mci nsgc25 poster.pdf

Implementation of Universal Germline Hereditary Cancer Genetic Testing for Targeted Therapy and High-Risk Screening

Authors

Elizabeth Aleman, MS, CGC, Alejandra Cantu Villarreal, MS, CGC, Emilie Simmons, MS, Moran Snir, MS, MBA, Tara Schmidlen, MS, CGC, Srika Amin, MS, CGC, Siddhartha A. Venkatappa, MD, Arelis Martir-Negron, MD
Miami Cancer Institute, Nest Genomics

Introduction

• Patients referred for germline genetic testing (GT) have traditionally been selected using guidelines based on personal and family history of cancer, age, and ancestry.
• Current guidelines may miss many people with pathogenic variants (PV) that can benefit from associated management and treatment recommendations.
• Lack of awareness of GT guidelines by referring healthcare providers also contributes to missed opportunities for patients.

4859 (80%) Completed Cancer Risk Assessment

• Miami Cancer Institute launched a pilot to evaluate the implementation and outcome of a universal germline hereditary cancer GT model integrated into a new patient intake at a hybrid community-academic cancer center.
• Effectiveness in identifying individuals with PV who may not meet GT criteria was assessed.

Methods

• Data was collected from Dec 1, 2024, to August 31, 2025.
• All new patients at the hybrid cancer center received a pre-visit link to complete a genetics questionnaire, review education, and consent to testing.
• Eligibility included adults ≥18 years old with no bone marrow transplant, no active hematologic malignancy, or prior GT after 2013.
• A genetics software platform automated the workflow, including cancer risk assessment (CRA) generation, test ordering, and result delivery.
• Patients meeting traditional criteria were informed of likely insurance coverage; others were advised of potential self-pay.
• Blood samples were collected post-visit, and testing was performed using a 76- or 90-gene panel.
• Results were integrated into the electronic medical record and disclosed via phone or platform, depending on result type.

Key Metrics:

• 6084 (79%) Activated Link
• 250 (5%) Ineligible for GT
• 4609 (95%) Eligible for GT
• 1657 (36%) Consented
• 1188 (72%) GT Ordered

Table 1: Demographics of Patients Completing Pre-Visit Questionnaire

GT Criteria Met / Not Met P/LP

Results

P/LP Results by Affected Status and GT Criteria Met / Not Met

Figure 3. Frequency of Gene Identification in Positive Patients Not Meeting GT Criteria

7740 Patients Contacted

Conclusion

• These findings highlight a significant gap in screening practices and support the need for more inclusive testing strategies to improve access to precision oncology and preventative care.
• With the right workflow, universal germline genetic testing is both feasible and effective in identifying at-risk individuals missed by guideline-based approaches.
• Purpose-built software can provide the automation and coordination necessary to implement this type of workflow at scale.
• Future study directions include addressing the gap between patients who consented and those for whom genetic testing was ultimately ordered by adding reminders for sample collection and improving data collection to minimize excluded patients.
• Further data review will help identify opportunities to optimize follow-through and strengthen the service delivery model.

References

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