Patient experience of uncertainty in cancer genomics: a systematic review.
cancer
genomic
patient perspective
uncertainty
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:
09 2020
09 2020
Historique:
received:
11
12
2019
accepted:
27
04
2020
revised:
21
04
2020
pubmed:
20
5
2020
medline:
28
4
2021
entrez:
20
5
2020
Statut:
ppublish
Résumé
While genomics provides new clinical opportunities, its complexity generates uncertainties. This systematic review aimed to summarize what is currently known about the experience of uncertainty for adult patients undergoing cancer genomic testing. A search of five databases (2001 to 2018) yielded 6508 records. After removing duplicates, abstract/title screening, and assessment of full articles, ten studies were included for quality appraisal and data extraction. Qualitative studies were subjected to thematic analysis, and quantitative data were summarized using descriptive statistics. Cancer genomic results reduced uncertainty for patients regarding treatment decisions but did not reduce uncertainty in the risk context. Qualitative and quantitative data synthesis revealed four themes: (1) coexisting uncertainties, (2) factors influencing uncertainty, (3) outcomes of uncertainty, and (4) coping with uncertainty. Uncertainty can motivate, or be a barrier to, pursuing cancer genomic testing. Appraisal of uncertainty influences the patient experience of uncertainty, the outcome of uncertainty for patients, as well as the coping strategies utilized. While this systematic review found that appraisal of uncertainty is important to the patients' experience of uncertainty in the cancer genomic context, more mixed methods longitudinal research is needed to address the complexities that contribute to patient uncertainty across the process.
Identifiants
pubmed: 32424175
doi: 10.1038/s41436-020-0829-y
pii: S1098-3600(21)00720-6
pmc: PMC7462749
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1450-1460Références
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68:394–424.
doi: 10.3322/caac.21492
National Cancer Institute. The genetics of cancer. 2017. https://www.cancer.gov/about-cancer/causes-prevention/genetics . Accessed February 2018.
Lynce F, Isaacs C. How far do we go with genetic evaluation? Gene, panel, and tumor testing. Am Soc Clin Oncol Educ Book. 2016;36:e72–e78.
Ormond KE, Wheeler MT, Hudgins L, et al. Challenges in the clinical application of whole-genome sequencing. Lancet. 2010;375:1749–1751.
pubmed: 20434765
Robson M, Bradbury A, Arun B, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33:3660.
pubmed: 26324357
Han P, Umstead K, Bernhardt B, et al. A taxonomy of medical uncertainties in clinical genome sequencing. Genet Med. 2017;19:918–925.
pubmed: 28102863
pmcid: 5517355
Mishel M. Uncertainty in illness. J Nurs Scholarsh. 1988;20:225–232.
Mishel M. Reconceptualization of the uncertainty in illness theory. J Nurs Scholarsh. 1990;22:256–262.
Han P, Klein W, Arora N. Varieties of uncertainty in health care: a conceptual taxonomy. Med Decis Making. 2011;31:828–838.
pubmed: 22067431
pmcid: 3146626
Eisenberg S, Kurita K, Taylor-Ford M, Agus D, Gross M, Meyerowitz B. Intolerance of uncertainty, cognitive complaints, and cancer-related distress in prostate cancer survivors. Psychooncology. 2015;24:228–235.
pubmed: 24891013
Kurita K, Garon E, Stanton A, Meyerowitz B. Uncertainty and psychological adjustment in patients with lung cancer. Psychooncology. 2013;22:1396–1401.
pubmed: 22887017
Baty B, Dudley W, Musters A, Kinney A. Uncertianty in BRCA1 cancer susceptibility testing. Am J Med Genet C. 2006;142C:241–250.
Khan C, Moore E, Leos C, Rini C. Patient hopes for diagnotic genomic sequencing: roles of uncertianty and social status. Eur J Hum Genet. 2016;24:803–808.
pubmed: 26395557
Vos J, Otten W, van Asperen C, Jansen A, Menko F, Tibben A. The counsellees’ view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life. Psychooncology. 2008;17:822–830.
pubmed: 18157792
Dean M. “It’s not if I get cancer, it’s when I get cancer”: BRCA-positive patients’ (un)certain health experiences regarding hereditary breast and ovarian cancer risk. Soc Sci Med. 2016;163:21–27.
pubmed: 27376595
Dean M, Scherr CL, Clements M, Koruo R, Martinez J, Ross A. “When information is not enough”: a model for understanding BRCA-positive previvors’ information needs regarding hereditary breast and ovarian cancer risk. Patient Educ Couns. 2017;100:1738–1743.
pubmed: 28385363
Kerr A, Swallow J, Chekar CK, Cunningham-Burley S. Genomic research and the cancer clinic: uncertainty and expectations in professional accounts. New Genet Soc. 2019;38:222–239.
pubmed: 31156350
pmcid: 6519890
Moher D, Liberati A, Tetzlaff J, Altman DG. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ. 2009;339:b2535.
pubmed: 19622551
pmcid: 2714657
Tong A, Flemming K, McInnes E, Oliver S, Craig J. Enhancing transparency in reporting the synthesis of qualitative research: ENTREQ. BMC Med Res Methodol. 2012;12:181.
pubmed: 23185978
pmcid: 3552766
Green ED, Guyer MS, National Human Genome Research I, et al. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011;470:204.
pubmed: 21307933
Aromataris E, Munn Z Joanna Briggs Institute reviewer’s manual. Joanna Briggs Institute; 2017. https://reviewersmanual.joannabriggs.org/ .
Thomas J, Harden A, Oakley A, et al. Integrating qualitative research with trials in systematic reviews. BMJ. 2004;328:1010–1012.
pubmed: 15105329
pmcid: 404509
Thomas J, Harden A. Methods for the thematic synthesis of qualitative research in systematic reviews. BMC Med Res Methodol. 2008;8:45.
pubmed: 18616818
pmcid: 2478656
Braithwaite D, Sutton S, Steggles N. Intention to participate in predictive genetic testing for hereditary cancer: the role of attitude toward uncertainty. Psychol Health. 2002;17:761–772.
Solomon I, Harrington E, Hooker G, et al. Lynch syndrome limbo: patient understanding of variants of uncertain significance. J Genet Couns. 2017;26:866–877.
pubmed: 28127677
Leventhal KG, Tuong W, Peshkin BN, et al. “Is it really worth it to get tested?”: primary care patients’ impressions of predictive SNP testing for colon cancer. J Genet Couns. 2013;22:138–151.
pubmed: 22911325
Holt S, Bertelli G, Humphreys I, et al. A decision impact, decision conflict and economic assessment of routine Oncotype DX testing of 146 women with node-negative or pNImi, ER-positive breast cancer in the U.K. Br J Cancer. 2013;108:2250–2258.
pubmed: 23695023
pmcid: 3681004
Bradbury AR, Patrick-Miller LJ, Egleston BL, et al. Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet Med. 2015;18:25.
pubmed: 25834950
Levine MN, Julian JA, Bedard PL, et al. Prospective evaluation of the 21-gene recurrence score assay for breast cancer decision-making in Ontario. J Clin Oncol. 2016;34:1065–1071.
pubmed: 26598746
Lumish HS, Steinfeld H, Koval C, et al. Impact of panel gene testing for hereditary breast and ovarian cancer on patients. J Genet Couns. 2017;26:1116–1129.
pubmed: 28357778
pmcid: 7250529
Esteban I, Vilaro M, Adrover E, et al. Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain. Psychooncology. 2018;27:1530–1537.
pubmed: 29498768
Pellegrini I, Rapti M, Extra J-M, et al. Tailored chemotherapy based on tumour gene expression analysis: breast cancer patients’ misinterpretations and positive attitudes. Eur J Cancer Care. 2012;21:242–250.
Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A. Lynch syndrome patients’ views of and preferences for return of results following whole exome sequencing. J Genet Couns. 2014;23:539–551.
pubmed: 24449059
pmcid: 4451087
Cella D, Hughes C, Peterman A, et al. A brief assessment of concerns associated with genetic testing for cancer: The multidimensional impact of cancer risk assessment (MICRA) questionnaire. Health Psychol. 2002;21:564–572.
pubmed: 12433008
O’Connor AM. Validation of a decisional conflict scale. Med Decis Making. 1995;15:25–30.
pubmed: 7898294
O’Connor AM. User manual—decisional conflict scale (10 item question format). 1993. https://decisionaid.ohri.ca/docs/develop/User_Manuals/UM_Decisional_Conflict.pdf .
Slavin TP, Neuhausen SL, Nehoray B, et al. The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. Fam Cancer. 2018;17:235–245.
pubmed: 28687971
pmcid: 5758436
Claes E, Evers-Kiebooms G, Boogaerts A, Decruyenaere M, Denayer L, Legius E. Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women’s looking back on the pretest period and a psychological evaluation. Genet Test. 2004;8:13–21.
pubmed: 15140370
Claes E, Denayer L, Evers-Kiebooms G, Boogaerts A, Legius E. Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact. Patient Educ Couns. 2004;55:265–274.
pubmed: 15530764
Hallowell N, Foster C, Ardern-Jones A, Eeles R, Murday V, Watson M. Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching. Genet Test. 2002;6:79–87.
pubmed: 12215246
Lim J, Macluran M, Price M, Bennett B, Butow P. Short- and long-term impact of receiving genetic mutation results in women at increased risk for hereditary breast cancer. J Genet Couns. 2004;13:115–133.
pubmed: 15612172
d’Agincourt-Canning L. A gift or a yoke? Women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing. Clin Genet. 2006;70:462–472.
pubmed: 17100990
van Roosmalen MS, Stalmeier PF, Verhoef LC, et al. Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet A. 2004;124a:346–355.
pubmed: 14735581
Cypowyj C, Eisinger F, Huiart L, Sobol H, Morin M, Julian-Reynier C. Subjective interpretation of inconclusive BRCA1/2 cancer genetic test results and transmission of information to the relatives. Psychooncology. 2009;18:209–215.
pubmed: 19061202
Biesecker BB, Klein W, Lewis KL, et al. How do research participants perceive “uncertainty” in genome sequencing? Genet Med. 2014;16:977.
pubmed: 24875302
pmcid: 4247806
Simpkin AL, Armstrong KA. Communicating uncertainty: a narrative review and framework for future research. J Gen Intern Med. 2019;34:2586–2591.
pubmed: 31197729
pmcid: 6848305
Biesecker BB, Woolford SW, Klein WMP, et al. PUGS: a novel scale to assess perceptions of uncertainties in genome sequencing. Clin Genet. 2017;92:172–179.
pubmed: 27925165
pmcid: 5462880
Yanes T, Willis AM, Meiser B, Tucker KM, Best M. Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review. Eur J Hum Genet. 2019;27:28–35.
pubmed: 30206354
Halbert CH, Stopfer JE, McDonald J, et al. Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women’s concerns? J Clin Oncol. 2011;29:4302–4306.
pubmed: 21990416
pmcid: 3221529