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• W2019297940 abstract "Wiley-Liss, 1999. £29.50 pbk (251 pages)ISBN 0 471 25154 2This is an excellent, comprehensive and valuable guide to taking a family history. It is written in a friendly, personal style – perhaps more appropriate for a North American readership used to the vernacular than to a European audience. The reader is given a helpful background of the fundamentals of inheritance, and the ‘tools of the trade’ – notation of pedigree data. The ways in which characteristics of a pedigree shed light on potential modes of inheritance of a condition in a family are explained, and numerous tables provide helpful genetic information that can be used for syndrome identification. Although comprehensive, these tables do not always give a clear perspective on the importance of such associations, and the provision of such encyclopaedic information sometimes leads to loss of perspective. Thus, the non-geneticist might not realize the rarity of certain conditions that are listed, and this could lead to the unrealistic overdiagnosis of very rare syndromes. The terminology used is somewhat specialized, but a helpful glossary is provided.Although the text is factually correct and provides a large body of information in an accessible way, occasionally there are some minor inaccuracies of medical fact or emphasis. For instance, neural tube defects are not truly sporadic, as stated, but inherited in a multifactorial way, implying a distinct recurrence after a first occurrence in a family. Similarly, if cystic fibrosis (CF) is really associated with an increased risk of small-bowel adenocarcinoma, this must be very rare and unlikely to lead to the unexpected diagnosis of CF. Also, it could be considered misleading to describe the mode of inheritance of deLange syndrome as ‘imprinting’.The extent of enquiry advocated for taking pedigrees is exhaustive and perhaps unnecessarily comprehensive. However, for a textbook, full details are helpful for reference. Important emphasis is placed on the need to obtain details on unaffected as well as affected relatives. The use of clinical examples to illustrate counselling themes provides a helpful balance between factual information and clinical application.Invaluable insight is given into the way in which genetic information can impact on an individual, and into the lay beliefs about genetics that lead to communication failure between counsellors and those being counselled. Guidance is given on ways to circumvent counselling problems, with examples – such as the use of euphemistic terminology to describe mental handicap (although in the UK the term ‘mental retardation’ – used in this book – is generally replaced by other terms), and the avoidance of judgmental comments. This sensitive approach to genetic counselling is apparent throughout the book, and is of great value.Important areas covered in specific detail include inherited cancer susceptibility, and the causes of specific conditions with multiple aetiologies, such as autism, deafness, short stature and infertility, with the pedigree information that can help to identify the aetiology. These conditions were chosen because they were the ones that were most often enquired about when the author was a resource/information provider for healthcare professionals; they are thus valuable practical examples.The chapter on assisted reproduction is particularly useful and well written; differences in the legal aspects of adoption in different countries might make the otherwise helpful chapter on adoption less relevant to non-American readers. One issue that is not stressed – perhaps because it does not fall within the remit of the book – is the frequent need to obtain a blood (or tissue) sample from a living (or deceased) affected relative of the person being counselled in order to obtain a genetic diagnosis and permit accurate genetic testing within the family. Further discussion about how this might be approached, with consideration for family sensitivities and issues of confidentiality, might have been helpful, although not strictly speaking part of the process of taking a family history.In summary, this book is a very useful and comprehensive guide to pedigree-taking, of an original nature, and full of detailed information about genetic conditions. Few such books currently exist, despite increasing recognition of the importance of a family history. Thus, it is a very useful and encyclopaedic reference that maintains a sympathetic and sensitive attitude to counselling. Its only real drawback is its lack of perspective, which could lead to problems for some of the broad readership at whom it is presumably aimed." @default.
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• W2019297940 title "A guide to the art of taking pedigrees: an analytical and sensitive approach" @default.
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