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Evaluating the clinical utility of polygenic risk scores for inherited cardiac disease

Home Research projects using our data Evaluating the clinical utility of polygenic…

Primary organisation: Institute for Molecular Bioscience, The University of Queensland

Principal Investigator: Dr Sonia Shah

Flagship requested: Cardiovascular genetic disorders

Co-applicants: Professor Julie McGaughran (Queensland Health), Dr John Atherton (Queensland Health)

Approval date: March 2022

Applicant’s project summary:

Current genetic testing for individuals diagnosed with genetic heart disease only identifies a causal gene mutation in ~30% of patients.

A negative genetic test is currently unhelpful because it is still possible that there is genetic cause for a person’s heart disease that was simply not detected by the method used. Not knowing the cause of disease can have negative psychological impacts on patients (e.g. feelings of guilt that they have the diagnosis because of their lifestyle).

This project will evaluate the use of new statistical genetic methods to try and increase the number of patients in whom we can identify the cause of disease. Findings will inform future guidelines on genetic testing in inherited cardiac disease.


More projects

Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias

The role of TTN variants in Inherited Cardiomyopathies and Arrhythmias

Genomic diagnosis and gene discovery in rare disease via analysis of existing samples and datasets

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