"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.

Clinical utility Genomic sequencing Health services research Hereditary cancer syndromes Patient-reported utility

Journal

Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 03 04 2023
revised: 02 08 2023
accepted: 06 08 2023
pubmed: 14 8 2023
medline: 14 8 2023
entrez: 14 8 2023
Statut: ppublish

Résumé

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

Identifiants

pubmed: 37577963
pii: S1098-3600(23)00973-5
doi: 10.1016/j.gim.2023.100960
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

100960

Investigateurs

Yvonne Bombard (Y)
Susan Randall Armel (SR)
Melyssa Aronson (M)
Nancy N Baxter (NN)
Kenneth Bond (K)
José-Mario Capo-Chichi (JM)
June C Carroll (JC)
Timothy Caulfield (T)
Marc Clausen (M)
Tammy J Clifford (TJ)
Iris Cohn (I)
Irfan Dhalla (I)
Craig C Earle (CC)
Andrea Eisen (A)
Christine Elser (C)
Michael Evans (M)
Emily Glogowski (E)
Tracy Graham (T)
Elena Greenfeld (E)
Jada G Hamilton (JG)
Wanrudee Isaranuwatchai (W)
Monika Kastner (M)
Raymond H Kim (RH)
Andreas Laupacis (A)
Jordan Lerner-Ellis (J)
Chantal F Morel (CF)
Michelle Mujoomdar (M)
Abdul Noor (A)
Kenneth Offit (K)
Seema Panchal (S)
Mark E Robson (ME)
Stephen W Scherer (SW)
Adena Scheer (A)
Kasmintan A Schrader (KA)
Terrence Sullivan (T)
Kevin E Thorpe (KE)

Informations de copyright

Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of Interest The authors declare no conflicts of interest.

Auteurs

Salma Shickh (S)

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.

Chloe Mighton (C)

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.

Marc Clausen (M)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Rita Kodida (R)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Ella Adi-Wauran (E)

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.

Daena Hirjikaka (D)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Suvetha Krishnapillai (S)

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.

Emma Reble (E)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Jordan Sam (J)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Nancy N Baxter (NN)

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.

Andreas Laupacis (A)

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.

Yvonne Bombard (Y)

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.

Classifications MeSH