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Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing
Zoë P Mackay1, Dmitry Dukhovny2, Kathryn A Phillips3
1Boston University School of Medicine, Boston, MA, USA.
Summary
A new risk-based strategy efficiently quantifies healthcare use after genomic testing. This method accurately identifies services related to genomic findings, improving assessment of intervention impacts.
Area of Science:
- Genomics
- Healthcare Services Research
- Medical Informatics
Background:
- Genomic testing presents unique challenges in tracking downstream healthcare utilization due to its novelty and complex, often unexpected, results.
- Understanding the impact of genomic interventions on patient care is crucial for effective implementation and resource allocation.
Purpose of the Study:
- To test a novel strategy for quantifying healthcare utilization following genomic testing.
- To evaluate the effectiveness of different data collection methods for assessing downstream medical services.
Main Methods:
- Developed a risk-based approach for newborn genomic sequencing trials, defining primary and secondary conditions.
- Created patient-specific service lists for managing identified conditions.
- Quantified services using medical record reviews, surveys, and parent check-ins.
Main Results:
- Reduced service analysis by over 90% by focusing on short-term impacts of genomic testing.
- Identified services associated with unexpected findings comparable to expert review.
- Found that surveys and check-ins alone missed most attributable healthcare services.
Conclusions:
- The risk-based strategy offers an improved method for assessing the short-term impact of genomic testing on healthcare utilization.
- This approach aligns with best-practice recommendations for intervention assessment.
