Genetic Testing for Cancer and Rare Disease Diagnostics
Less than 1/3 of patients receive targeted therapy as less than 1% of mutations in cancer genes are known.
The function of genes and their protein products are intensively studied from both basic science and applied translational perspectives. Of the greater than 250 known cancer ‘driver’ genes, less than 1% of the variants encoding single amino-acid substitutions have known functional or clinical impact. These variants are called Variant of Unknown Significance (VUS) is precisely that – unknown.
Comprehensive variant interpretation with the GigaAssay™ technology
Comprehensively measure the significance of VUSs
Increase accuracy and diagnostic yield of a genetic test
Measure the impact of all possible amino acid substitutions
Comprehensive Gene mutations Libraries will advance rare disease organizations
Imagine taking months, not years to obtain the critical data to modernize genetic testing
Mutation Effects on Gene Activity (MEGA-Maps™) are the solution for determining the impact of variants on function and clinical outcome
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 using the GigaAssay™ technology, Heligenics produces what we call a Mutation Effect on Gene Activity (MEGA-Map™). Each MEGA-Map™ measures the impact of all possible amino acid substitutions in the functional target protein. For example, one isoform of BRCA1 has 1,816 amino acids, and each position 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 MEGA-Map™ will have a disruptive market advantage that will last for years, if not decades.