Cardiovascular Disease Summary
The Cardiovascular Genetic Disorders Flagship is an Australian-wide project enabling genomic testing for patients with genetic heart conditions such as inherited cardiomyopathy, primary arrhythmia and congenital heart disease. The Flagship is recruiting up to 600 participants from across the country to undergo whole genome sequencing. Some of the goals of the Flagship include:
- Collect evidence to develop “best practices” in cardiac genetic testing. This will help inform policy and educate the clinical workforce.
- Evaluate genetic testing for congenital heart disease.
- Determine the effectiveness of whole genome sequencing in the clinical diagnoses and treatment.
To be able to achieve these goals, it is necessary to collect high quality clinical data alongside the genomics data generated as part of the whole genome sequencing. The clinical data is currently being collected in the REDCap platform which, even though flexible and easy to use, hinders the standardisation of this information.
The project included the design of REDCap forms to capture patient data, done in consultation with flagship clinicians, and the development of value sets to constrain the search space of autocomplete widgets used in the forms. The user interface uses a pattern that allows entering free text descriptions whenever a SNOMED CT concept is not found. These free text descriptions were used to find gaps in SNOMED CT based on data for 276 patients. The report concludes that SNOMED CT is suitable to do deep phenotyping in this clinical area and also provides recommendations on how to improve the issues that were found. The value sets that were developed are also made available and can be used as the basis for one or more cardiovascular genomics reference sets.