Genetic Testing for Cancer or Inherited Disease Diagnostics

The Challenge

The function of genes and their protein products are intensively studied from both a basic science and applied translational perspective. 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. For gene testing in cancer diagnostics a Variant of Unknown Significance (VUS) is precisely that – unknown.

GMLs, the solution for determining the impact of VUS on function

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 acids 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.

Shown above is a GML result for a fictitious gene; this table shows 5 variants from a table of over 10,000 SNVs (1). This type of GML has >97% of single nucleotide variants encoding single amino acid substitutions. For the Activity Metric (2), activity is measured against wild-type activity in the first column. A measurement of 100 is 1% of the wild-type (‘baseline’) activity. Pathogenicity (3) is determined from an activity threshold relative to wild-type activity and known pathogenic mutations.

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