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Updated: Apr 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic testing: medico-legal issues
1MBBS, MFM(clin), FRACGP, is Manager, Medico-Legal and Advisory Services, MDA National.
Background:
The availability and frequency of genetic testing is increasing. Genetic testing poses some unique ethical and legal issues for medical practitioners because of the potential to identify genetic variants that carry implications for the risk of disease in the future for the patient and their relatives. The regulatory framework within which genetic testing is provided in Australia is also changing.
Objective:
This article examines some medico-legal issues associated with genetic testing that general practitioners (GPs) are likely encounter in their practices.
Discussion:
There is inevitable involvement of the GP in the long term care of a patient (and possibly their family) following genetic testing, regardless of whether or not the GP has ordered the testing. Cases are presented to illustrate some of the medico-legal issues that may arise from direct-to-consumer genetic testing, information disclosure to genetic relatives and requests for parentage testing.
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