Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer Journal Article


Authors: Hamilton, J. G.; Symecko, H.; Spielman, K.; Breen, K.; Mueller, R.; Catchings, A.; Trottier, M.; Salo-Mullen, E. E.; Shah, I.; Arutyunova, A.; Batson, M.; Gebert, R.; Pundock, S.; Schofield, E.; Offit, K.; Stadler, Z. K.; Cadoo, K.; Carlo, M. I.; Narayan, V.; Reiss, K. A.; Robson, M. E.; Domchek, S. M.
Article Title: Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer
Abstract: Purpose: To address demands for timely germline information to guide treatments, we evaluated experiences of patients with ovarian, pancreatic, and prostate cancer with a mainstreaming genetic testing model wherein multigene panel testing was ordered by oncologists with standardized pretest patient education, and genetic counselors delivered results and post-test genetic counseling via telephone. Methods: Among 1,203 eligible patients, we conducted a prospective single-arm study to examine patient uptake and acceptability (via self-report surveys at baseline and three weeks and three months following result return) of this mainstreaming model. Results: Only 10% of eligible patients declined participation. Among 1,054 tested participants, 10% had pathogenic variants (PV), 16% had variants of uncertain significance (VUS), and 74% had no variant identified (NV). Participants reported high initial acceptability, including high satisfaction with their testing decision. Variability over time in several outcomes existed for participants with PV or NV: those with NV experienced a temporary increase in depression (pTime < 0.001; pTime2 < 0.001), and those with PV experienced a small increase in genetic testing distress (p = 0.03). Findings suggested that result type, sex, and cancer type were also associated with outcomes including clinical depression and uncertainty. Conclusion: This mainstreaming model may offer a feasible approach for extending access to germline genetic information. © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.
Keywords: controlled study; aged; patient satisfaction; major clinical study; pancreas cancer; prospective study; ovary cancer; genetic variability; patient education; health survey; attitude to health; self report; prostate cancer; patient participation; depression; feasibility study; anxiety disorder; distress syndrome; sex difference; pathogenicity; genetic screening; genetic counseling; longitudinal study; oncologist; teleconsultation; human; male; female; article; hereditary tumor syndrome; social acceptance
Journal Title: Genetics in Medicine
Volume: 23
Issue: 11
ISSN: 1098-3600
Publisher: Nature Publishing Group  
Date Published: 2021-11-01
Start Page: 2105
End Page: 2113
Language: English
DOI: 10.1038/s41436-021-01262-2
PUBMED: 34257420
PROVIDER: scopus
PMCID: PMC8556289
DOI/URL:
Notes: Article -- Export Date: 1 December 2021 -- Source: Scopus
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  1. Kenneth Offit
    788 Offit
  2. Mark E Robson
    676 Robson
  3. Zsofia Kinga Stadler
    391 Stadler
  4. Karen Anne Cadoo
    113 Cadoo
  5. Maria Isabel Carlo
    162 Carlo
  6. Jada Gabrielle Hamilton
    111 Hamilton
  7. Elizabeth A Schofield
    161 Schofield
  8. Ibrahim Hussein Shah
    8 Shah
  9. Kelsey E Breen
    18 Breen
  10. Rebecca Gebert
    18 Gebert