Preface

We have enjoyed writing this new handbook. One of the biggest lessons we have learnt during this project is the complementary nature of the skills of primary care practitioners (PCP) and clinical geneticists. Genetic diseases are often chronic, life-long, and sometimes life-limiting, so caring for the patient and his/her family in the long term and being alert to the potential complications of the diagnosis (medically, socially, and emotionally) falls upon the PCP and his/her team. Similarly, the primary care team, with their intimate knowledge of the individual and his/her family, is often best placed to recognize who may be at risk for a genetic disorder and ensure timely referral. We also recognize that both the long-term nature of primary care and the portability of primary care records when patients move areas, can be a strength in managing genetic disease and helping to identify those at risk.

Because precise diagnosis is the cornerstone of accurate genetic advice, clinical genetics services are resourced to validate diagnoses (i.e. obtain the primary documentation, for example the histology report or cytogenetics report), which may be very difficult from primary care. Clinical genetics services are also networked and resourced to work across extended families where different branches may be living in different regions of the country, which may create obstacles for primary care teams. In addition, clinical geneticists have expertise in the diagnosis of rare disorders and in risk analysis that is not available in primary care. As a result, caring for patients with genetic disorders requires a partnership between primary care and regional genetics services. We hope this book will help that partnership to develop and grow.

We are now in an era where the knowledge gained from the human genome project, to sequence the human genome, is beginning to impact on patient care and management. We hope this handbook will give you a taste of these developments and help you to recognize which patients may benefit from referral to a clinical geneticist. We also hope that it will provide you with sufficient insight into the investigation and management of genetic disorders to support your patient and his/her family through this process and afterwards. Most of all, we trust that that this book will equip you for the changes to practice that our growing understanding of genomic medicine will undoubtedly bring, and give you sufficient knowledge and information to bring the benefits to your patients. If so, we will be participating in the Human Genetics Commission’s vision that there ‘should be a well-funded NHS genetics service supported by a genetically literate primary care work force’.

Guy Bradley-Smith

Sally Hope

Helen V. Firth

Jane A. Hurst