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Background: Advances in our understanding of the genetics of common chronic disease is beginning to impact on clinical practice and preventive health care., Objective: This article discusses the potential for genetic medicine to inform disease prevention strategies. It describes two examples already affecting clinical general practice: familial hypercholesterolaemia and hereditary haemochromatosis. These represent important inherited conditions that, if diagnosed early, can be simply treated and their complications avoided., Discussion: General practitioners can play an important role in the early diagnosis of these conditions and subsequent screening of at risk relatives. These conditions highlight the potential for genetic medicine to be applied to support tailored disease prevention in general practice.

Background: Genetic disorders of the blood are common inherited conditions of global impact. The haemoglobinopathies and clotting disorders represent two areas of significance to Australian primary care practitioners., Objective: This article describes the haemoglobinopathies and thrombophilias and their relevance to primary care practitioners. In particular it describes the role of the general practitioner in identifying who is at risk of being a carrier of, or at risk of developing, these conditions., Discussion: Global migration patterns to Australia have meant that the carrier frequency of haemoglobinopathies has increased in recent years. General practitioners play a key role in carrier screening and ideally should consider screening of couples in pre-pregnancy situations wherever possible. Genetic predisposition to thrombophilias is an important factor regarding the risk of thrombophilias and should be considered as part of the indications for screening.

Background: Genetic screening programs in Australia are primarily carried out during pregnancy for maternal thalassaemia carrier status, chromosomal conditions and neural tube defects in the fetus, and for a number of conditions in the newborn., Objective: This article describes these programs and the general practitioner's role, particularly around offering prenatal screening that includes nongenetic aspects (eg. smoking, alcohol), to enable good practice., Discussion: General practitioners can be involved in offering prenatal screening and in giving increased risk results from prenatal and newborn screening, with due consideration of informed decision making and counselling about the meaning of the result. Increased risk results from these screening programs are followed up by further testing where required. As genetic contribution to diseases, especially complex common conditions, becomes better understood, more genetic tests will become available. This may impact on the role of the GP in population genetic screening programs.

Background: A comprehensive family history, regularly updated and including the patient's ancestry and cultural background can aid in diagnosis, risk prediction, referral and genetic testing., Objective: This article discusses the professional and support services available to families following the identification of a genetic condition or mutated gene, conferring individual or reproductive risk., Discussion: Genetic testing for a range of conditions is available for diagnostic, carrier, predictive and presymptomatic purposes. Genetic testing for ancestry promoted widely on the internet has little or no scientific validity. Patients should be strongly encouraged to share their genetic information to enable cascade genetic testing. Genetics services provide current information, and where appropriate, discussion of reproductive options and genetic testing after consideration of all the implications and support for the decision making and its consequences engendered. Support groups for specific conditions are important partners in the provision of support for families with genetic conditions.