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Open Access 09-07-2022 | Original Article

Return of comprehensive tumour genomic profiling results to advanced cancer patients: a qualitative study

Authors: Megan C. Best, Nicci Bartley, Christine E. Napier, Alana Fisher, Mandy L. Ballinger, David M. Thomas, David Goldstein, Katherine Tucker, Barbara B. Biesecker, Phyllis Butow

Published in: Supportive Care in Cancer | Issue 10/2022

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Abstract

Purpose

The introduction of comprehensive tumour genomic profiling (CGP) into clinical oncology allows the identification of molecular therapeutic targets. However, the potential complexity of genomic results and their implications may cause confusion and distress for patients undergoing CGP. We investigated the experience of advanced cancer patients receiving CGP results in a research setting.

Methods

Semi-structured interviews with 37 advanced cancer patients were conducted within two weeks of patients receiving CGP results. Interviewees were purposively sampled based on CGP result, cancer type, age and gender to ensure diversity. Themes were derived from interview transcripts using a framework analysis approach.

Results

We identified six themes: (1) hoping against the odds; (2) managing expectations; (3) understanding is cursory; (4) communication of results is cursory; (5) genomics and incurable cancer; and (6) decisions about treatment.

Conclusion

Despite enthusiasm regarding CGP about the hope it provides for new treatments, participants experienced challenges in understanding results, and acceptance of identified treatments was not automatic. Support is needed for patients undergoing CGP to understand the implications of testing and cope with non-actionable results.
Literature
1.
go back to reference Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr, Kinzler KW (2013) Cancer Genome Landsc Sci 339:1546–1558 Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr, Kinzler KW (2013) Cancer Genome Landsc Sci 339:1546–1558
2.
go back to reference Shaw KRM, Maitra A (2019) The status and impact of clinical tumor genome sequencing. Annu Rev Genom Hum Genet 20:413–432 CrossRef Shaw KRM, Maitra A (2019) The status and impact of clinical tumor genome sequencing. Annu Rev Genom Hum Genet 20:413–432 CrossRef
3.
go back to reference Costain G, Cohn RD, Scherer SW, Marshall CR (2021) Genome sequencing as a diagnostic test. CMAJ 193:E1626–E1629CrossRef Costain G, Cohn RD, Scherer SW, Marshall CR (2021) Genome sequencing as a diagnostic test. CMAJ 193:E1626–E1629CrossRef
4.
go back to reference Borno HT, Rider JR, Gunn CM (2020) The ethics of delivering precision medicine—pretest counseling and somatic genomic testing. JAMA Oncol 6(6):815–816 Borno HT, Rider JR, Gunn CM (2020) The ethics of delivering precision medicine—pretest counseling and somatic genomic testing. JAMA Oncol 6(6):815–816
5.
go back to reference McBride CM, Guan Y, Hay JL (2019) Regarding the Yin and Yang of precision cancer-screening and treatment: are we creating a neglected majority? Int J Environ Res Public Health 16:4168CrossRef McBride CM, Guan Y, Hay JL (2019) Regarding the Yin and Yang of precision cancer-screening and treatment: are we creating a neglected majority? Int J Environ Res Public Health 16:4168CrossRef
6.
go back to reference Zikmund-Fisher BJ (2017) When “actionable” genomic sequencing results cannot be acted upon. JAMA oncology 3:891–892CrossRef Zikmund-Fisher BJ (2017) When “actionable” genomic sequencing results cannot be acted upon. JAMA oncology 3:891–892CrossRef
7.
go back to reference Adams EJ, Asad S, Reinbolt R, Collier KA, Abdel-Rasoul M, Gillespie S, Chen JL, Cherian MA, Noonan AM, Sardesai S, VanDeusen J, Wesolowski R, Williams N, Shapiro CL, Macrae ER, Pilarski R, Toland AE, Senter L, Ramaswamy B, Lee CN, Lustberg MB, Stover DG (2019) Metastatic breast cancer patient perception of somatic tumor genomic testing. BMC Cancer 20(1):1–11 Adams EJ, Asad S, Reinbolt R, Collier KA, Abdel-Rasoul M, Gillespie S, Chen JL, Cherian MA, Noonan AM, Sardesai S, VanDeusen J, Wesolowski R, Williams N, Shapiro CL, Macrae ER, Pilarski R, Toland AE, Senter L, Ramaswamy B, Lee CN, Lustberg MB, Stover DG (2019) Metastatic breast cancer patient perception of somatic tumor genomic testing. BMC Cancer 20(1):1–11
8.
go back to reference Bartley N, Best MC, Biesecker BB, Fisher A, Goldstein D, Meiser B, Thomas DM, Ballinger ML, Butow P (2021) Effectively communicating comprehensive tumor genomic profiling results: mitigating uncertainty for advanced cancer patients. Patient Educ Couns 105(2):452–459 Bartley N, Best MC, Biesecker BB, Fisher A, Goldstein D, Meiser B, Thomas DM, Ballinger ML, Butow P (2021) Effectively communicating comprehensive tumor genomic profiling results: mitigating uncertainty for advanced cancer patients. Patient Educ Couns 105(2):452–459
9.
go back to reference Butow P, Best M, Bartley N, Davies G, Schlub T, Napier C, Ballinger M, Juraskova I, Meiser B, Goldstein D, Biesecker B, Thomas D (2022) Psychological impact of comprehensive genomic profiling results to advanced cancer patients. Patient Educ Couns 105(7):2206–2216 Butow P, Best M, Bartley N, Davies G, Schlub T, Napier C, Ballinger M, Juraskova I, Meiser B, Goldstein D, Biesecker B, Thomas D (2022) Psychological impact of comprehensive genomic profiling results to advanced cancer patients. Patient Educ Couns 105(7):2206–2216
10.
go back to reference Marron JM, DuBois SG, Bender JG, Kim A, Crompton BD, Meyer SC, Janeway KA, Mack JW (2016) Patient/parent perspectives on genomic tumor profiling of pediatric solid tumors: the Individualized Cancer Therapy (iCat) experience. Pediatr Blood & Cancer 63:1974–1982CrossRef Marron JM, DuBois SG, Bender JG, Kim A, Crompton BD, Meyer SC, Janeway KA, Mack JW (2016) Patient/parent perspectives on genomic tumor profiling of pediatric solid tumors: the Individualized Cancer Therapy (iCat) experience. Pediatr Blood & Cancer 63:1974–1982CrossRef
11.
go back to reference Vadaparampil ST, Scherr CL, Cragun D, Malo TL, Pal T (2015) Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida. Clin Genet 87:473–477CrossRef Vadaparampil ST, Scherr CL, Cragun D, Malo TL, Pal T (2015) Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida. Clin Genet 87:473–477CrossRef
12.
go back to reference Thavaneswaran S, Sebastian L, Ballinger M, Best M, Hess D, Lee CK, Sjoquist KM, Hague WE, Butow PN, Simes RJ, Thomas D (2018) Cancer Molecular Screening and Therapeutics (MoST): a framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers. Med J Aust 209:354–355CrossRef Thavaneswaran S, Sebastian L, Ballinger M, Best M, Hess D, Lee CK, Sjoquist KM, Hague WE, Butow PN, Simes RJ, Thomas D (2018) Cancer Molecular Screening and Therapeutics (MoST): a framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers. Med J Aust 209:354–355CrossRef
13.
go back to reference Best M, Newson AJ, Meiser B, Juraskova I, Goldstein D, Tucker K, Ballinger ML, Hess D, Schlub TE, Biesecker B, Vines R, Vines K, Thomas D, Young M-A, Savard J, Jacobs C, Butow P (2018) The PiGeOn project: protocol for a longitudinal study examining psychosocial, behavioural and ethical issues and outcomes in cancer tumour genomic profiling. BMC Cancer 18:389CrossRef Best M, Newson AJ, Meiser B, Juraskova I, Goldstein D, Tucker K, Ballinger ML, Hess D, Schlub TE, Biesecker B, Vines R, Vines K, Thomas D, Young M-A, Savard J, Jacobs C, Butow P (2018) The PiGeOn project: protocol for a longitudinal study examining psychosocial, behavioural and ethical issues and outcomes in cancer tumour genomic profiling. BMC Cancer 18:389CrossRef
14.
go back to reference Fusch PI, Ness LR (2015) Are we there yet? Data saturation in qualitative research. The Qual Report 20(9):1408 Fusch PI, Ness LR (2015) Are we there yet? Data saturation in qualitative research. The Qual Report 20(9):1408
15.
go back to reference Gale NK, Heath G, Cameron E, Rashid S, Redwood S (2013) Using the framework method for the analysis of qualitative data in multi-disciplinary health research. BMC Med Res Methodol 13:1–8CrossRef Gale NK, Heath G, Cameron E, Rashid S, Redwood S (2013) Using the framework method for the analysis of qualitative data in multi-disciplinary health research. BMC Med Res Methodol 13:1–8CrossRef
16.
go back to reference Berger R (2015) Now I see it, now I don’t: researcher’s position and reflexivity in qualitative research. Qual Res 15:219–234CrossRef Berger R (2015) Now I see it, now I don’t: researcher’s position and reflexivity in qualitative research. Qual Res 15:219–234CrossRef
17.
go back to reference Best MC, Bartley N, Jacobs C, Juraskova I, Goldstein D, Newson AJ, Savard J, Meiser B, Ballinger M, Napier C, Thomas D, Biesecker B, Butow P, Tucker K, Schlub T, Vines R, Vines K, Kirk J, Young M-A, Project MotP (2019) Patient perspectives on molecular tumor profiling: “Why wouldn’t you?” BMC Cancer 19:753CrossRef Best MC, Bartley N, Jacobs C, Juraskova I, Goldstein D, Newson AJ, Savard J, Meiser B, Ballinger M, Napier C, Thomas D, Biesecker B, Butow P, Tucker K, Schlub T, Vines R, Vines K, Kirk J, Young M-A, Project MotP (2019) Patient perspectives on molecular tumor profiling: “Why wouldn’t you?” BMC Cancer 19:753CrossRef
18.
go back to reference Roberts JS, Robinson JO, Diamond PM, Bharadwaj A, Christensen KD, Lee KB, Green RC, McGuire AL (2018) Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med 20:1069–1076CrossRef Roberts JS, Robinson JO, Diamond PM, Bharadwaj A, Christensen KD, Lee KB, Green RC, McGuire AL (2018) Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med 20:1069–1076CrossRef
19.
go back to reference Williams JL, Rahm AK, Zallen DT, Stuckey H, Fultz K, Fan AL, Bonhag M, Feldman L, Segal MM, Williams MS (2018) Impact of a patient-facing enhanced genomic results report to improve understanding, engagement, and communication. J Genet Couns 27:358–369CrossRef Williams JL, Rahm AK, Zallen DT, Stuckey H, Fultz K, Fan AL, Bonhag M, Feldman L, Segal MM, Williams MS (2018) Impact of a patient-facing enhanced genomic results report to improve understanding, engagement, and communication. J Genet Couns 27:358–369CrossRef
20.
go back to reference Freedman AN, Klabunde CN, Wiant K, Enewold L, Gray SW, Filipski KK, Keating NL, Leonard DG, Lively T, McNeel TS (2018) Use of next-generation sequencing tests to guide cancer treatment: results from a nationally representative survey of oncologists in the United States JCO Precision. Oncology 2:1–13 Freedman AN, Klabunde CN, Wiant K, Enewold L, Gray SW, Filipski KK, Keating NL, Leonard DG, Lively T, McNeel TS (2018) Use of next-generation sequencing tests to guide cancer treatment: results from a nationally representative survey of oncologists in the United States JCO Precision. Oncology 2:1–13
21.
go back to reference Ha VTD, Frizzo-Barker J, Chow-White P (2018) Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care. BMC Med Genomics 11:18CrossRef Ha VTD, Frizzo-Barker J, Chow-White P (2018) Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care. BMC Med Genomics 11:18CrossRef
22.
go back to reference Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS (2019) Germline genetic testing in advanced prostate cancer; practices and barriers: survey results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium. Clin Genitourin Cancer 17:275–282 (e271)CrossRef Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS (2019) Germline genetic testing in advanced prostate cancer; practices and barriers: survey results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium. Clin Genitourin Cancer 17:275–282 (e271)CrossRef
23.
go back to reference Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O’Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K (2017) Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing mutation detection in patients with advanced cancer mutation detection in patients with advanced cancer. JAMA 318:825–835CrossRef Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O’Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K (2017) Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing mutation detection in patients with advanced cancer mutation detection in patients with advanced cancer. JAMA 318:825–835CrossRef
24.
go back to reference Malone ER, Oliva M, Sabatini PJ, Stockley TL, Siu LL (2020) Molecular profiling for precision cancer therapies. Genome Med 12:1–19CrossRef Malone ER, Oliva M, Sabatini PJ, Stockley TL, Siu LL (2020) Molecular profiling for precision cancer therapies. Genome Med 12:1–19CrossRef
25.
go back to reference Tzieropoulos H, De Grave Peralta R, Bossaerts P, Gonzalez Andino SL (2011) The impact of disappointment in decision making: inter-individual differences and electrical neuroimaging. Front Hum Neurosci 4:235 CrossRef Tzieropoulos H, De Grave Peralta R, Bossaerts P, Gonzalez Andino SL (2011) The impact of disappointment in decision making: inter-individual differences and electrical neuroimaging. Front Hum Neurosci 4:235 CrossRef
26.
go back to reference Fujimori M, Shirai Y, Asai M, Kubota K, Katsumata N, Uchitomi Y (2014) Effect of communication skills training program for oncologists based on patient preferences for communication when receiving bad news: a randomized controlled trial. J Clin Oncol 32(20):2166–2172 Fujimori M, Shirai Y, Asai M, Kubota K, Katsumata N, Uchitomi Y (2014) Effect of communication skills training program for oncologists based on patient preferences for communication when receiving bad news: a randomized controlled trial. J Clin Oncol 32(20):2166–2172
Metadata
Title
Return of comprehensive tumour genomic profiling results to advanced cancer patients: a qualitative study
Authors
Megan C. Best
Nicci Bartley
Christine E. Napier
Alana Fisher
Mandy L. Ballinger
David M. Thomas
David Goldstein
Katherine Tucker
Barbara B. Biesecker
Phyllis Butow
Publication date
09-07-2022
Publisher
Springer Berlin Heidelberg
Published in
Supportive Care in Cancer / Issue 10/2022
Print ISSN: 0941-4355
Electronic ISSN: 1433-7339
DOI
https://doi.org/10.1007/s00520-022-07272-3

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