Helix replaces Epic Pedigree with a clinical genomics platform that integrates family history, genetic risk assessment, pharmacogenomic guidance, and hereditary disease screening into the routine clinical workflow. As precision medicine moves from the research lab to the exam room, clinicians need genomic information presented in actionable clinical context — not raw variant data that requires a genetics PhD to interpret. Helix translates genomic complexity into clinical decisions.
The cost of whole genome sequencing has fallen from $100 million to under $200. Pharmacogenomic testing can predict drug metabolism, efficacy, and adverse event risk for hundreds of medications. Hereditary cancer panels identify patients at dramatically elevated risk who benefit from enhanced screening. Yet most of this data never reaches the clinician who needs it, because EHR systems treat genomic data as unstructured results that require manual interpretation. Epic Pedigree captures family history and generates pedigree diagrams, but it does not connect that family history to genetic risk models, pharmacogenomic decision support, or hereditary disease screening protocols.
Helix collects structured family history through a patient-facing questionnaire delivered via Clarion Beacon that captures relatives, diagnoses, ages of onset, and outcomes in a format that feeds directly into risk calculation models. The pedigree diagram is generated automatically from structured data — not drawn manually by a genetic counselor. Risk models (Tyrer-Cuzick, PREMM5, Gail) are calculated automatically from the family history data, and patients meeting referral thresholds are flagged for genetic counseling with the risk assessment pre-populated.
When a pharmacogenomic test reveals that a patient is a CYP2D6 poor metabolizer, every codeine prescription is a risk of therapeutic failure, and every tramadol prescription is a risk of toxicity. Helix integrates pharmacogenomic results directly into Clarion Mandate’s prescribing workflow. When a physician orders a medication with a known gene-drug interaction, the system displays the patient’s metabolizer status, the clinical implication, and alternative medications or dosing adjustments recommended by CPIC guidelines — at the moment of prescribing, not after the patient has already taken the drug.
Hereditary cancer syndromes — BRCA1/2, Lynch syndrome, Li-Fraumeni, familial adenomatous polyposis — dramatically elevate cancer risk and require enhanced surveillance, risk-reducing surgery, or chemoprevention. Helix screens every patient against NCCN genetic testing criteria using family history, personal cancer history, and ancestry data. Patients meeting criteria are offered genetic counseling and panel testing with results integrated into the clinical record and linked to surveillance protocol management.
Raw genetic test results contain dozens to hundreds of variants that must be classified by clinical significance: pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. Helix provides structured variant interpretation following ACMG guidelines, with clinical annotations that translate variant classifications into patient-comprehensible language. VUS re-classification monitoring tracks variants of uncertain significance and notifies clinicians when new evidence reclassifies a VUS as pathogenic or benign.
Clinical genomic data becomes exponentially more valuable when linked to longitudinal clinical outcomes across populations. Helix feeds de-identified genomic variant data into Clarion Atlas’s federated research network, enabling population-scale genotype-phenotype correlation studies. A rare BRCA2 variant observed in 12 patients at one institution can be correlated with treatment outcomes across thousands of patients network-wide — generating evidence that informs clinical decisions for future patients carrying the same variant.
Genetic counselors need specialty-specific documentation tools: risk assessment summaries, test result interpretation, patient education materials, psychosocial assessment, and follow-up tracking for cascade family testing. Helix provides a genetic counseling workflow within the clinical record that captures the counseling session, documents informed consent for genetic testing, records the patient’s testing decision, and tracks follow-up for patients who decline testing initially but may reconsider.
An academic cancer center treating 22,000 new cancer patients per year deployed Helix to automate hereditary cancer screening. NCCN criteria screening at every oncology encounter identified 840 patients who met genetic testing criteria but had never been referred for counseling — a 50% increase in identified carriers. Pharmacogenomic integration with Clarion Mandate prevented 142 adverse drug events in the first year by alerting oncologists to metabolism-altering variants before prescribing fluoropyrimidines, tamoxifen, and thiopurines. The pharmacogenomic decision support module eliminated the 12-minute per-medication interpretation burden that had previously made PGx data impractical for routine clinical use.
I am a medical oncologist. I prescribe fluorouracil every day. Before Helix, I had no way to know at the point of prescribing whether my patient had a DPD deficiency that would make fluorouracil lethal. The pharmacogenomic test result was buried in a PDF somewhere in the chart. Now, when I order fluorouracil, Helix shows me the patient’s DPYD status, the clinical implication, and the CPIC dosing recommendation in one alert. I do not have to search for it. I do not have to interpret it. It is there when I need it, in language I understand. That is what precision medicine looks like in practice, not in a research paper.
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