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Familial hypercholesterolaemia: what you need to know about the MBS listed genetic test and the latest treatment updates


New guidance for familial hypercholesterolaemia (FH) signal the shift into the era of genetic medicine for cardiologists say specialists who foresee increased numbers of individuals being identified with heritable gene mutations from publicly funded genetic testing that came into effect last year.

The updated Guidance released earlier this year covers updates in diagnosis and genetic testing, risk stratification, management and the latest evidence around new treatments.

In this episode lipid specialist Associate Professor David Sullivan and genetics counsellor Catherine Spinks discuss the details of the genetic test and how it fits into diagnosis and screening protocols. And paediatric cardiologist Dr Ari Horton joins us to discuss how the introduction of the MBS funded genetic test will provide the very real opportunity to expand the number of potential cases detected and the latest evidence surrounding the detection and treatment of the condition in children.

Access the guidelines in summary and in full here:

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

This podcast was developed independently by the limbic. Thank you to Amgen Australia Pty Ltd for providing the financial support that made it possible.

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