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Using genomics to improve care of inherited cardiac diseases

Garvan Institute of Medical Research

  • Cardiovascular Early-Mid Career Researcher Grant
Date Funded:
  • 18 November, 2021
Chief Investigator/s:
  • Associate Professor Jodie Ingles

Project Summary

This project develop evidence for an expanded role for cardiac genetic testing, to include clarifying diagnosis and improving management/outcomes.

What is the issue for NSW?

At present, cardiac genetic testing for inherited cardiovascular diseases is used primarily to ascertain whether ‘at-risk’ relatives carry the genetic variant or not. Whether that relative will go on to express disease, and how severe that might be, is unknown but influenced my many unknown factors. Associate Professor Jodie Ingles believes there is a far greater role for cardiac genetic testing, and that genotype can not only guide clinical diagnosis in those where this is not easily achieved, but also guide clinical management to improve outcomes.

Precision-based management of patients and families with inherited cardiovascular diseases could improve care and outcomes. There are significant expertise in cardiac genetics in NSW. By leveraging existing studies, this research has the capacity to generate internationally significant insights.

What does the research aim to do and how?

Based on the proposed work, this project will uncover new genes and report unrecognised disease phenotypes, that will directly benefit families. This research will generate important evidence about the impact of polygenic risk scores and non-genetic factors on gene-positive family members whose chance of expressing disease is currently unknown. Finally, this project will show that genotype-specific sub-groups have unique risks for developing adverse events, highlighting a need for genotype-guided management. Associate Professor Ingles will leverage existing studies that she has been integral in developing and further cement NSW as a leader in the cardio genomics field.