About the Client
TeleRare Health is building a new specialized care platform focused on patients with rare diseases, prepared to bridge the structural gap in healthcare delivery. The platform operates as a white-label, virtual genetics department for partner healthcare systems. Through this model, TeleRare enables providers to extend access to genetic medicine by offering licensed genetic counselors and clinical geneticists, supported by purpose-built clinical workflows and a technology platform designed specifically for genetic care.
Business Situation
Although more than 10,000 rare diseases are known today, most physicians receive training on only a small subset of them. As a result, patients often spend years navigating fragmented care pathways, repeatedly explaining their condition to different providers.
Rare disease intake adds another layer of complexity. Long before a patient meets a genetic counselor or clinical geneticist, extensive preparation work takes place behind the scenes. This work is largely manual, repetitive, and difficult to scale.
Medical assistants and clinicians typically spend close to an hour per patient compiling medical histories, gathering records from multiple systems, printing pedigrees, and resolving missing information. These activities occurred before the clinical visit and did not scale with increasing patient volume. Consequently, new patients often waited two to three months for an initial appointment, while managing multiple portals, forms, calls, and follow-ups.
Existing health record systems effectively support billing and core operations, but genetics-specific workflows, longitudinal family histories, and rare disease narratives remain poorly supported. Phase one of the project focused on integrating with multiple healthcare systems while preserving existing billing and record workflows. The primary objective was to remove intake and pre-test evaluation bottlenecks without disrupting established clinical operations.
The client outlined the following key requirements:
Design and develop the entire platform from the ground up, beginning with a focused minimum viable product
Automate more than 80% of the pre-test intake and evaluation workflow to reduce manual effort
Introduce AI-driven patient intake while maintaining clinical trust, accuracy, and regulatory compliance
Enable deep integration with health information exchanges (HIEs) and partner record systems using FHIR standards
Ensure full compliance, audit readiness, and data traceability from day one
Deliver the first phase within a strict, fixed timeline, with future phases already planned
The Solution
We envisioned TeleRare Health to serve as the foundation for a multi-phase clinical platform. From the beginning, every design decision focused on removing any friction before patient encounters. Phase 1 intentionally avoided replacing existing clinical record systems and instead targeted all activities that occur before a clinician reviews a patient’s chart, including intake, history collection, summarization, and visit preparation.
By improving these pre-visit workflows, TeleRare can reduce operational risk for partner organizations. This approach enabled smooth integration with existing systems and ensured faster adoption without disrupting established clinical or billing processes.
A Simplified Patient Onboarding Flow
The patient journey begins with a secure access link shared through SMS or email. Passwordless authentication was implemented to remove login friction while maintaining strong identity safeguards. Patients complete e-consent forms, provide demographic details, and enter required identifiers to enable the discovery of their records and the authorized use of their data.
Patients complete their e-Consent forms, demographics, and required identifiers to locate their records and authorize data use and secondary purposes. The platform stores all data as FHIR Patient and Consent resources in Azure Health Data Services (AHDS), ensuring interoperability. This design choice proved critical: a two-minute onboarding flow significantly increased completion rates and reduced support overhead.
AI-Based Pre-Visit Interviews
We chose an AI voice agent for TeleRare and integrated Retell AI to conduct structured intake calls that feel conversational rather than interrogative. The design allows patients to make multiple AI calls whenever they need breaks, with each call generating a transcript and a call summary. The AI calls rely on the Comprehensive Patient Overview and retry logic, while alerting mechanisms prevent silent failures.
On the backend, Retell webhooks send transcripts to Azure Functions, where the system stores them as FHIR resources and links each interaction to a clinical encounter. When a call fails after all retries, the platform automatically alerts Medical Assistants through Microsoft Teams. After the system creates a patient record, it triggers a Metriport HIE pull via Azure Logic Apps. Metriport then aggregates basic demographics, diagnoses, encounter history, and relevant clinical records.
Drafting Clinical Notes With LLMs
Once intake calls were completed, the system unified structured HIE data, AI-generated call transcripts, and encounter metadata into a single clinical context. This consolidated input was then routed through a custom prompt pipeline built on Azure OpenAI. The resulting output included a high-level clinical note, CPT codes to support billing context, and MDM justification detailing how clinical conclusions were derived.
Transparency was a deliberate design choice. Clinicians had full visibility into the original transcript, the AI-generated clinical note, and the underlying reasoning that informed it. At this stage, TeleRare clinicians could copy and paste the drafted note directly into the partner EHR, preserving existing billing workflows while significantly reducing visit preparation time.
Clinician And MA Portals: Role-Aware By Default
We built a unified platform with role-based experiences dynamically governed by Entra ID claims. Patients were restricted to viewing their onboarding workflows and AI call transcripts, while medical assistants had access to intake status and demographic data. Genetic Counselors and Clinical Geneticists could access the complete clinical packet, including the clinical summary, transcript, and Metriport data. This role-based separation minimized risk, simplified compliance audits, and aligned system access with real clinical responsibilities.
The Impact
Phase 1 delivered measurable results within weeks of launch. Clinicians began visits with complete patient histories prepared, and wait times were reduced without adding staff. More importantly, the platform reshaped how genetics teams spent their time, allowing them to focus on clinical decision-making instead of administrative tasks.
With Phase 1 in production, the platform is now positioned to support the following initiatives:
- Automate genetic test ordering
- Enable in-platform charting and billing.
- Launch a national network of rare disease experts.
The roadmap includes automated pedigree generation, one-click submissions to laboratories, and expanded documentation and billing capabilities, with seamless integration into existing EHRs. This foundation supports future growth without requiring healthcare organizations to change how they operate overnight.
80%
Pre-Test Encounters Completed Within 15 Minutes
95%
Intakes Handled By AI Agents, Reducing Manual Workload
95%
Referred Patients Completed Onboarding Without Support
