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Updated: Jul 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genetics and preventive health care
Jon Emery1, Kristine Barlow-Stewart, Sylvia A Metcalfe
1Discipline of General Practice, University of Western Australia. jon.emery@uwa.edu.au
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.
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