Cancer Diagnostics

Cancer is a group of diseases caused by changes in DNA. Mutations alter cell behavior, driving uncontrollable growth and malignancy. These abnormalities can take many forms, including DNA mutations, rearrangements, deletions, amplifications, and the addition or removal of chemical marks. These changes can cause cells to produce abnormal amounts of particular proteins or make misshapen proteins that do not work as they should. Often, a combination of several genomic alterations works together to promote cancer.

Once cancer-causing changes are identified, clinicians and scientists can better understand the molecular basis of cancer growth, metastasis, and drug resistance. This process is supported by our product CancerKB, which connects mutations and other biomarkers with existing FDA-approved treatment options or ongoing clinical trials.

We build a state-of-the-art diagnostic capability that allows Clinicians and Researchers to analyze tumor DNA, apply the guidelines by Association for Molecular Pathology (AMP) identifying pathogenic tumor-driving genomic aberrations. The findings are summarized in a clinical report along with all literature citations and supporting evidence.

VSClinical allows for the clinical interpretation of variants based on ACMG & AMP Guidelines. The VSClinical guided workflow enables following the American College of Medical Genetics (ACMG) guidelines used to identify and classify causal variants for inherited disease risk, cancer predisposition and the diagnosis of rare diseases. As an optional add-on, VSClinical can follow the Association for Molecular Pathology (AMP) guidelines used for performing targeted cancer gene panel tests popular in molecular pathology labs to report significant biomarkers of clinical utility in precision medicine.

Golden Helix CancerKB is a database of professionally curated cancer interpretations for genes, biomarkers, clinical evidence for drug sensitivity and resistance, and diagnostic and prognostic evidence. Access information regarding a gene’s role in cancer and cancer hallmarks along with descriptions of relevant biomarkers varying from point mutations, regional biomarkers, and genomic signatures. Interpretations and treatments are automatically associated with relevant biomarkers leveraging therapeutic evidence from the FDA, EMA, and NCCN Guidelines.

Get in Contact

If you are interested in starting a discussion about how Golden Helix software can assist in your cancer workflow, please fill out the form below, and we will send you the details!

Recommended Learning Materials

We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!