Format

Format

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 (ie 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. Where relevant, useful websites and other resources to access for further information for GPs and patients are listed at the end of the chapter.

In this edition, topics have been re-organised into three categories:

• Chromosome microarray
• Newborn screening
• Personal genomic testing
• Pharmacogenomics
• Prenatal testing
• Reproductive carrier screening

• Alzheimer’s disease
• Autism spectrum disorder
• Cystic fibrosis
• Developmental delay and intellectual disability
• Diabetes
• Familial breast and ovarian cancer
• Familial colorectal cancer
• Familial hypercholesterolaemia
• Familial melanoma
• Familial prostate cancer
• Fragile X syndrome and associated conditions
• Haemoglobinopathies
• Hereditary haemochromatosis
• Hereditary thrombophilia
• Mental health conditions
• MTHFR gene testing
• Neurofibromatosis type 1
• Neurological conditions
• Sudden arrhythmic death syndrome