Overview
"It will be the basic aim of this book," writes Peter J. Bridge, "to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks." This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed.
New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations.
From reviews of the first edition: "To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters." -- Journal of Medical Genetics
"A usefulreference book." -- American Journal of Human Genetics
The book contains black-and-white illustrations.
Editorials
From The Critics
Reviewer: Ira S. Salafsky, MD(Evanston Hospital)Description: This is the second edition of a book originally published in 1994 that covers some of the mathematical aspects of genetic counseling.
Purpose: The purpose is to provide a general approach to risk calculations in genetics. By working through the examples in this book, the reader will be able to effectively apply Bayesian calculations to modify risks in genetic counseling. In a simple, straightforward manner, the author leads the reader through clinical problems that can easily be generalized to a variety of clinical situations.
Audience: This book is written for individuals involved in genetic counseling. Clinical geneticists, residents in genetics, and genetic counselors will find it useful. The author has had extensive experience in the mathematical aspects of genetic counseling, which provides him with the resources necessary to present this subject in an effective manner.
Features: Figures and tables are clear and synthesize the data described in the text effectively. They provide clarity and aid in the understanding of the mathematical principles involved. The layout of the book contributes to its usefulness.
Assessment: It logically and simply takes the reader through the Bayesian modification of risks in a variety of genetic situations. Individuals involved in genetic counseling will be able to apply the examples in this book directly to the problems they encounter in genetic counseling. The new chapters on gene mapping and linkage disequilibrium and the sections on the heredity predisposition to cancer extend the usefulness of this excellent text.
Ira S. Salafsky
This is the second edition of a book originally published in 1994 that covers some of the mathematical aspects of genetic counseling. The purpose is to provide a general approach to risk calculations in genetics. By working through the examples in this book, the reader will be able to effectively apply Bayesian calculations to modify risks in genetic counseling. In a simple, straightforward manner, the author leads the reader through clinical problems that can easily be generalized to a variety of clinical situations. This book is written for individuals involved in genetic counseling. Clinical geneticists, residents in genetics, and genetic counselors will find it useful. The author has had extensive experience in the mathematical aspects of genetic counseling, which provides him with the resources necessary to present this subject in an effective manner. Figures and tables are clear and synthesize the data described in the text effectively. They provide clarity and aid in the understanding of the mathematical principles involved. The layout of the book contributes to its usefulness. It logically and simply takes the reader through the Bayesian modification of risks in a variety of genetic situations. Individuals involved in genetic counseling will be able to apply the examples in this book directly to the problems they encounter in genetic counseling. The new chapters on gene mapping and linkage disequilibrium and the sections on the heredity predisposition to cancer extend the usefulness of this excellent text.Booknews
In order to help people make their own assessment of a published manuscript or the risk assigned to a family member, Bridge (medical genetics and pathology, U. of Calgary) explains the fundamentals of how geneticists start with laboratory results and end up with a number representing genetic risk. He avoids abstract equations in favor of worked examples using numbers instead of symbols. Without trying to provide an example of every possible scenario, he offers principles and techniques by which readers can make their own adaptations. His revisions from the 1994 edition include a new discussions of haploid risk calculation, cancer-specific testing, and DNA polymorphisms to test paternity and analyze zygosity. Includes a glossary without pronunciation. Annotation c. by Book News, Inc., Portland, Or.Booknews
To help readers with no background in genetics assess a published text or a risk factor assigned to a family member, explains the process by which laboratory results are turned into numbers representing genetic risk. Uses numbers rather than abstract symbols, and discusses procedures rather than specific conditions. Annotation c. Book News, Inc., Portland, OR (booknews.com)5 Stars! from Doody