. 2023 Dec;25(12):100960.

doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11.

"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

Collaborators, Affiliations

Collaborators

Incidental Genomics Study Team:
Yvonne Bombard⁶, Susan Randall Armel⁷, Melyssa Aronson⁸, Nancy N Baxter³, Kenneth Bond⁹, José-Mario Capo-Chichi¹⁰, June C Carroll¹¹, Timothy Caulfield¹², Marc Clausen², Tammy J Clifford¹³, Iris Cohn¹⁴, Irfan Dhalla¹⁵, Craig C Earle¹⁶, Andrea Eisen¹⁷, Christine Elser⁸, Michael Evans¹⁸, Emily Glogowski¹⁹, Tracy Graham²⁰, Elena Greenfeld²¹, Jada G Hamilton²², Wanrudee Isaranuwatchai⁴, Monika Kastner²³, Raymond H Kim²⁴, Andreas Laupacis⁴, Jordan Lerner-Ellis²⁵, Chantal F Morel²⁶, Michelle Mujoomdar²⁷, Abdul Noor²¹, Kenneth Offit²², Seema Panchal⁸, Mark E Robson²², Stephen W Scherer²⁸, Adena Scheer²⁹, Kasmintan A Schrader³⁰, Terrence Sullivan³¹, Kevin E Thorpe³²

Affiliations

¹ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
² Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
³ Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
⁴ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada. Electronic address: yvonne.bombard@utoronto.ca.
⁶ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁷ Princess Margaret Cancer Centre, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.
⁸ University of Toronto, Toronto, ON, Canada; Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
⁹ Institute of Health Economics, Edmonton, AB, Canada.
¹⁰ University Health Network, Toronto, ON, Canada.
¹¹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.
¹² Faculty of Law, University of Alberta, Edmonton, AB, Canada; School of Public Health, University of Alberta, Edmonton, AB, Canada; Health Law Institute, University of Alberta, Edmonton, AB, Canada.
¹³ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.
¹⁴ The Hospital for Sick Children, Toronto, ON, Canada.
¹⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Institute for Clinical Evaluative Sciences, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada.
¹⁶ Department of Medicine, University of Toronto, Toronto, ON, Canada.
¹⁷ Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
¹⁸ St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
¹⁹ Sanofi Genzyme, New York, NY.
²⁰ University of Toronto, Toronto, ON, Canada; Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
²¹ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Division of Diagnostic Medical Genetics, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.
²² Memorial Sloan Kettering Cancer Center, New York, NY.
²³ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.
²⁴ University of Toronto, Toronto, ON, Canada; Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada; The Hospital for Sick Children, Toronto, ON, Canada.
²⁵ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.
²⁶ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
²⁷ Canadian Agency for Drugs and Technologies in Health, Ottawa, ON, Canada.
²⁸ The Hospital for Sick Children, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada; Division of Diagnostic Medical Genetics, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.
²⁹ Department of Surgery, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
³⁰ BC Cancer, Vancouver, BC, Canada; The University of British Columbia, Vancouver, BC, Canada.
³¹ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
³² Applied Health Research Centre (AHRC), Li Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.

PMID: 37577963
PMCID: PMC11262616
DOI: 10.1016/j.gim.2023.100960

"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

Salma Shickh et al. Genet Med. 2023 Dec.

. 2023 Dec;25(12):100960.

doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11.

Collaborators

Incidental Genomics Study Team:
Yvonne Bombard⁶, Susan Randall Armel⁷, Melyssa Aronson⁸, Nancy N Baxter³, Kenneth Bond⁹, José-Mario Capo-Chichi¹⁰, June C Carroll¹¹, Timothy Caulfield¹², Marc Clausen², Tammy J Clifford¹³, Iris Cohn¹⁴, Irfan Dhalla¹⁵, Craig C Earle¹⁶, Andrea Eisen¹⁷, Christine Elser⁸, Michael Evans¹⁸, Emily Glogowski¹⁹, Tracy Graham²⁰, Elena Greenfeld²¹, Jada G Hamilton²², Wanrudee Isaranuwatchai⁴, Monika Kastner²³, Raymond H Kim²⁴, Andreas Laupacis⁴, Jordan Lerner-Ellis²⁵, Chantal F Morel²⁶, Michelle Mujoomdar²⁷, Abdul Noor²¹, Kenneth Offit²², Seema Panchal⁸, Mark E Robson²², Stephen W Scherer²⁸, Adena Scheer²⁹, Kasmintan A Schrader³⁰, Terrence Sullivan³¹, Kevin E Thorpe³²

Affiliations

¹ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
² Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
³ Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
⁴ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada. Electronic address: yvonne.bombard@utoronto.ca.
⁶ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁷ Princess Margaret Cancer Centre, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.
⁸ University of Toronto, Toronto, ON, Canada; Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
⁹ Institute of Health Economics, Edmonton, AB, Canada.
¹⁰ University Health Network, Toronto, ON, Canada.
¹¹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.
¹² Faculty of Law, University of Alberta, Edmonton, AB, Canada; School of Public Health, University of Alberta, Edmonton, AB, Canada; Health Law Institute, University of Alberta, Edmonton, AB, Canada.
¹³ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.
¹⁴ The Hospital for Sick Children, Toronto, ON, Canada.
¹⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Institute for Clinical Evaluative Sciences, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada.
¹⁶ Department of Medicine, University of Toronto, Toronto, ON, Canada.
¹⁷ Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
¹⁸ St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
¹⁹ Sanofi Genzyme, New York, NY.
²⁰ University of Toronto, Toronto, ON, Canada; Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
²¹ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Division of Diagnostic Medical Genetics, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.
²² Memorial Sloan Kettering Cancer Center, New York, NY.
²³ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.
²⁴ University of Toronto, Toronto, ON, Canada; Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada; The Hospital for Sick Children, Toronto, ON, Canada.
²⁵ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.
²⁶ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
²⁷ Canadian Agency for Drugs and Technologies in Health, Ottawa, ON, Canada.
²⁸ The Hospital for Sick Children, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada; Division of Diagnostic Medical Genetics, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.
²⁹ Department of Surgery, University of Toronto, Toronto, ON, Canada; St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
³⁰ BC Cancer, Vancouver, BC, Canada; The University of British Columbia, Vancouver, BC, Canada.
³¹ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
³² Applied Health Research Centre (AHRC), Li Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.

PMID: 37577963
PMCID: PMC11262616
DOI: 10.1016/j.gim.2023.100960

Abstract

Purpose: We sought to explore patient-reported utility of all types of cancer results from genomic sequencing (GS).

Methods: Qualitative study, using semi-structured interviews with patients who underwent GS within a trial. Thematic analysis employing constant comparison was used. Two coders coded transcripts, with use of a third coder to resolve conflicts.

Results: 25 patients participated: female (22), >50 years (18), European (12), Ashkenazi Jewish (5), Middle Eastern (3), or other ethnicity (5), with breast cancer history (20). Patients' perceptions of the utility of cancer GS results hinged on whether they triggered clinical action. For example, when patients were enrolled into high-risk breast cancer surveillance programs for low/moderate risk breast cancer genes, they perceived the results to be very "useful" and of moderate-high utility. In contrast, patients receiving low/moderate risk or primary variants of uncertain significance results without clinical action perceived results as "concerning," leading to harms, such as hypervigilance about cancer symptoms. Overall, having supportive relatives or providers enhanced perceptions of utility.

Conclusion: Patients' perceptions of cancer GS results hinged on whether they triggered clinical management. Consequently, patients who received results without clinical action became hypervigilant, experiencing harms. Our findings call for a need to develop practice interventions to support patients with cancer undergoing GS.

Keywords: Clinical utility; Genomic sequencing; Health services research; Hereditary cancer syndromes; Patient-reported utility.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest The authors declare no conflicts of interest.

Figures

**Figure 1. Flow chart of participants through parent trial and qualitative study.**
Two-hundred eighty participants completed the consent and baseline questionnaires. At least 260 participants completed the follow-up surveys at each time point.

**Figure 2. Patient perceptions of the utility of cancer GS results.**
PCP, primary care provider; VUS, variant of uncertain significance.

See this image and copyright information in PMC

References

1. Lindor NM, McMaster ML, Lindor CJ, Greene MH, National CancerInstitute. Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group. Concise handbook of familial cancer susceptibility syndromes. J Natl Cancer Inst Monogr. 2008:1–93. 10.1093/jncimonographs/lgn001 - DOI - PubMed
1. Idos G,ValleL.Lynch syndrome.GeneReviews.2021.
1. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–2416. 10.1001/jama.2017.7112 - DOI - PubMed
1. de Jong AE, Hendriks YM, Kleibeuker JH, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology. 2006;130(3):665–671. 10.1053/j.gastro.2005.11.032 - DOI - PubMed
1. Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22(6):1055–1062. 10.1200/JCO.2004.04.188 - DOI - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

P30 CA008748/CA/NCI NIH HHS/United States

LinkOut - more resources

Full Text Sources
- Elsevier Science
- PubMed Central
Medical
- MedlinePlus Health Information
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

Collaborators

Affiliations

"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

Figures

Similar articles

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous

Abstract

Conflict of interest statement

Figures

Similar articles

References

Publication types

MeSH terms

Related information

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous