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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.
  • Galbraith LN; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
  • Preys CL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Rehm HL; MGH Institute of Health Professions, Boston, MA, USA.
  • Scheuner MT; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Hajek C; Department of Pathology, Harvard Medical School, Boston, MA, USA.
  • Green RC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Christensen KD; San Francisco Veterans Affairs Health Care System, San Francisco, CA, USA.
Genet Med ; 23(10): 1977-1983, 2021 10.
Article en En | MEDLINE | ID: mdl-34113000
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 VUS than benign variants (72% vs. 16%, p < 0.001). PCPs were also more likely to address further workup, like a colonoscopy or esophagogastroduodenoscopy, in response to pathogenic variants or VUS 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 VUS (both p > 0.46). SF reports were prioritized highest for pathogenic variants (2.7 for pathogenic variants, 3.6 for VUS, 4.3 for benign variants, all p ≤ 0.014). CONCLUSION: Results suggest that while PCPs appreciated the differences in clinical significance, disclosure of VUS as SFs would substantially increase downstream health-care utilization.
Asunto(s)

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Colorrectales Hereditarias sin Poliposis Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans País como asunto: America do norte Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias Colorrectales Hereditarias sin Poliposis Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans País como asunto: America do norte Idioma: En Año: 2021 Tipo del documento: Article