Integrated Patient & EHR Genomics Dashboard
Leading U.S. Healthcare Organization
Challenge
Genomic data, clinical notes, and counseling insights lived across disconnected systems, forcing genetic counselors and clinicians to toggle between portals, EHRs, spreadsheets, and static reports just to assemble a complete patient view. Test results sat outside the clinical workflow, delaying decisions and increasing the risk of missed context. The organization needed to unify clinical and genomic data, embed insights directly within the EHR, and reduce time-to-decision during patient visits.
Impact
- Centralized clinical, genomic, and counseling data into a unified, interoperable platform
- Embedded real-time genomic insights natively within the EHR workflow via SMART-on-FHIR
- Reduced context switching and improved clinician efficiency during patient encounters
- Enabled faster, more confident clinical decision-making with integrated decision support
AI-Powered Payment & Payer Workflow Dashboard
US-based Genomics & Diagnostics Laboratory
Challenge
Pre-authorizations were delaying test initiation, and payer coverage rules existed outside the core ordering workflow. Denials were recurring due to eligibility and documentation gaps, while finance lacked real-time visibility across assays and payer performance. Billing operated reactively, creating unpredictability in both care timelines and cash flow stability.
Impact
- Embedded an intelligent payer rules engine directly into lab workflows
- Reduced denials and improved first-pass claim accuracy through automated eligibility validation
- Enabled real-time financial visibility across assays, payers, and reimbursement trends
- Shifted billing from reactive processing to predictable, data-driven cashflow management
AI-Assisted Variant Interpretation & Report Generation
Leading U.S.-based Genomics Laboratory
Challenge
Variant interpretation had become the operational bottleneck. Analysts spent hours gathering evidence from multiple databases, reviewing literature, applying ACMG/AMP criteria manually, and drafting reports from scratch. Workflows were fragmented across LIS pipelines, annotation tools, spreadsheets, and static documents, making the process time-intensive, inconsistent, and difficult to scale as test volumes increased. Turnaround times stretched, reporting variability emerged, and maintaining traceability under regulatory standards required significant manual oversight. The organization needed a way to accelerate interpretation, standardize guideline adherence, and automate report drafting, without removing human review and accountability.
Impact
- Reduced turnaround time with AI-assisted evidence aggregation and ACMG-aligned scoring
- Improved consistency and traceability across variant classifications with explainable logic
- Generated structured, first-draft clinical reports to streamline analyst workflows
- Preserved human-in-the-loop review with full auditability and compliance controls
AI-Driven Family / Pedigree Risk Prediction & Cascade Screening
Leading Genetic Counseling Network
Challenge
Cascade screening after a positive genetic finding was heavily manual and difficult to scale. Counselors relied on spreadsheets, static pedigrees, and fragmented communication trails to determine which relatives were at risk and should be contacted. Risk assessment was time-consuming, outreach was inconsistent, and tracking participation across extended families was incomplete. As a result, at-risk relatives were sometimes missed, follow-ups were delayed, and preventive care opportunities were lost. The organization needed a structured way to quantify familial risk, automate personalized outreach, and track cascade testing seamlessly across systems.
Impact
- Automated relative-level risk prediction using AI-driven pedigree and inheritance modeling
- Prioritized and streamlined cascade outreach with personalized, patient-friendly communication
- Increased cascade screening participation through structured tracking and follow-ups
- Integrated risk data and outcomes back into LIS/EHR systems for continuous visibility and coordination
AI for Operational & Predictive Lab Analytics
Leading U.S.-based Genomics Laboratory
Challenge
Operational and finance leaders were managing throughput, quality, and cost with limited foresight. Forecasting relied on static dashboards and manual spreadsheets, while operational, logistics, and payer data remained fragmented across systems. Sample volumes fluctuated unpredictably, reagent planning lagged behind demand, and denial trends were identified only after claims were submitted. The result was avoidable overtime, stockouts, workflow bottlenecks, and revenue leakage. The organization needed a way to predict workloads, optimize resources, and proactively manage payer risk before issues impacted turnaround time or cash flow.
Impact
- Implemented AI-driven forecasting for sample volumes, staffing needs, reagent consumption, and TAT
- Reduced stockouts and overtime through proactive operational planning
- Introduced denial-risk prediction to flag high-risk claims before submission
- Unified lab, logistics, and financial data into a real-time command center for predictive decision-making
AI-Enabled Test Cataloguing
Leading U.S.-based Genetic Testing Laboratory
Challenge
The lab managed hundreds of assays across LIS, EHR, billing, and portal systems—each with inconsistent naming conventions, CPT/LOINC mappings, and payer rules. Test catalogues were manually maintained, frequently outdated, and disconnected from real-world ordering and denial patterns. Clinicians and genetic counselors spent valuable time searching for the right test or duplicating orders, while billing teams faced preventable denials tied to mismatched codes and evolving coverage criteria. The organization needed a way to centralize, standardize, and intelligently govern its entire test catalogue while embedding accurate, compliant selection directly into clinical workflows.
Impact
- Centralized and standardized the full genetic test catalogue into a unified, AI-governed platform
- Enabled intelligent test recommendations based on phenotype, prior results, and payer coverage
- Reduced ordering errors and denial rates through embedded coding and coverage logic
- Integrated seamlessly into EHR and counseling workflows via FHIR, eliminating manual search and context switching
Nextflow
WDL
GATK
Docker
Apptainer
GCP
Azure
Kubernetes
Terraform
AWS
Snowflake
Databricks
Amazon Athena
Apache Spark
Airflow
dbt
Interoperability
FHIR R4
Mirth Connect
Epic
Cerner
Java
Dot Net
React
Angular
