"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
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
100960Investigateurs
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.