Clinical Diagnostics

Experiments that test the significance of 10,000 variants in a gene, making the unknown known

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We empower clinical diagnostic labs  to unlock the answers

In current clinical oncology practice, genetic testing is used for diagnosis and treatment. This is enabled because routinely observed variants with known impact guide therapeutic choices. However, quite often, when a variant is unknown, called a Variant of Unknown Significance (VUS), no diagnosis or tailoring of therapy to the patients’ individual tumor profile is ascertained. Heligenics help solves this problem with its Gene Mutation Libraries (GMLs). Our GMLs provide clinical diagnostic solutions by empowering companies to test more than 10,000 variants in the coding and promoter region of a target gene. The same libraries are also used for companion diagnostic and whole gene biomarkers.

Understanding Variants of Unknown Significance (VUSs)

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.

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Our Clinical Diagnostic Solutions

Accurate diagnostics with precision whole gene biomarkers

Powering precision prescriptions for accurate treatment of patient and better outcomes

Increased accuracy and diagnostic yield of diagnostic test by identifying promoter variants that impact gene expression

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