The Biggest Struggle: Navigating Trust and Uncertainty in Genetic Variant Interpretation
Zachary Griffen1, Dina M Asfaha2, Kellie Owens1
1Division of Medical Ethics, NYU Grossman School of Medicine, New York, New York, USA.
Public Health Genomics
|October 27, 2024
Summary
Genomic test results are understood differently by genetics experts and nonexperts, impacting patient care. Greater trust in lab accuracy by non-clinicians necessitates guidance for consistent handling of genetic information.
Area of Science:
- Genomic Medicine
- Clinical Genetics
- Healthcare Delivery
Background:
- Genomic sequencing is increasingly used in healthcare, expanding into primary care.
- Discordance in genetic variant identification and classification among laboratories is a persistent issue.
- Understanding clinician trust in genetic test results is crucial for patient care.
Purpose of the Study:
- To assess how clinicians with and without genetics expertise interpret and trust genetic test results.
- To identify variations in handling genetic test reports between expert and nonexpert clinicians.
- To underscore the impact of these variations on patient care.
Main Methods:
- Conducted 40 interviews with a mix of genetics experts (clinical geneticists, genetic counselors) and nonexpert clinicians (primary care providers, cardiologists).
Main Results:
- Genetics experts spent considerable time validating, discussing, and reinterpreting genetic test results.
- Nonexpert clinicians reported high trust in laboratory accuracy and did not re-evaluate results.
- Significant variation exists in understanding the trustworthiness of genetic laboratory reports.
Conclusions:
- Differences in how experts and nonexperts perceive genetic report trustworthiness can lead to disparities in patient care.
- Additional guidance is needed for clinicians on managing genetic test results.
- Standardizing the interpretation and application of genomic data is essential for equitable healthcare.
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