By Justin Farris

Phosphorus Research: Comprehensive Next Generation Sequencing Assay for Identifying Pathogenic Variants Associated with Cardiovascular Disease

At the American College of Cardiology Scientific Sessions, held March 17-19 in Washington, D.C. this year, Phosphorus announced the launch of genetic tests for a number of cardiogenetic diseases, including inherited cardiomyopathies, arrhythmias, and familial hypercholesterolemia.

An additional highlight of the meeting was the presentation of our scientific poster titled “Comprehensive Next Generation Sequencing Assay for Identifying Pathogenic Variants Associated with Cardiovascular Diseases.” This poster, authored by members of the Phosphorus team, focused on validating the performance of Phosphorus’s panel tests for cardiomyopathies and arrhythmias, including the tests’ analytical and clinical sensitivities and the specificity of Phosphorus’s next generation sequencing methods. [To view the poster, scroll to the end of the article.]

Methods:
A targeted Next Generation Sequencing panel consisting of 288 genes, including exons, promoters, 5’- UTRs, 3’-UTRs, selected introns, coding sequences, and specific mutations was designed to include genes directly linked with cardiovascular genetic disorders like cardiomyopathies, arrhythmias, and specific lipid disorders. The assay was validated using samples from the 1000 genomes project and followed the preliminary FDA guidelines for coverage, sensitivity, specificity and accuracy.

Results:
Our preliminary data of a subset of genes that have been associated with hypertrophic cardiomyopathy revealed high sensitivity, specificity, and positive predictive value. The accuracy was confirmed by analysis of known SNVs, indels and CNVs using 1000 genome samples, as well as samples from patients with documented clinical history and positive molecular results.

Conclusion
Phosphorus’s comprehensive genetic test can identify clinically important SNPs, indels, and CNVs in genes associated with cardiovascular disorders. The test showed excellent analytical sensitivity and specificity, and clinical sensitivity. Further clinical validation with a larger sample set is ongoing.

Acknowledgements
We thank the patients who provided DNA samples and medical reports, and whose help and participation made this work possible. This project was supported, in part, by the Indiana Clinical and Translational Sciences Institute funded, in part by Grant Number UL1TR001108 from the National Institutes of Health, National Center for Advancing Translational Sciences, Clinical and Translational Sciences Award and the National Center for Research Resources, Construction grant number RR020128 and the Lilly Endowment. We thank the Hypertrophic Cardiomyopathy Association (HCMA) for their help collecting patient samples.


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