Education and Events

This session pulls back the curtain on modern genetic testing laboratories, mapping out the lifecycle of a sample from initial accessioning to complex variant classification and reporting. Panelists will demystify the operational, regulatory, and business constraints that shape lab policies, explaining the root causes behind turnaround times and reporting limitations. By addressing the perspective gap between clinic and laboratory, attendees will learn practical strategies to troubleshoot common delays and collaborate effectively with lab genetic counselors for better patient care.

Presented by:

NSGC Lab/Industry SIG
1. Matt Tschirgi, MS, CGC
2. Elizabeth Kramer Dugan, MGC, CGC
3. Elysia Pagano, MGC, CGC

Learning Objectives:

1. Evaluate the operational, business, and cross-functional drivers behind genetic testing laboratory decisions, business metrics, and turnaround times.
2. Trace the journey of a sample through accessioning, triage, automation, and reporting.
3. Identify factors that impact testing capacity and workflow limitations.
4. Analyze the root causes of discrepancy between clinical expectations and lab capabilities, including requisition requirements, variant classification constraints, and reporting policies.
5. Apply practical communication strategies and best practices—such as providing detailed phenotype data and engaging effectively with lab genetic counselors—to streamline case management and optimize patient outcomes.