Heligenics offers a new product to 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 (GMLs). 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 impossible.
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. The licensees of the GMLs will have a disruptive market advantage that will last for years, if not decades.