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Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance

PURPOSE: How primary care providers (PCPs) respond to genomic secondary findings (SFs) of varying clinical significance (pathogenic, uncertain significance (VUS), or benign) is unknown. METHODS: We randomized 148 American Academy of Family Physicians members to review three reports with varying sign...

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Detalles Bibliográficos
Autores principales: Galbraith, Lauren N., Preys, Charlene L., Rehm, Heidi L., Scheuner, Maren T., Hajek, Catherine, Green, Robert C., Christensen, Kurt D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487923/
https://www.ncbi.nlm.nih.gov/pubmed/34113000
http://dx.doi.org/10.1038/s41436-021-01225-7
Descripción
Sumario:PURPOSE: How primary care providers (PCPs) respond to genomic secondary findings (SFs) of varying clinical significance (pathogenic, uncertain significance (VUS), or benign) is unknown. METHODS: We randomized 148 American Academy of Family Physicians members to review three reports with varying significance for Lynch syndrome. Participants provided open-ended responses about the follow-up they would address and organized the SF reports and five other topics in the order they would prioritize responding to them (1=highest priority, 6=lowest priority). RESULTS: PCPs suggested referrals more often for pathogenic variants or VUSs than benign variants (72% vs 16%, p<0.001). PCPs were also more likely to address further workup, like a colonoscopy or EGD, in response to pathogenic variants or VUSs than benign variants (43% vs 4%, p<0.001). The likelihoods of addressing referrals or further workup were similar when PCPs reviewed pathogenic variants and VUSs (both p>0.46). SF reports were prioritized highest for pathogenic variants (2.7 for pathogenic variants, 3.6 for VUSs, 4.3 for benign variants, all p≤0.014). CONCLUSIONS: Results suggest that while PCPs appreciated the differences in clinical significance, disclosure of VUSs as SFs would substantially increase downstream health care utilization.