Publication date: 12/28/2009
  • Series: Oxford Handbooks Series
  • Edition description: New Edition
  • Pages: 494
  • Product dimensions: 4.10 (w) x 7.10 (h) x 0.80 (d)

Meet the Author

Guy Bradley-Smith is a GP in a large practice in Exeter, looking after 29,000 patients, where he's worked since 1985. He is a previous member of Devon LMC, Vice-Chair Exeter Primary Care Group, and was re-introduced to genetics when asked to do an audit of Genetic referrals to the Peninsula Genetics service by SHA specialist commissioners in 2005. He has been the lead for Exeter Primary Care Trust for learning disability since 2001, with involvement in the 2008 SHA Darzi review in the South West. He is currently leading the community module structured academic programme for final year medical students at the Peninsula Medical School in Exeter and Honorary University Fellow. Sally Hope has been a GP Principal since 1986 at the Woodstock Surgery, North Oxfordshire. She was a founding member of the Primary Care Group in Gynaecology in 1990. She was on the national council of the British Menopause Society 1997-2000. She is the RCGP representative on the NICE osteoporosis guidelines group, and on the Human Medicines Commission Women's Health advisory board. She is an Honorary Research Fellow in Women's Health, Dept Primary Health Care, University of Oxford.
Jane Hurst has been a Consultant in Clinical Genetics in Oxford since 1992. She specialises in prenatal and neonatal aspects of genetics and also works in the Oxford Craniofacial Unit assessing children and counselling families with congenital craniofacial malformations. Additionally she has developed expertise in the counselling of British Pakistani families from understanding more about their culture, beliefs, and expectations.

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