Chapter 2 Background
Currently there is a lack of knowledge about the understanding of patients’ experience about genomic testing. Few studies have evaluated patients’ understanding and expectations about genomic testing. One of the pivotal articles is the study of Blanchette et al [1], they developed a survey (link to the survey) with 42 items organized into four sections: personal cancer history (4 items), general knowledge (12 items), attitudes and expectations (16 items), and demographics (10 items). Patients from a phase 1 study were invited to participate. Out of 148 patients, 98 completed the questionnaire (66%). According to the general knowledge section, 67% answered correctly; showing a knowledge gap with regards to cancer hereditability (true answer to: “hereditary [inherited within families] forms of cancer are common”) and to genomic complexity of cancer origin (true answer to: “cancers are usually caused by a change to a single gene”). They also found a significant association between knowledge and educational level. Regarding expectations, questions are not designed in a true-false way. They have several options for most of them. In brief, 76% indicated an interest in learning more about genomic testing, 66% indicated that they would consent to a needle biopsy, 70% indicated that the most important reason to undergo testing was the potential to guide treatment selection, and 64% believed that genomic testing would significantly improve cancer care. They also showed interest in knowing about incidental findings that could affect their families’ risk of developing cancer, or their risk of developing another disease (>80%). Most (91%) agreed to share their samples or results to research.
A recent systematic review found 14 studies exploring patients’ understanding of the information related to genomic testing and its implications on treatment selection [2]. There were: 10 quantitative, 3 qualitative, and one mixed study. In brief, although most patients heard about genomic testing and its importance, in several studies less than half had accurate definitions linking genomic tests with DNA mutations and their possibility to be therapeutic targets. Most of the patients wanted to be well informed, nevertheless, there were concerns about genomic incidental findings. The majority of patients preferred face-to-face verbal communication but they expressed the need for accompanying written information. The main benefit mentioned was the possibility to select the most suitable treatment. Quantitative studies had different approaches and found disparities in the amount of understanding from 80% to 40%. While they understood the implications of genomic testing to treatment selection, they did not identify potential limitations with regard to therapeutics targets.
Recently, Roth et al [3] evaluated patients’ knowledge and expectations about genomic results in the context of a Master Protocol Trial (SWOG S1400GEN). The authors used the same questionnaire developed by Blanchette et al [1]. Out of 670 patients enrolled in the master protocol, 207 (31%) accepted to be part of this study. Authors found that 82% considered that they received enough information about genomic testing. Despite most of them (87%) correctly answered that doctors were looking for genetic changes in tumor cells to help treatment selection, 60% incorrectly responded about the genomic testing was not to confirm the cancer diagnosis. The authors did not delve into the rest of the questions about patients’ expectations.
2.1 References
[1] Blanchette PS, Spreafico A, Miller FA, et al. Genomic testing in cancer: Patient knowledge, attitudes, and expectations: Genomic Testing and Cancer Knowledge. Cancer. 2014;120:3066–3073. [2] Wolyniec K, Sharp J, Lazarakis S, et al. Understanding and information needs of cancer patients regarding treatment‐focused genomic testing: A systematic review. Psychooncology. 2020;29:632–638. [3] Roth JA, Trivedi MS, Gray SW, et al. Patient Knowledge and Expectations About Return of Genomic Results in a Biomarker-Driven Master Protocol Trial (SWOG S1400GEN). JCO Oncol Pract. 2021;OP2000770.