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.
Author(s): Royal Australian College of General Practitioners
Language: English
Pages: 83
Tags: genomics, genomic medicine, general practice
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
