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内容説明
The process of genetic counselling involves many key components， such as taking a family genetic history， making a diagnosis， and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counsellors， the mathematics and statistics involved can be a major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear， reader-friendly guide， Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and ?key points? in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counsellors， geneticists， and all those involved in providing medical genetic services. In this new edition， Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters， and he has included more working examples， a popular feature of the book.
Book Description
Genetic counselling is widely accepted as an integral part of the management of every patient with an inherited disorder， and the rapid developments in human and medical genetics have reinforced the importance of competency in risk calculation. Fully updated since the first edition (1991) this book provides a simple introduction for risk calculation for genetics counselling，， describing how risks can easily be estimated or calculated for most counselling situations. Easy-to-use， with worked examples， this book covers all patterns of inheritance. In this second edition， Introduction to Risk Calculation for Genetic Counselling now includes a chapter on cancer genetics， and there are also new sections on anticipation， gonadal mosaicism， the potential use of susceptibility loci， three-way chromosome translocations and meiotic drive. Reviews of the first edition: ’This is a good book’ American Journal of Human Genetics ’I would recommend this book to any clinicians involved in aspects of genetic counselling’ Genetical Research Introduction to Risk calculation for Genetic Counselling.. ’is simple， clear and accurate.’ ’There is no doubt that this will be a popular book.’ Journal of Medical Genetics ’Introduction to risk calculation in genetic counselling more than fulfills its aim to be a ?user-friendly introduction to risk calculation.... For those involved in the delivery of genetic counselling services.? It is clear in style， with worked example， and all within 150 pages.’ BMJ ’This new text is to be welcomed as it is readily accessible to the majority of clinicians and is， in essence， a book that should be in the ?working bookshelf?!’ Neuromuscular Disorders
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