Foreword

‘Primary care practitioners don’t need to bother with genetics—it’s all too scientific and the conditions are too rare’. So said a colleague in primary care. ‘But you do genetics all the time’, I replied, ‘by taking a family history and considering its impact’. Indeed, primary care has been doing so for many years as recognized by the Royal College of General Practitioners in a 1998 report. And genetic conditions are common: a 2004 study in general practice indicated that a minimum of one in ten patients has a disorder with a genetic component.

It is particularly important to identify families with single gene disorders which cause considerable ill health and premature mortality, such as familial hypercholesterolaemia, Marfan syndrome, inherited cardiomyopathies, and arrhythmias. Taking a family history may also identify families with a predisposition to common diseases such as cancer, cardiovascular disease, and diabetes, genetic information adding to risks associated with lifestyle, in considering referral, management, and treatment. Primary care physicians may also deal with the genetic aspects of results from the antenatal and newborn screening programmes.

In the future, some believe that tests may identify genetic responses to drug metabolism and susceptibility for common disorders to result in interventions—medical or lifestyle—tailored to a person’s genetic makeup.

The NHS National Genetics Education and Development Centre therefore asked colleagues in general practice what they thought their roles were in the pathway for patients with genetic conditions. General practitioners felt that their role was to identify and refer patients, and to treat and manage the condition when advice had been received from hospital colleagues. They also felt that they had a role in explaining the implications of the genetic condition for the patient and the wider family, offering support and referring as appropriate. These three key themes—identifying patients, clinical management, and communicating genetic information—form the basis of curriculum statement 6, ‘Genetics in Primary Care’, of the Royal College of General Practitioners.

Primary care practitioners are skilled in counselling, screening, and health promotion and have a special understanding of the impacts of health and disease on patients and families. To extend these skills to genetic conditions, then, ‘just in time information’ is needed.

This book provides such information in abundance—ready for that moment during a consultation when a vital piece of information is required to assist in diagnosis, management, or referral. The book’s contents are based firmly in general practice, highlighting consultation and management plans, clinical implications, and necessary genetic information for nearly 100 conditions or clinical situations. These are then followed by investigations or management expected to be undertaken by secondary care. There are sections on appropriate general genetic concepts, such as patterns of inheritance, genetic investigations, and when and how to refer to specialized genetic services. The writers are two primary care physicians and two clinical geneticists; they have combined their experiences of genetics in practice to produce a book with information specifically tailored for genetics in a primary care setting.

Primary care physicians (and specialty trainees) are not expected to act as genetics specialists, but this book will assist in determining whether a condition has a genetic component which may affect management and/or require referral and as a quick review of genetics concepts to answer patients’ questions.

Peter Farndon MSc MD FRCP DCH

Director

NHS National Genetics Education and Development Centre

Professor of Clinical Genetics and Consultant Clinical Geneticist

Birmingham, UK