Genetics in Primary Care
an introductory guide

Imran Rafi and John Spicer

respectively Senior Lecturer, Primary Care Education, St George’s University of London
and General Practitioner; Associate Director, GP Department, London Deanery and
General Practitioner, South London

Genetics and Primary Care

‘As long as there have been clinicians, there have been conversations between them and their patients about the influence of family on disease and disorder. Only more recently has genetics emerged from the arena of research into every day clinical care, and increasingly within the purview of primary care.’

Increasingly, primary care professionals are faced with challenges in dealing with patients who have been affected by a genetic disorder, or whose family history is of concern. A basic understanding of clinical genetics and the role of the genetics centres leads to greater confidence in the management of these patients.

This book is an ideal introduction to the principles of genetics. It outlines the key influences that will affect primary care including screening programmes, the role of genetics education (such as the RCGP Genetics Curriculum) and national guidelines. It provides information on basic clinical genetics and includes disease presentation and some of the more common clinical genetic conditions seen in primary care, such as cystic fibrosis, breast cancer and the haemoglobinopathies. It addresses some of the key ethical issues that may be faced including patient confidentiality, the ethics of reproductive genetic medicine and relevant medico-legal cases. The wider societal impact of genetics is also discussed.


An introduction to the increasing impact of genetics into primary care, this book is invaluable for every primary healthcare professional.


‘Very Helpful. Highly readable. Genetics has become part of mainstream primary care, interwoven with the daily work of many health professionals who practise in the community. Its importance has been underlined by the various Department of Health’s genetic initiatives, and by the inclusion of a detailed genetic syllabus in the RCGP curriculum for General Practice. Genetics is relevant from the cradle to the grave; it is a highly significant aspect of reproductive health, and of the care of people with common diseases. The ethical issues it raises help to clarify the moral basis of our practice of medicine.’ Michael Modell, in the Foreword


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In partnership with

UK Thalassaemia

Supported by

Genetic Interest Group
UK Genetic Testing Network



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