A computer method can help to tailor treatments for patients with inherited heart disease, it was announced last night.
The scientists behind the genomic system for precision cardiology say it verifies which genetic variations and potential “hot spots” are linked to different types of inherited heart diseases where the functioning of the heart muscle is impacted. The outcomes would then inform the types of treatments needed.
The global study was undertaken by researchers from the Wellcome Sanger Institute, University of Cambridge in the UK, the Massachusetts Institute of Technology, USA, and Lund University, Sweden, using an integrated computerised system from genomic data combined with biological and chemical information.
Writing in the latest edition of npj Genomic Medicine, they describe how the model predicts how genetic variations may contribute to changes in troponins.
They went on to analyse freely available, global data from about 100 previous studies, with more than 980 patients, to investigate the impact of genetic variations on the interactions between proteins in the heart muscle.
This enabled them to create a method that shows the different genetic “hot spots” and their clinical outcomes.
Lead author Dr Rameen Shakur, clinical scientist in cardiology at Massachusetts Institute of Technology, said: “This study is the next step in integrating precision cardiology into clinical care, and working more closely with clinical genetics colleagues and patients with their families, bridging the gap between research and day to day treatment decisions. This research has allowed us to also open the door to potential new therapies, which we hope to introduce soon.”
Professor Sir Mark Caulfield, chief scientist at Genomics England, added: “This new tool is a significant advancement in precision cardiology, with real potential to benefit patients with inherited heart disease and influence genomic healthcare.”
The researchers say further research is needed to see if new drugs could be developed to target some of these genetic hotspots.
Shakur R Ochoa JP, Robinson AJ et al. Prognostic implications of troponin T variations in inherited cardiomyopathies using Systems Biology. npj Genomic Medicine 14 June 2021; doi: 10.1038/s41525-021-00204-w
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