For the past 30 years, precision medicine through the use of genetic testing has enabled improved diagnosis, treatment, and outcomes for cancer patients (Beaubier et al., 2019; Cobain et al., 2021; Lee et al., 2019) by uncovering somatic pathogenic variants or mutations that can be targeted through available therapies (Chung et al., 2019; Pishvaian et al., 2020). As a result, genetic tests like tumor genomic profiling (TGP) are now standard of care across many cancer types (Akhoundova and Rubin, 2022; Tjota et al., 2024).

However, accessing tests like TGP remains a challenge, with testing rates far below the current testing guidelines (Lynch et al., 2018). Though access issues are partly caused by institutional barriers, including whether the location has ongoing clinical trials and specialists who are confident in ordering, interpreting, and explaining what the test means to their patients (Anderson et al., 2021; de Moor et al., 2020; Levit et al., 2019), there is also a significant gap in which patients are offered or agree to the test. Living in a low-income household, having Medicaid insurance, and having lower educational attainment are all correlated with lower likelihood of receiving genetic testing as part of cancer care (Lynch et al., 2018; Palazzo et al., 2019; Zhang et al., 2020). But race and ethnicity are also important. Use of TGP has occurred mostly in non-Hispanic, White cancer patients (Palazzo et al., 2019; Punekar et al., 2021). Black cancer patients undergo TGP at significantly lower rates, even when controlling for sociodemographic and other factors (Lynch et al., 2018).

General barriers to uptake of TGP include worries about the test, such as cost or potential discomfort, or other psychosocial barriers, such as worries about results and potential secondary hereditary findings like susceptibility to other cancers (Hann et al., 2017; Yushak et al., 2016). Many genetic tests, including TGP, are complex, requiring physicians to be able to adequately interpret and explain results (Anderson et al., 2021; de Moor et al., 2020), but formal training in how to communicate the complexities of genetic testing results with patients often does not occur (Hall et al., 2021). As a result, physicians may be less likely to discuss TGP testing with their patients, thereby reducing opportunity for patients to understand genetics and how inheritable risk may shape their cancer treatment options (Best et al., 2019; Hall et al., 2024). This is especially problematic if the patient has low genetic literacy. Lower levels of genetic literacy are associated with health disparities and have been shown to be more prevalent in racial and ethnic minority patients (Dumenci et al., 2014; Kanu et al., 2021). Though limited research has been done on barriers to TGP in racial and ethnic minority cancer patients, genetic literacy has been suggested to be a significant barrier because interpreting TGP requires at least some knowledge of genetics (Blanchette et al., 2014; Hann et al., 2017).

Medical mistrust, which stems from a history of past and ongoing systematic injustices such as the Tuskegee Syphilis Experiment and the Henrietta Lacks incident (Hall et al., 2022; Rogers et al., 2018), is another important potential barrier to uptake of TGP. Emergent research has found a relationship between medical mistrust and negative perceptions of and likely use of TGP in Black cancer patients (Hoadley et al., 2022), as it relates to concerns about privacy, stigmatization, and discrimination based on results of genetic tests (Hann et al., 2017). Similarly, specific experiences within the healthcare system, such as race-based discrimination, have been shown to be associated with Black patients avoiding seeking care (Hall et al., 2022), which also may be important to understanding the disparity in TGP testing.

Maintaining patient autonomy in navigating genetic testing decisions and how results are used in treatment and care is important to potentially mitigate genetic literacy and medical mistrust among Black patients and increase uptake of an important diagnostic tool like TGP. To help increase self-efficacy and facilitate informed decision making around genetic testing, culturally-sensitive decision support tools (DSTs) would be important to use to improve uptake of genetic testing as part of care (Kanu et al., 2021; Muvuka et al., 2020). While current systems do exist as clinical support tools to assist in the interpretation of TGP results (Perakis et al., 2020), no DSTs aimed specifically at patients have been tested, nor any that are aimed to address barriers that may exist for Black cancer patients. DSTs, including electronic health (eHealth) tools with interactive features (e.g., video, embedded questions, voice over) are attractive because of broad access to the Internet via smart phones and other devices and their effectiveness in vulnerable patient groups (Kruse and Ehrbar, 2020). Based on the International Patient Decision Aid Standards (IPDAS) checklist, DSTs should go through a systematic development process, provide information on options, help clarify values, use patient stories, and use plain language (among others) (Elwyn et al., 2009). DSTs that follow these standards have been shown to improve decision-making outcomes by increasing knowledge, improving accuracy of risk perceptions, enhancing values clarification and reducing decisional conflict (Kruse and Ehrbar, 2020). They can also assist with communicating preferences or focusing questions to the patients’ needs.

Building on Kreps’ best practices approach to health communication (Kreps and Thornton, 1992), we used an iterative strategy to develop a theory-informed eHealth DST called Gene Pilot that involved Black cancer patients at each stage of development. We used the Ottawa Decision Support Framework (ODSF) (Stacey et al., 2020) to guide development. The ODSF recognizes that poorly informed decisions result when knowledge is low and preparation is incomplete. According to ODSF, there are several determinants of sub-optimal health decisions that may be modified by decision support, including: (1) perceptions of the decision (e.g., low knowledge, unrealistic expectations, unclear values, decisional conflict); (2) perceptions of others (e.g., biased/limited perceptions in others’ opinions/practices); and (3) personal and external resources to make the decision (e.g., limited decision making skills, personal risk perceptions) (Stacey et al., 2020). Many of these are consistent with the barriers to adequately communicate about TGP to Black cancer patients.

The primary aim of this study was to understand perceptions of TGP and barriers to uptake among Black cancer patients and integrate findings into the development of Gene Pilot. We used commercial marketing techniques, including segmentation, perceptual mapping, and vector message modeling, to pinpoint persuasive messaging and to create a tool with high salience by providing information that addresses medical mistrust, fears about genetic information sharing, and suggestions for how to discuss these issues with a doctor using the ODSF constructs. The objective was to create a tool that not only increased genetic literacy and addressed concerns of Black cancer patients related to TGP, but could increase self-efficacy, lower decisional conflict, and increase intention to have TGP as part of their cancer treatment plan. The following outlines the formative work and user testing process to create Gene Pilot.

Using a formative evaluation framework, we worked with a Community Advisory Board (CAB) throughout the process (N = 10) who provided input on everything from survey content to messaging and layout of Gene Pilot. The formative work included qualitative focus groups (five groups; N = 33) and surveys (N = 121) with Black cancer patients and then conducting segmentation analysis, perceptual mapping and vector message modeling to create a targeted message strategy. We then developed “mood boards” and concept tested them with the CAB and developed a prototype of the web-based application. We then conducted user testing (N = 10) of Gene Pilot to assess for feasibility and acceptability before finalizing (Figure 1). All research methods were approved by the Fox Chase Cancer Center Institutional Review Board. Following reviews the formative work to develop the tool and the results from the user testing that was completed.

Overall, user testing participants were 77.8% female, 44.4% had a high school education or less, and the mean age was 56 (range 22–67, SD = 7.5). Survey results showed high acceptability and satisfaction with Gene Pilot. Of the 18 items, means ranged from a high of 6.88 (videos of cancer patients and choosing questions to talk with doctor) to a low of 4.0 (belief that the tool was slanted toward convincing them to get TGP). Most items were in the 6.4–6.6 mean range, indicating participants felt all aspects of the tool were acceptable (Table 2).

Qualitative analysis for the 10 sessions was summarized for each part of the tool. Consensus for “Fly” was that it was clear, easily navigable, and provided good information. Others noted that the logo showed a person that appeared “strong and confident” and that the voiceover was appropriately paced. In responding to the animations, most participants enjoyed them and thought the images were clear, although one user felt they moved too quickly. “Now, the animations are nice, they are pleasing to the eye… And I think it’s kind of cool to have the airplane with the cloud. So, you are kind of the pilot and in the pilot seat” (Participant 6). All participants were positive about the content and felt it was easily understandable and addressed concerns. “I appreciate it, being forthcoming with what the possible risks could be, as far as information and what could be revealed and how it might impact the person and how they are feeling” (Participant 1). Another noted how positive they felt it was to see different types of people. “I thought it was cool to show different families, different settings. The slide before this one showed that they were sad. So that was kind of relatable. I think the visuals are, well, you have a very diverse group of people. There’s all different ethnicities. I think that’s pretty cool. And sex, too. And age” (Participant 4). General suggestions for improvement included making instructions larger for those who might not have experience using computers and having animations automatically play after touching or clicking a button, without having to click again on the video. There was also a suggestion to have transcripts of audio provided as a drop-down menu. All of these suggestions were incorporated into the final tool.

Feedback for Glide was also positive, with participants noting that the personas felt “relatable.” “You know what I thought was really cool about this, about James [persona who discusses worries about being discriminated against and distrust of the healthcare system]…I may not think exactly like him, but I understood where James is coming from. And I just appreciate that fact that [you] took the time to take that into consideration” (Participant 2). Another participant noted feeling that the personas covered all the important issues. They said, “You did the costs, the discrimination part, you did about you know, who gets your information. And it’s funny. I remember asking those questions” (Participant 5). Suggestions to improve this section included changing some characters in the animations to appear more open (not having folded arms), ensuring that healthcare team members were represented from a variety of ethnicities, and being explicit on how to close out a window beyond an “X” box. All suggestions were used to modify the final tool.

In the Soar section, participants felt that hearing from patients was valuable and that there is “nothing like firsthand experience.” One participant said, “So having someone that speaks like me, looks like me, you know, or someone I could see a relative resemblance or, you know, just reminds me of somebody that I trust is important” (Participant 1). Suggestions included having the option to have closed captions as well as displaying the information about the patient next to their picture so that the user did not have to click on it to get information. These were integrated into the final version.

Finally, participants felt the Navigate section of the tool was helpful in providing a baseline of questions to talk to a doctor about. It was described as “helpful,” “thorough” and “hitting the right things.” One participant said, “It’s pretty cool. And I think it has like a really positive vibe for someone dealing with a really serious topic” (Participant 2). Another noted the usefulness of the summary card, saying “I love how you did the summary card with the questions up to the sides…and then the answers to questions that you need answered” (Participant 5). Participants also liked the option to have the questions emailed. Suggestions for this section included explicit instructions on how many topics to highlight to improve understanding of how to produce the summary card and to have space at the bottom of the card to add user-generated questions that may not have been on the predetermined list. These suggestions were also integrated into the final version.

Overall, participants felt Gene Pilot provided information in an easy to access way to present information on TGP and genetic testing and included the key areas that patients would want to know about. One participant said, “TGP just sounds like an initial and then when you hear all these people that are going to be involved with you, on top of your doctors, it’s mumbo jumbo. Like you do not know what they are talking about. You do not have a clue. So yeah, this [Gene Pilot]… brings it down to like the basic person level as opposed to the science level” (Participant 4).

Development of the Gene Pilot eHealth decision support tool included iterative formative evaluation that incorporated the voices of the target audience at every stage of development. The user testing illustrated the utility of our iterative development process and formative work, with overall positive feedback about all aspects of the tool, including content, look/feel, and ability to customize it to the user’s interests. In addition, user testing indicated that it was easy to use and the use of clear communication principles, including voiceover and easy navigation, mitigated most potential problems with health or digital literacy (Lin and Bautista, 2017), a key component in the IPADS guidelines for creating eHealth tools (Elwyn et al., 2009). Importantly, all suggestions for improvement were related to navigability. No participants took issue with any content or messaging, indicating the formative work provided salient messages related to the concerns of Black cancer patients. To date, no other eHealth decision tool has been developed to address TGP in Black cancer patients, so collaborating with these patients to create this well-received tool to meet the decisional needs of the target population is a promising step toward addressing racial disparities in uptake of TGP.

Using the ODSF was an important way to ground the development of the tool. Each section of Gene Pilot addressed the core components of this framework, including providing information to increase knowledge and clarify values, provide balanced information for the patient to make an informed decision that fits with those values, and facilitate communication preferences to healthcare providers (Stacey et al., 2017). Importantly, the user testing supported that these components were welcome and favored. Participants noted that the tool not only provided information in a way they could understand but allowed them to explore different aspects of the decision that could be important to them, such as addressing medical mistrust or how results might impact them and their family. There was also enthusiasm for the section that allowed them to choose relevant topics and to generate example questions they could print or email to have with them to talk to their doctor. Clearly, using ODSF constructs was perceived of as helpful by this patient group. Recent systematic reviews of studies that have used ODSF indicated that decision tools or aids using ODSF were superior to usual care in improving decisional quality and reducing decisional needs (Hoefel et al., 2020a; Hoefel et al., 2020b; Stacey et al., 2020).

Besides using best IPADS practices and following the guidance of the ODSF, a significant innovation was the use of novel analysis methods. By using segmentation, perceptual mapping, and vector message modeling, we were able to explore how a group of demographically similar cancer patients differed in perceptions of and intention to use TGP by a psychographic variable. The role of medical mistrust and its association to feelings about genetic testing was an important finding that informed how to talk about TGP and allowed patients to feel justified in feeling mistrust. Interestingly, despite different levels of mistrust in the sample, vector message modeling results showed similar messaging strategies, indicating the need to address mistrust for all patients. User testing indicated that these message strategies were informational, appropriately worded, and highly relevant. The use of these methods is unique to the development of public health communication interventions and have been shown in other studies by the authors to be effective (Jessop et al., 2020; Ruzek et al., 2016). While user testing indicated the message strategy is promising, the next step of this research will be to test Gene Pilot in a randomized clinical trial with Black cancer patients to assess effect on decisional conflict, genetic literacy, and communication of preferences with a provider.