Genomics in general practice

Description

Advances in genetics and genomics offer great potential for identifying patients at risk of disease and targeting treatment. GPs need up-to-date knowledge and skills in this domain. Genomics in general practice consists of short, practical summaries with key information that a GP might need to manage common genetic conditions and issues of testing in primary care. This resource is intended as a ‘guide’ rather than a ‘guideline’, with weighted recommendations for clinical decision-making. Where appropriate clinical guidelines exist (they are recent and applicable to an Australian general practice context), they have been referenced in the text. The most important information for GPs is listed at the beginning of each chapter under the heading ‘Practice point’. The issues considered in each chapter vary, but many include discussion of relevant tests and when GPs should refer to another health professional or genetics services. Acknowledgements Background Aim of the resource Development process A note on the title of the resource Format Scope Ethical principles Genetic counselling Genetics support groups and organisations Health and life insurance issues Misconceptions about genetics Summary of genetic tests Glossary Acronyms Alzheimer’s disease Autism spectrum disorder Cystic fibrosis Developmental delay and intellectual disability Diabetes Fragile X syndrome and associated conditions Familial breast and ovarian cancer Familial colorectal cancer Familial hypercholesterolaemia Familial melanoma Familial prostate cancer Haemoglobinopathies Hereditary haemochromatosis Hereditary thrombophilia Mental health conditions Neurofibromatosis type 1 Neurological conditions Sudden arrhythmic death syndrome Chromosome microarray Family history MTHFR gene testing Newborn screening Personal genomic testing: Summary Personal genomic testing: More information Pharmacogenomics: Summary Pharmacogenomics: More information Prenatal testing Reproductive carrier screening