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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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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
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author Galbraith, Lauren N.
Preys, Charlene L.
Rehm, Heidi L.
Scheuner, Maren T.
Hajek, Catherine
Green, Robert C.
Christensen, Kurt D.
author_facet Galbraith, Lauren N.
Preys, Charlene L.
Rehm, Heidi L.
Scheuner, Maren T.
Hajek, Catherine
Green, Robert C.
Christensen, Kurt D.
author_sort Galbraith, Lauren N.
collection PubMed
description 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.
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spelling pubmed-84879232021-12-10 Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance Galbraith, Lauren N. Preys, Charlene L. Rehm, Heidi L. Scheuner, Maren T. Hajek, Catherine Green, Robert C. Christensen, Kurt D. Genet Med Article 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. 2021-06-10 2021-10 /pmc/articles/PMC8487923/ /pubmed/34113000 http://dx.doi.org/10.1038/s41436-021-01225-7 Text en http://www.nature.com/authors/editorial_policies/license.html#termsUsers may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Galbraith, Lauren N.
Preys, Charlene L.
Rehm, Heidi L.
Scheuner, Maren T.
Hajek, Catherine
Green, Robert C.
Christensen, Kurt D.
Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title_full Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title_fullStr Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title_full_unstemmed Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title_short Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
title_sort primary care providers’ responses to unsolicited lynch syndrome secondary findings of varying clinical significance
topic Article
url 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
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