Abstract
Molecular profiling (MP), which involves testing tissue, blood, or other body fluids to identify biomarkers, has become increasingly important in cancer treatment. Genomic tumor sequencing, a specific type of MP, is commonly used to identify specific gene variants or proteins that can be targeted for treatment. Germline testing is also routinely recommended for certain cancers. Low levels of genomic literacy among cancer patients, coupled with increasingly complex test results, challenge clinicians to communicate results and provide appropriate education. In addition, patients may have varying preferences for the level of information they desire and are able to process. This state-of-the-art review explores cancer patients’ expectations, attitudes, knowledge, satisfaction, and concerns as they undergo molecular profiling. A search was conducted through four databases to identify studies from 2016 to 2022 to explore cancer patients’ knowledge and preferences regarding genomic testing. Nineteen studies met the inclusion criteria. Most studies revealed that people with cancer have low levels of knowledge regarding MP, albeit with significant variability. Patients primarily desired MP to identify new treatment options and increase survival. While patients relied on their providers to interpret test results, they wanted to be informed of all results, mainly if those results might guide treatment decisions or future care planning. Most patients, especially those with low genomic/genetic knowledge, tended to overestimate the personal benefits of MP. Further study is needed to provide tailored education to fulfill patients’ information needs.
References
Adams, E. J., Asad, S., Reinbolt, R., Collier, K. A., Abdel-Rasoul, M., Gillespie, S.,...Stover, D. G. (2020). Metastatic breast cancer patient perceptions of somatic tumor genomic testing. BMC Cancer, 20(1), 389. https://doi.org/10.1186/s12885-020-06905-2
Ahmed, K., Siegel, J. J., Morgan-Linnell, S. K., & LiPira, K. (2022). Attitudes of patients with cutaneous melanoma toward prognostic testing using the 31-gene expression profile test. Cancer Medicine, 12(12), 2008–2015. https://doi.org/10.1002/cam4.5047
Barry, E. S., Merkebu, J., & Varpio, L. (2022). State-of-the-art literature review methodology: A six-step approach for knowledge synthesis. Perspectives on Medical Education, 11(5), 281–288. https://doi.org/10.1007/s40037-022-00725-9
Bartley, N., Best, M. C., Biesecker, B. B., Fisher, A., Goldstein, D., Meiser, B.,…Butow, P. (2022). Effectively communicating comprehensive tumor genomic profiling results: Mitigating uncertainty for advanced cancer patients. Patient Education and Counseling, 105(2), 452–459. https://doi.org/10.1016/j.pec.2021.05.018
Best, M., Butow, P., Jacobs, C., Juraskova, I., Savard, J., Meiser, B.,...Newson, A. J. (2020). Advanced cancer patient preferences for receiving molecular profiling results. Psycho-Oncology, 29(10), 1533–1539. https://doi.org/10.1002/pon.5446
Best, M. C., Bartley, N., Jacobs, C., Juraskova, I., Goldstein, D., Newson, A. J., Savard, J.,...Butow, P. (2019). Patient perspectives on molecular tumor profiling: “Why wouldn’t you?”. BMC Cancer, 19(1), 753. https://doi.org/10.1186/s12885-019-5920-x
Blanchette, P. S., Spreafico, A., Miller, F. A., Chan, K., Bytautas, J., Kang, S.,…Siu, L. L. (2014). Genomic testing in cancer: Patient knowledge, attitudes, and expectations. Cancer, 120(19), 3066–3073. https://doi.org/10.1002/cncr.28807
Blee, S. M., Shah, R. P., Pinheiro, A. P. M., Switchenko, J., Dixon, M., Owonikoko, T. K.,...Pentz, R. D. (2021). Physician communication and patient understanding of molecular testing terminology. The Oncologist, 26(11), 934–940. https://doi.org/10.1002/onco.13930
Bombard, Y., Rozmovits, L., Trudeau, M. E., Leighl, N. B., Deal, K., & Marshall, D. A. (2014). Patients’ perceptions of gene expression profiling in breast cancer treatment decisions. Current Oncology, 21(2), 203. https://doi.org/10.3747/co.21.1524
Bradbury, A. R., Lee, J., Gaieski, J. B., Li, S., Gareen, I. F., Flaherty, K. T.,...Wagner, L. I. (2022). A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152). Cancer, 128(7), 1381–1391. https://libproxy.clemson.edu/login?url=https://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=155693823
Braithwaite, D., Sutton, S., & Steggles, N. (2002). Intention to participate in predictive genetic testing for hereditary cancer: The role of attitude toward uncertainty. Psychology & Health, 17(6), 761–772. https://doi.org/10.1080/0887044021000054764
Cavallo, J. (2021). The evolution of liquid biopsy in cancer care. https://ascopost.com/issues/october-10-2021/the-evolution-of-liquid-biopsy-in-cancer-care/
Colomer, R., Mondejar, R., Romero-Laorden, N., Alfranca, A., Sanchez-Madrid, F., & Quintela-Fandino, M. (2020). When should we order a next generation sequencing test in a patient with cancer? EClinicalMedicine, 25, 100487. https://doi.org/10.1016/j.eclinm.2020.100487
Davies, G., Butow, P., Napier, C. E., Bartley, N., Juraskova, I., Meiser, B., Ballinger, M. L.,...Best, M. C. (2020). Advanced cancer patient knowledge of and attitudes towards tumor molecular profiling. Translational Oncology, 13(9), 100799. https://doi.org/10.1016/j.tranon.2020.100799
Freedman, R. A., Kouri, E. M., West, D. W., & Keating, N. L. (2015). Racial/ethnic disparities in knowledge about one’s breast cancer characteristics: Disparities in Breast Cancer Knowledge. Cancer, 121(5), 724–732. https://doi.org/10.1002/cncr.28977
Gray, S. W., Park, E. R., Najita, J., Martins, Y., Traeger, L., Bair, E.,...Joffe, S. (2016). Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: Results from the CanSeq study. Genetics in Medicine, 18(10), 1011–1019. https://doi.org/10.1038/gim.2015.207
Hay, J., Kaphingst, K. A., Baser, R., Li, Y., Hensley-Alford, S., & McBride, C. M. (2012). Skin cancer concerns and genetic risk information-seeking in primary care. Public Health Genomics, 15(2), 57–72. https://doi.org/10.1159/000330403
Halverson, C., Clift, K., & McCormick, J. (2016). Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine. Journal of Community Genetics, 7(2), 145–152. https://doi.org/10.1007/s12687-016-0260-x
Hamilton, J. G., Shuk, E., Genoff, M. C., Rodríguez, V. M., Hay, J. L., Offit, K., & Robson, M. E. (2017). Interest and attitudes of patients with advanced cancer with regard to secondary germline findings from tumor genomic profiling. Journal of Oncology Practice, 13(7). https://doi.org/10.1200/PO.17.00113
Hoffman, R. M., Lo, M., Clark, J. A., Albertsen, P. C., Barry, M. J., Goodman, M.,...Hamilton, A. S. (2017). Treatment decision regret among long-term survivors of localized prostate cancer: Results from the prostate cancer outcomes study. Journal of Clinical Oncology, 35(20), 2306–2314. https://doi.org/10.1200/JCO.2016.70.6317
Holmes-Rovner, M., Kroll, J., Schmitt, N., Rovner, D. R., Breer, M. L., Rothert, M. L.,...Talarczyk, G. (1996). patient satisfaction with health care decisions: The satisfaction with decision scale. Medical Decision Making, 16(1), 58–64. https://doi.org/10.1177/0272989X9601600114
Kasparian, N. A., Meiser, B., Butow, P. N., Simpson, J. M., & Mann, G. J. (2009). Genetic testing for melanoma risk: A prospective cohort study of uptake and outcomes among Australian families. Genetics in Medicine, 11(4), 265–278. https://doi.org/10.1097/GIM.0b013e3181993175
Liang, R., Meiser, B., Smith, S., Kasparian, N. A., Lewis, C. R., Chin, M.,...Kaur, R. (2017). Advanced cancer patients’ attitudes towards, and experiences with, screening for somatic mutations in tumours: A qualitative study. European Journal of Cancer Care, 26(6), e12600. https://doi.org/10.1111/ecc.12600
Marron, J. M., Cronin, A. M., DuBois, S. G., Glade-Bender, J., Kim, A., Crompton, B. D.,...Mack, J. W. (2019). Duality of purpose: Participant and parent understanding of the purpose of genomic tumor profiling research among children and young adults with solid tumors. JCO Precision Oncology, 3, 1–17. https://doi.org/10.1200/PO.18.00176
Meiser, B., Butow, P., Davies, G., Napier, C. E., Schlub, T. E., Bartley, N.,...Best, M. C. (2022). Psychological predictors of advanced cancer patients’ preferences for return of results from comprehensive tumor genomic profiling. American Journal of Medical Genetics. Part A, 188(3), 725–734. https://doi.org/10.1002/ajmg.a.62563
Pichler, T., Rohrmoser, A., Letsch, A., Westphalen, C. B., Keilholz, U., Heinemann, V.,...Goerling, U. (2021). Information, communication, and cancer patients’ trust in the physician: What challenges do we have to face in an era of precision cancer medicine? Supportive Care in Cancer, 29(4), 2171–2178. https://libproxy.clemson.edu/login?url=https://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=148804046
Raymond, V. M., Gray, S. W., Roychowdhury, S., Joffe, S., Chinnaiyan, A. M., Parsons, D. W., & Plon, S. E. (2016). Germline findings in tumor-only sequencing: Points to consider for clinicians and laboratories. Journal of the National Cancer Institute, 108(4), djv351. https://doi.org/10.1093/jnci/djv351
Relton, A., Collins, A., Guttery, D. S., Gorsia, D. N., McDermott, H. J., & Moss, E. L. (2021). Patient acceptability of circulating tumour DNA testing in endometrial cancer follow-up. European Journal of Cancer Care, 30(4). https://doi.org/10.1111/ecc.13429
Roberts, J., Gorniek, M., Le, L., Bartnik, N., Zikmund-Fisher, B., Chinnaiyan, A.,...Howery, M. (2019). Next-generation sequencing in precision oncology: Patient understanding and expectations. Cancer Medicine, 8(1), 227–237. https://doi.org/10.1002/cam4.1947
Rohrmoser, A., Pichler, T., Letsch, A., Westphalen, C. B., Keilholz, U., Heinemann, V.,...Herschbach, P. (2020). Cancer patients’ expectations when undergoing extensive molecular diagnostics—A qualitative study. Psycho-Oncology, 29(2), 423–429. https://doi.org/10.1002/pon.5282
Rosenberg, S. M., Tracy, M. S., Meyer, M. E., Sepucha, K., Gelber, S., Hirshfield-Bartek, J.,…Partridge, A. H. (2013). Perceptions, knowledge, and satisfaction with contralateral prophylactic mastectomy among young women with breast cancer: a cross-sectional survey. Annals of Internal Medicine, 159(6), 373–381. https://doi.org/10.7326/0003-4819-159-6-201309170-00003
Shirdarreh, M., Aziza, O., Pezo, R. C., Jerzak, K. J., & Warner, E. (2021). Patients’ and oncologists’ knowledge and expectations regarding tumour multigene next generation sequencing: A narrative review. The Oncologist, 26(7), e1359–e1371. https://doi.org/10.1002/onco.13783
Solomon, I. B., McGraw, S., Shen, J., Albayrak, A., Alterovitz, G., Davies, M.,...Gray, S. W. (2020). Engaging patients in precision oncology: Development and usability of a web-based patient-facing genomic sequencing report. JCO Precision Oncology, 4, 307–318. https://doi.org/10.1200/PO.19.00195
Tabor, H. K., Stock, J., Brazg, T., McMillin, M. J., Dent, K. M., Yu, J. H.,…Bamshad, M. J. (2012). Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics. Part A, 158A(6), 1310–1319. https://doi.org/10.1002/ajmg.a.35328
Thewes, B., Zachariae, R., Christensen, S., Nielsen, T., & Butow, P. (2015). The Concerns About Recurrence Questionnaire: Validation of a brief measure of fear of cancer recurrence amongst Danish and Australian breast cancer survivors. Journal of Cancer Survivorship: Research and Practice, 9(1), 68–79. https://doi.org/10.1007/s11764-014-0383-1
Wing, S. E., Hu, H., Lopez, L., Solomon, I., Shen, J., Raquel, C.,...Gray, S. W. (2021). Recall of genomic testing results among patients with cancer. The Oncologist, 26(12), e2302–e2305. https://doi.org/10.1002/onco.13928
Wolyniec, K., Sharp, J., Lazarakis, S., Mileshkin, L., & Schofield, P. (2020). Understanding and information needs of cancer patients regarding treatment-focused genomic testing: A systematic review. Psycho-Oncology, 29(4), 632–638. https://doi.org/10.1002/pon.5351
Yanes, T., Willis, A. M., Meiser, B., Tucker, K. M., & Best, M. (2019). Psychosocial and behavioral outcomes of genomic testing in cancer: A systematic review. European Journal of Human Genetics, 27(1), 28–35. https://doi.org/10.1038/s41431-018-0257-5
