PGx Toolkit assists qualified laboratory professionals in standardizing and reviewing discrete genetic observations generated by the laboratory’s validated analytical process.
The Toolkit presents proposed results, supporting observations, processing notes, ambiguities, reference sources, and limitations for laboratory review. Final reportable results remain subject to the laboratory’s validated procedures and professional approval.
The Toolkit implements a laboratory-controlled procedure. It does not independently produce a final diagnostic result, and no calculated value reaches clinical interpretation or a released report without professional review.
No proposed or unresolved result proceeds to clinical interpretation or report generation until a qualified laboratory professional approves it.
The Toolkit operates on laboratory-generated results. It does not perform sequencing, signal analysis, base calling, alignment, primary variant calling, or analytical copy-number determination.
Dashed outline marks a proposed result that has not been approved. Solid cobalt marks the laboratory’s control point and the approved result released under its procedure.
Every recommendation is attributed to its source guideline — CPIC, DPWG, or the FDA — and to the version of that guideline in effect when it was applied.
Peer-reviewed gene–drug guidelines, each assigned a CPIC evidence level and strength of recommendation.
Associations the FDA has evaluated, organized into three sections by strength of evidence, alongside pharmacogenomic information in approved drug labeling.
Dosing guidelines issued by the DPWG of the KNMP, with its own evidence classifications.
Each recommendation records the guideline version it was drawn from, so the guidance in effect on any given date can be identified.
Source guidelines are monitored for revision, and updated content is released with a changelog recording what changed and why. Targeted updates can be released on request.
Each report links to the source citation behind every recommendation, supporting verification and audit.
Patient-specific observations are exchanged with the knowledge service in de-identified form. Demographics, direct identifiers, professional determinations, and report release remain in the laboratory environment.
PGx Toolkit calculations remain in a proposed-result state until reviewed by authorized laboratory personnel. The review record displays the original observation, canonical representation, normalization and diplotyping notes, reference versions, compatible diplotypes, identified ambiguities, assay limitations, and the basis for the proposed result.
The reviewer may approve, modify, reject, or hold the result for investigation. PGx Toolkit preserves the calculated result, professional determination, reviewer, timestamp, rationale, and supporting evidence in the audit trail. An unapproved result cannot proceed to clinical interpretation or report release.
After laboratory approval, PGx Toolkit transparently maps the approved result to applicable CPIC, DPWG, and FDA information. Reports identify the patient result, rule applied, source and version, supporting evidence, limitations, and the basis for the displayed recommendation so that healthcare professionals can independently evaluate it.
Coverage follows the gene–drug pairs with published guidance from CPIC, DPWG, and the FDA, rather than a single therapeutic area.
The PGx Toolkit normalizes results from the major pharmacogenomic platforms — bring your existing data and keep your workflow intact.
A comprehensive PGx portfolio spanning targeted PCR assays, genome-wide microarrays, and next-generation sequencing.
A specialized ecosystem of microarrays, high-throughput sequencing platforms, and informatics designed to streamline PGx workflows from sample to report.
PGx solutions centered on the proprietary MassARRAY System — MALDI-TOF mass spectrometry for high-throughput, cost-effective genetic analysis with results often within an 8-hour shift.
PGx Toolkit helps laboratories:
