Supplementary Material for: “The Biggest Struggle:” Navigating Trust and Uncertainty in Genetic Variant Interpretation

Introduction: As the utility of genomic sequencing increases, its use in healthcare will continue to expand beyond expert clinics towards non-specialist practices such as primary care. At the same time, discordance in genetic variant identification and classification between laboratories remains a concern for the field. This research assesses how clinicians with and without genetics expertise understand and trust genetic test results, underscoring how variation in the handling of genetic test results can have real impact on patient care.
Methods: We conducted 40 interviews with genetics experts, including clinical geneticists and genetic counselors, and non-expert clinicians including primary care providers and cardiologists.
Results: Clinical geneticists and genetic counselors reported spending significant time assessing the validity of results from genetic testing laboratories, conversing with laboratories about those results, and potentially reinterpreting results. Conversely, primary care providers and cardiologists without specific genetics expertise reported high levels of trust in lab accuracy and variant interpretation, and did not reassess results.
Conclusion: We find significant variation in how genetics experts and non-experts understand the trustworthiness of genetic laboratory reports. This variation could lead to differences in patient care between clinical settings and requires additional guidance for clinicians regarding the handling of genetic test results.