Since the first
edition of this book in 1989 there have been enormous changes in clinical
genetics, reflecting the knowledge generated from the tremendous advances in
molecular biology, culminating in the publication of the first draft of the
human genome sequence in 2001, and the dissemination of information via the
internet. The principles of genetic assessment and the aims of genetic
counselling have not changed, but the classification of genetic disease and the
practice of clinical genetics has been significantly altered by this new
knowledge. To interpret all the information now available it is necessary to
understand the basic principles of inheritance and its chromosomal and
molecular basis. Recent advances in medical genetics have had a considerable impact
on other specialties, providing a new range of molecular diagnostic tests
applicable to many branches of medicine, and more patients are presenting to
their general practitioners with concerns about a family history of disorders
such as cancer. Increasingly, other specialties are involved in the genetic
aspects of the conditions they treat and need to provide information about
genetic risk, undertake genetic testing and provide appropriate counselling.
All medical students, irrespective of their eventual career choice therefore
need to be familiar with genetic principles, both scientific and clinical, and
to be aware of the ethical implications of genetic technologies that enable
manipulation of the human genome that may have future application in areas such
as gene therapy of human cloning. The aim of this third edition of the ABC is
therefore to provide an introduction to the various aspects of medical genetics
for medical students, clinicians, nurses and allied professionals who are not
working within the field of genetics, to generate an interest in the subject
and to guide readers in the direction of further, more detailed information. In
producing this edition, the chapters on molecular genetics and its application
to clinical practice have been completely re-written, bringing the reader up to
date with current molecular genetic techniques and tests as they are applied to
inherited disorders. An introduction to the internet in human genetics has also
been included. There are new chapters on genetic services, genetic assessment
and genetic counselling together with a new chapter highlighting the clinical
and genetic aspects of some of the more common single gene disorders.
Substantial alterations have been made to most other chapters so that they reflect
current practice and knowledge, although some sections of the previous edition
remain. A glossary of terms is included for readers who are not familiar with
genetic terminology, a further reading list is incorporated and a list of
websites included to enable access to data that is changing on a daily basis.
As in previous editions, illustrations are a crucial component of the book,
helping to present complex genetic mechanisms in an easily understood manner,
providing photographs of clinical disorders, tabulating genetic diseases too
numerous to be discussed individually in the text and showing the actual
results of cytogenetic and molecular tests.
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