Breaking barriers to completing genetic testing for inherited breast cancer among at-risk Black women using a community-based participatory research approach.

Introduction
National guidelines from the US Preventive Services Task Force and the National Comprehensive Cancer Network (NCCN) recommend the use of family-health-history (FHH)-based risk assessment tools to guide genetic testing (GT) among women with an increased risk of inherited cancer and inform personalized cancer risk management strategies, including enhanced surveillance, targeted therapies, and risk-reducing interventions.1,2,3,4,5 Routine screening for FHH of cancer is an accessible, cost-effective, and practical strategy for accurate risk assessment and timely identification of individuals eligible for GT, especially when supported by clinical decision support tools.6,7 Despite recommendations, implementation of systematic FHH screening and subsequent GT remains inconsistent due to workflow, provider, and system-level barriers.8,9 Innovative implementation strategies are needed to address care gaps and effectively integrate these tools into routine clinical workflows.
In 2018, Endeavor Health introduced an electronic health record (EHR)-integrated FHH screening tool called the Genetic and Wellness Assessment (GWA).10 Building upon the GWA, the Breast Health Assessment (BHA) was launched in 2021 to primarily assess for an individual’s risk for hereditary breast and ovarian cancer syndrome based on the NCCN guidelines4 and offer GT at the time of routine screening mammogram. Prior work has shown that integrating genetic screening into routine mammography visits can identify high-risk individuals who might otherwise remain undetected, creating new opportunities to reduce morbidity and mortality through evidence-based and tailored cancer risk management.11 Similarly, the BHA was designed and implemented to streamline risk identification and increase patient access to guideline-recommended GT for women at increased risk of inherited breast cancer (IBC).
Despite the promise of population genetic screening, disparities persist in the utilization of GT services. Research consistently demonstrates that Black women are less likely to complete GT, limiting access to personalized care and potentially widening ongoing inequities in breast cancer outcomes.1,12,13,14,15 Although known barriers to GT in this population include lack of knowledge, decreased access, cost, cultural beliefs, mistrust in health system, and genetic data privacy concerns,16,17,18,19,20 prior studies have largely focused on attitudes toward and decisions about initial uptake of GT. Little is known about the factors that impact the subsequent completion of GT after at-risk Black patients have given consent for GT.
Preliminary data from the BHA revealed disproportionately low rates of GT completion, defined as failure to provide a saliva sample after providing prior electronic consent via the BHA, among Black women who screened high-risk for IBC. This observation suggested a critical but underexplored gap within the BHA clinical workflow. Individuals who agree to GT but do not complete it represent a distinct and actionable population, as barriers at this stage are more likely to reflect modifiable logistical, communication, or system-level factors rather than lack of interest or attitudinal resistance. This group is often invisible in implementation research, yet they represent a meaningful source of downstream inequity when system-level barriers prevent follow-through after initial engagement. Understanding these barriers is critical for increasing follow-through to complete GT and ensuring that population-based genetic screening programs deliver equitable benefits.21
To address this gap, we conducted a qualitative study using a community-based participatory research (CBPR) approach to examine the experiences of Black women identified as high-risk through the BHA, who provided electronic consent to guideline-recommended GT but did not complete sample collection at the time of their annual screening mammogram. Our objective was to identify barriers and facilitators specific to this stage of the care pathway and co-develop actionable steps to improve equitable GT uptake within the BHA clinical workflow at our community health system.

Subjects, materials, and methods
Engaging historically and currently underrepresented communities in genomics research requires approaches that are committed to bi-directional learning and shared decision-making.22,23 Community engagement provides a way in which both researchers and community members can actively and equitably partake in the research process.22,23 In this study, we employed a CBPR approach, which promotes collaboration among all stakeholders in the development and implementation of research.24 Examples of how CBPR principles were applied in the study are described in Table 1.25

Establishment of CBPR and research team partnership
At project inception, a member of the research team had an established relationship with a trusted community advocate actively engaged in cancer prevention and GT outreach within the Black community. This individual was invited to serve as the community lead for the CBPR partnership and helped in recruiting seven additional members to participate as CBPR team members through relationship built from past community and advocacy events. These eight individuals formed the CBPR team and guided all phases of the study, contributing their lived experiences as Black women with personal and/or family histories of cancer.
CBPR team engagement included a series of collaborative meetings focused on relationship building, mutual education, and study co-design. All members were trained in study methods and helped create recruitment materials, refine interview questions, inform IRB planning, co-interpret interview findings, and contribute to dissemination planning. Their lived experiences ensured that research translation was culturally sensitive, inclusive, and grounded in their community’s priorities. To encourage meaningful engagement, CBPR team members were provided accommodations, such as evening meetings, and they received compensation for their time.

BHA workflow
The BHA is sent via NorthShoreConnect (NSC), our secure patient messaging portal, to all patients with a scheduled screening mammogram to complete before their appointment. Patients who screen positive on the BHA, thereby meeting NCCN criteria for germline GT, are offered to complete GT with a comprehensive hereditary cancer panel, which is typically covered by insurance or through a financial assistance program for patients who meet criteria. After electronic patient consent is provided, oral saliva sample self-collection is offered during the patient’s mammogram appointment (Figure 1).

Participant identification and recruitment
From August 2021 to December 2023, 38,895 patients completed the BHA via NSC. Of these, 9,797 (25.19%) screened positive, or were identified as having a high-risk personal or family history for IBC based on the NCCN guidelines, and were recommended and offered a comprehensive hereditary cancer panel for GT. Among those who completed the BHA, 1,974 (5.08%) were documented as Black or African American in the EHR, of whom 548 (27.76%) screened positive. While 160 (29.20%) of these at-risk Black women consented to GT, 68 (42.50%) did not proceed with testing. This preliminary review revealed a low GT completion rate among consented Black patients and was a key factor that motivated our research.
Eligible participants included self-identified Black women who screened high-risk for IBC on the BHA and consented to GT but never followed through with sample collection at their screening mammogram appointment. At the time of recruitment, we identified 81 potential participants through a combination of data extraction from the EHR and manual chart review as not having completed GT by submitting a saliva sample. Across multiple meetings, the research and CBPR teams collaboratively reviewed recruitment materials and procedures, with CBPR members providing input on participant outreach and recontact methods. CBPR members directly edited materials to ensure language was clear, culturally appropriate, and acceptable to participants.
Co-developed messages detailing the study purpose, eligibility criteria, and instructions for scheduling an interview were sent to all potential participants via NSC (Figure 2). Patients were asked to contact the study coordinator if interested in participating in the study and were scheduled to complete a one-time qualitative interview via Webex,26 a HIPAA-compliant videoconferencing platform. Prior to the scheduled interview, participants received an NSC reminder message containing call-in information and the informed consent document. Audio-recorded interviews were conducted after obtaining informed verbal consent from participants, and those who opted to use video were also video-recorded. This study was approved by the Institutional Review Board at Endeavor Health (IRB no. STUDY00000094; approved November 14, 2024).

Data collection and procedures
Semi-structured interviews took place via Webex from January to March 2025. All interviews were conducted by the first and second authors (S.H. Choi and S. Ramesh) and lasted between 35 and 50 min. The interview guide was informed by and co-developed with our CBPR team. A collaborative process was used to develop the interview guide, with CBPR members suggesting question phrasing and probes to promote meaningful discussion.
Participants were asked open-ended questions about their reasons for completing the BHA, consenting to GT, and barriers to providing a sample at their mammogram appointment. Perceived community and cultural norms were also explored to assess whether others’ views influenced their attitudes or decisions toward GT (supplemental information, S1). Demographic data were collected at the end of the interview to characterize the study sample. The interviews were audio-recorded, transcribed, and de-identified prior to analysis. Participants received a $50 Visa gift card in compensation for their time.

Data analysis
The audio-recorded, qualitative interviews were professionally transcribed for thematic content analysis.27 An a priori codebook was created based on interview questions that were guided by domains from the Integrated Model of Behavioral Prediction (perceived knowledge, attitudes, norms, self-efficacy, and salience of behavior).28 The first two authors (S.H.C. and S. Ramesh) re-familiarized themselves with a subset of the data, using a priori codes for deductive coding and memoing to generate inductive codes. After testing the initial codebook and establishing high intercoder reliability (Krippendorff’s α = 0.8),29 S.H.C. and S. Ramesh independently coded the remaining interviews in small batches, meeting after each round to discuss new codes and refine the codebook using a consensus-based approach. S. Ramesh exported quotes grouped by code frequency and narratively summarized what participants said about each code and code family. Analysts and the research team discussed preliminary findings, which were then shared with the CBPR team in order to finalize themes and make recommendations. This process involved multiple meetings in which CBPR members reviewed emerging themes and exemplary quotes and provided feedback on their relevance, cultural context, and resonance with lived experiences. Community participation in data analysis informed actionable solutions, which was an intentional CBPR team-driven step, to break down GT barriers among Black women with increased risk for IBC within the BHA workflow. A community report of study findings was co-developed with the CBPR team and was disseminated to participants who expressed interest in receiving study results (supplemental information, S2).

Results

Participant characteristics
Among the potential participants (N = 81) recruited for the study, 12 individuals consented to participate in an interview. All were self-identified Black women who initially provided electronic consent to the recommended GT via the BHA but did not complete saliva sample collection at their screening mammogram appointment. The majority of participants were 45 years or older, had completed at least some college education, had biological children, and worked full time (Table 2).

Interview themes
Three overarching themes were identified, each with three subthemes that captured motivations for GT, barriers and facilitators to completing BHA-recommended GT among at-risk Black women (Table 3), and participant-suggested recommendations for improving GT completion among Black women and the broader African American community both within and beyond the BHA (Table 4).

Participants held positive attitudes and motivations to complete GT

Recognition of GT and its clinical value
Most participants were aware of the clinical benefits of GT for inherited cancer risk before they were recommended through the BHA. Mass media was frequently referenced as an information source: “I’ve heard about it like on TV, or you hear about a lot of stories where women got the genetic testing and found out that they could be susceptible to all kinds of other cancers or all kinds of other issues” (P02, chose not to submit a sample). Others knew family members and friends who had completed GT after cancer diagnosis: “I’ve had friends impacted by cancer and … like their family and friends doing [genetic testing] after they’ve been diagnosed” (P05, sample failure). Despite having a general understanding of its clinical value, participants had never received a GT recommendation until the BHA, including those with a strong family history of cancer. One participant indicated regret for not having received information about its personal utility sooner: “Nobody ever told me how beneficial it could be before now, before this conversation, before I was flagged … Had I known, I probably would’ve done it sooner” (P08, never received kit).

Desire to complete GT for themselves and their family
Participants expressed strong instrumental attitudes that influenced their GT consent decision, such as a desire for health information for themselves and their families. GT was frequently viewed as providing much deeper insights into breast health than routine clinical exams such as mammograms: “Mammogram is what’s here in my breast right now, whereas that genetic is down the line, it could be a preventive measure” (P01, chose not to submit a sample). Furthermore, GT provided participants with an opportunity to be proactive about their health rather than reactive: “It’s an information tool that we can all benefit from so that we can put some precautionary things in place” (P10, never received kit). Several emphasized the importance of completing GT to protect future generations: “It helps my family. I can tell my daughters … granddaughters … grandsons down the line that, okay, this is what they kind of figured out’s going on in our family line” (P02, chose not to submit a sample). One participant even acknowledged its clinical utility for patients without a strong family history: “You could be the first of that family. So, I think it should be something that should be a standard of care as prevention for everyone, regardless of family history” (P06, never received kit).

Minimal privacy and confidentiality concerns
Participants frequently acknowledged cultural barriers to GT in the Black community, including mistrust of the medical system rooted in historical injustices: “Unfortunately, the African American community is not very trusting of the health systems because of the history of doing things on people without permission” (P06, never received kit). Another participant discussed how medical distrust contributes to skepticism and disbelief in the value of GT: “There are lots of barriers attached to anything genetics” (P10, never received kit). However, it is crucial to note that participants did not perceive these sociocultural beliefs as personal barriers and expressed minimal to no concerns that would negatively impact or change their decision to complete GT. As one explicitly stated: “Well, I already know that HIPAA exists … so I don’t have any fears of confidentiality” (P09, sample failure). Informed decision-making was also facilitated by trust in the health system and providers: “I just feel confident about it because I know that so many times when I have had tests and went to the doctor … they stressed privacy and confidentiality. So, I feel comfortable” (P07, chose not to submit a sample). Participants were not worried about the testing laboratory nor sample mishandling: “I do trust my healthcare system, so I was hoping that if it was something that they were working with, then I would be okay” (P05, sample failure).

BHA logistical issues primarily contributed to GT incompletion

Gaps in BHA clinical workflow
Despite consenting to GT, half of our participants (n = 6) were never given a saliva sample collection kit upon arrival. Most were unaware that they were supposed to receive a kit from the medical receptionist: “I really didn’t know that that was an option at the time of my visit” (P06, never received kit). Those who expected the kit were frustrated by the lack of follow through: “If I’m signing up for something and I’m providing you the information you need in order for you to then give me what it is I’m agreeing to, then do your due diligence to follow through to provide me with what I need” (P12, never received kit). These participants often described how they would have completed GT “at the drop of a dime” (P10, never received kit) had they been handed the kit, as intended.

Lack of support and follow-up throughout BHA process
Three of the six people who received a sample collection kit later learned that the sample had failed. One participant recalled receiving minimal support from the nurse who was on staff: “She wasn’t helpful. She just gave me the test and told me to follow the instructions” (P04, sample failure). This participant also expressed low perceived confidence to resubmit their new sample by mail: “I never used the other kit because I read the directions again and I didn’t want to do it wrong again” (P04, sample failure). The other two who had sample failure reported that family and personal health issues kept them from resubmitting their mail-in GT kit. Of the remaining three who chose not to submit a saliva sample, all still had an interest in completing GT, but were overwhelmed during their mammogram appointment and did not view it as an immediate priority: “I didn’t even open it … I thought to myself I just want to get out of here right now, and I’ll do it later, and later just never came” (P01, chose not to submit a sample). These participants also highlighted the importance of timely follow-up for those who did not complete testing at their appointment.

Screening mammogram is convenient for GT
Although participants cited several workflow issues that hindered sample collection, they generally agreed that screening mammograms were a valuable opportunity to increase GT access and uptake: “I think that was an effective way of doing it. I wish more people; more women had the opportunity to give the sample. I hate that I ruined my sample. But yeah, I think it’s a good thing” (P09, sample failure). Participants expressed support for offering GT at the same time as their screening mammogram to save time: “That would be perfect, because that’s not something that I need to walk out the door with, that’s not something that I would have to do at home, I could do it right there, in that moment, and it’s taken care of” (P08, never received kit). Another participant went on to share: “I think it would be really convenient for busy individuals, mothers, let’s put it all in one appointment” (P02, chose not to submit a sample). Although participants viewed GT at screening mammograms favorably, they emphasized the need for clear information and expectations throughout the entire process.

Participant-suggested recommendations for improving GT completion among at-risk Black women

Start the conversation early
Participants perceived that information about genetics and GT is not widely shared in the community, and that healthcare providers frequently fail to discuss these topics with them, leaving them feeling uninformed. They discussed significant gaps in awareness: “There’s not enough context around it, I don’t think that it is talked about a lot, I don’t think that the information is shared” (P08, never received kit). As one participant noted: “Lack of information leads to the fear and to the shame” (P02, chose not to submit a sample). Another participant emphasized how these emotional responses may further impede information seeking about GT:“They will chalk it up to, ‘I’m not going to understand it,’ ‘I’m not going to know what they are talking about.’ They don’t want to ask questions because they may be embarrassed to show or feel like they don’t know what they’re talking about” (P12, never received kit).

Increase community-based outreach and engagement
Participants discussed how a lack of trusted advocates in their community may contribute to reluctance or hesitancy toward GT: “I just think we just need to have better advocates for our health and I think once that happens, then we’ll listen more (P06, never received kit). They highlighted the importance of raising awareness through ongoing community engagement and consistent communication, such as signs, brochures, and educational classes. One participant mentioned that community engagement would be more effective if led by someone from their own community:“I’m going to say, have [somebody who is] an African American to help reach out to the community on behalf of y’all. Not saying that like other folks wouldn’t be received, but it just hits different when it comes from somebody from your own community” (P03, never received kit).

Integrate interpersonal touchpoints for human connection
In addition to community outreach, participants expressed a strong desire for an interpersonal touchpoint with trusted healthcare providers and community advocates to bridge information gaps and build trust: “Sometimes you just want to hear, ‘Hey, this is just to help you in case there is something, then the doctors can tackle it early.’ Just providing that emotional support sometimes goes a long way” (P07, chose not to submit a sample). Many suggested having dedicated support from staff with genetics expertise to provide one-on-one guidance when involving patients in the GT process:“Going back to the whole embarrassment kind of thing, sometimes we lose, or we have lost also the human interaction. And for some African-Americans too, they’re not all tech-savvy. And so the one-on-one is still very important” (P12, never received kit).

Several participants agreed that information about GT would be most effective if delivered by trusted healthcare providers, such as their primary care physicians:“Maybe the person that communicates this and that offers this level of testing should be their primary care doctor, people that they have regular communication because there’s a trust factor that’s there. And that’s been one of the barriers to us receiving a lot of care in the past, and probably now, is those concerns” (P10, never received kit).

Discussion
This qualitative study addresses a critical but underexplored gap in the delivery of GT through an FHH screening tool (i.e., BHA) by examining why some Black women who initially consent to guideline-recommended GT do not complete testing within our community health system. We identified key barriers and facilitators to post-consent GT completion as well as broader participant-suggested considerations to improve follow-through among Black women identified as high-risk for IBC. Aligned with CBPR principles,25 we meaningfully translated qualitative findings into actionable strategies that target an understudied post-consent step in the implementation process.16 Employing CBPR created mutual benefits for both the research and community team members, empowering community members as advocates who expressed commitment to disseminating GT information within their own social communities.
Our findings show that lack of GT completion among study participants was primarily due to logistical challenges, including not receiving the saliva sample collection kit or lacking follow-up support, rather than historical or sociocultural factors that are often discussed in the literature.15,16,19,20 While participants acknowledged persisting sociocultural barriers in their communities, including historical mistrust of the medical system and skepticism about GT, these factors were not perceived as personal barriers and did not strongly influence their initial decision to consent or subsequent decisions to complete testing. This contrasts with most prior studies, which report that cultural barriers within the Black community strongly influence decisions to undergo GT for inherited cancer risk.15,20,30,31,32,33 The absence of strong sociocultural barriers in a late post-consent stage does not negate their importance earlier in the care pathway but rather suggests that passive system failures may disproportionately affect Black women who are otherwise motivated to proceed. Accordingly, our results highlight the need to evaluate multi-level implementation processes within the BHA clinical workflow to identify and address post-consent gaps in GT and improve follow-through with sample collection.
Participants provided practical recommendations to encourage GT completion among Black women at-risk for IBC. These included prioritizing early education, consistent communication, and increasing community awareness through culturally accessible strategies such as signage, brochures, and seminars delivered in clinics, grocery stores, and community centers. Many of these strategies have been described previously, emphasizing the need for culturally tailored or sensitive approaches when engaging marginalized communities.17,30,31,33,34,35 Our findings suggest that intervention efforts must also be culturally relevant and reflect the lived experiences of the community to promote equitable engagement.
An important point shared by both participants and CBPR team members was that human connection and interpersonal touchpoints are crucial to engaging Black women in GT as well as in health care in general. Prior research has shown that, in addition to insufficient knowledge and awareness, when care feels impersonal, Black patients report greater mistrust, disengagement, and skepticism toward medical recommendations, including GT.15,30,32,33 While many studies suggest intervention strategies such as patient and community education, provider training, expanded insurance coverage, and scalable and systematic approaches to reduce disparities in the use of GT,16,30,31,36 our results highlight the importance of having a “warm hand-off” to support patient navigation, foster trust and confidence, and provide clarity during the multistep GT process. Such interpersonal connection not only addresses cultural barriers in the broader Black community but also can help overcome logistical challenges identified in the clinical workflow. As health systems increasingly rely on automated, scalable approaches for implementing risk assessment tools, our results raise an important question: How much automation is too much? Personalized support may remain crucial for promoting equitable GT uptake.

Limitations of the study
Due to the relatively small sample size of the study, our findings may not be generalizable to the broader Black community or to individuals receiving care outside our health system. Participants’ lived experiences and perspectives represent perceived barriers and facilitators within this context and may not reflect all experiences of Black women across population genetic screening programs. This pilot study focused specifically on the experiences of patients who consented to but did not complete GT within a unique population genetic screening program (i.e., the BHA) at our institution, with the goal to identify implementation strategies in improving GT completion. In addition, participation in the study may have been limited by potential technology barriers as all communication and interview participation involved access to the electronic patient portal and a virtual videoconferencing platform. This limitation may be minimal, given that the BHA program was also delivered electronically. It is also important to recognize that recall bias may have influenced participant responses, as some interviews were conducted months to over a year after their mammogram appointment. Lastly, participants had already completed the BHA and consented to GT, which may reflect a more engaged group with more positive views toward GT than those who did not engage at all.

Conclusion
This qualitative study identified key barriers and facilitators to GT completion after consent among Black women at increased risk for IBC, identified through a FHH screening tool (i.e., BHA) within our community health system. Although participants perceived cultural mistrust and limited knowledge as persistent barriers within the broader community, post-consent GT incompletion was largely influenced by logistical and system-level failures, including workflow errors and lack of dedicated follow-up support. These findings suggest that, once consent is provided, incompletion of testing reflects gaps in care delivery rather than lack of interest or attitudinal resistance. Applying a CBPR approach allowed us to co-develop actionable strategies aimed to improve post-consent GT completion among Black women with increased risk of IBC. Future efforts should focus on integrating human touchpoints into scalable clinical workflows, expanding culturally tailored outreach, and engaging in community partnerships to support GT completion and follow-through.

Data and code availability
There are restrictions to the availability of our qualitative data due to the possibility that identifying information is present in participant responses. De-identified data and study materials presented in this paper may be made available by the corresponding author upon request.

Consortia
The community members of the Community-Based Participatory Research Team are Latonya Carter, Tami Daniel, Ontisar Freelain, Peggy Gayle, Ama Johnson, Michelle McKenith, and Turqueya Wilson.

Acknowledgments
We thank the mammography clinic patients for their participation in this study. We also acknowledge Christopher Ward for their valuable contribution to this project. Funding for this study was provided by the Institute for Translational Medicine.

Author contributions
Conceptualization, S.H.C., P.G., V.H., and H.M.D.; formal analysis and methodology, S.H.C., S. Ramesh, S. Reed, and G.M.; funding acquisition, S.H.C. and H.M.D.; investigation, S.H.C., S. Ramesh, and G.M.; validation, S.H.C., S. Ramesh, S. Reed, G.M., P.G., V.H., and H.M.D.; writing – original draft, S.H.C., S. Ramesh, S. Reed; writing – review & editing, S.H.C., S. Ramesh, S. Reed, G.M., P.G., V.H., and H.M.D.

Declaration of interests
G.M. has received compensation from Endeavor Health for their consulting work on this project.