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Research based analysis increases the genetic diagnostic yield of inherited heart disease

Introduction

The Australian Genomics Cardiovascular Genetic Disorders Flagship aims to translate genomic research on people with genetic heart diseases into clinical practice. After accredited clinical genome sequencing, a number of participant’s genetic cause of disease remains unsolved. We performed research-based secondary analysis of genome sequencing data to identify additional causes of disease.

Methodology

We looked for single nucleotide variants, copy number variants and deep intronic splice-gain variants in 573 genes implicated in cardiac diseases. We also investigated variants in the mitochondrial genome.

Results

To date, we found a potential genetic cause of disease in 14 out of 123 participants who did not have a genetic cause of disease identified following clinical genetic testing. These include a nonsense variant in PRDM16 and TBX20, and a mitochondrial genome variant which are all clarified as disease-causing variants by clinical genetics services. There are also deep intronic splice gain variants in MYBPC3, CACNA1C and SCN5A gene are waiting to be validated by functional research. In addition, two patients had incidental genetic findings related to cardiac conditions has been found.

Conclusions

Secondary analysis of genome sequencing data identifies additional causes of inherited heart disease that were missed using current clinical genetic testing approaches.