Advances in genetics and genomics offer great potential for identifying patients at risk of disease and targeting treatment.
These guidelines have been developed to provide GPs with up-to-date knowledge and skills in this domain.
The guide is a suite of concise summaries on various clinical topics in genetics and genomics and is based on the best-available current evidence.
Carrier screening is a form of genetic testing that can detect if an individual or couple are carriers of an autosomal recessive and/or X-linked genetic condition, when there is no a priori increased risk based on either partner’s personal or family history.
Providing information for Australian healthcare professionals on the early referral and diagnosis of spinal muscular atrophy (SMA) and other neuromuscular disorders
The National Recommendations for Rare Disease Health Care are eight recommendations to help health professionals provide quality care for people living and diagnosed with rare disease.
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