A course book that provides theory and practical exercises (25 clinical cases with open-ended questions and answers)
Physicians, midwives, medical students and genetic counsellors are often faced with situations in which patients and their families request counselling onor the assessment of the risks of genetic disease reoccurrence. Genetic risk assessment is therefore an essential part of genetic counselling.
Techniques are rapidly evolving and when it comes to risk assessment we must consider results from family history tests as well as biochemical and genetic tests, keeping in mind that these tests do not always have 100% sensitivity.
Furthermore, medical personnel are not always good at calculating probabilities as information from different sources must be interpreted according to mathematical concepts which are sometimes complex. The authors, therefore, place emphasis on this stage: the mathematical interpretation of clinical-biological elements.
This book aims to provide people working in genetic diagnosis with risk calculation methods mainly for monogenic disease but also polygenic diseases. Thanks to high-throughput genotyping, this area of genetics will undergo substantial progress in the coming years.
This exercise book, however, does not replace books that describe genetic diseases, their transmission modes and molecular mechanisms. Determining genetic risk encompasses several stages which this book describes in detail so readers can grasp a progressive understanding of the subject