What if the unknown could become known, how could that affect patient treatment?
For interpretation of genetic variants in diagnostic testing, Heligenics eliminates the vast number of VUSs. Heligenics comprehensively measure the significance of VUSs, thereby increasing the accuracy and diagnostic yield of a genetic test. Through a massively parallel in vivo process called the GigaAssay, Heligenics produces what we call a Gene Mutation/Function Library (“GML”). Each GML measures the impact of all possible amino acid substitutions in the functional target protein. For example, one isoform of BRCA1 has 1816 amino acids, and each position along those 1816 amino acids could be substituted with a VUS encoding any of the 19 other amino acids. To individually test each amino acid substitution by other approaches would be impractical. Clients can expand their genetic test offering beyond single substitutions in coding regions, by measuring the impact of nucleotide substitutions in 5’ promoter regions, 3’ untranslated regions, and even double single nucleotide variants as grouped haplotypes.
Companion diagnostics are important for connecting cancer patients with targeted therapies. Heligenics offers a GML in the presence and absence of drugs to identify all resistance mutations in a gene to create more accuracy for companion diagnostics.