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 on dealing 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.
About the Author
Guy Bradley-Smith has been a GP in a large, 29000 patient, practice in Exeter since 1985. Re-introduced to genetics at a conference in 2004, and supported by meetings with the GPSIs in genetics at the NGEDC, he became increasingly involved in the primary care genetic agenda. For Exeter PCT, he was the lead for Learning Disability from 2001 to 2008, and is currently part of the Learning Disability Clinical Leaders Network. He is an Honorary Clinical Lecturer at the Peninsular College of Medicine and Dentistry. 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.
Table of Contents
1. The impact of genetic disease on families