Primary care stakeholder perspectives on clinical implementation of patient-reported hereditary cancer risk-assessment

Abstract

Background

Most individuals at increased risk of hereditary cancers are unaware of their risk status, in part due to the suboptimal implementation of evidence-based hereditary cancer screening in primary care. Identifying contextual determinants of implementation is necessary to facilitate implementation and subsequent cancer prevention. To inform these efforts, we assessed implementation determinants and needs across diverse primary care clinics.

Methods

Between December 2023 and December 2024, we conducted qualitative interviews with primary care stakeholders identified through public databases and snowball sampling. Semi-structured interviews explored factors necessary to implement an evidence-based intervention: a patient‑reported family history screening tool for hereditary cancer risk assessment. We used content analysis to characterize implementation determinants according to the Consolidated Framework of Implementation Research.

Results

Nineteen stakeholders from physician offices (n = 9), outpatient clinics (n = 7) and community health centers (n = 3) completed qualitative interviews. Stakeholders viewed the intervention as feasible to implement and highlighted non-clinician-led workflows and electronic medical record integration as key facilitators. Outer setting factors such as inconsistent insurance coverage, variable patient out of pocket costs for genetic testing, and the need to align care delivery with national guidelines were key considerations. Inner setting barriers to implementation included resource constraints, competing medical priorities, and potentially low survey completion rates. Clinic leaders and primary care providers reported variable experience with cancer genetic testing, but many expressed interest and capacity to implement the intervention.

Conclusion

Stakeholders endorsed interest and willingness to implement a patient-reported family history screening, but identified important outer and inner setting barriers that must be addressed for effective implementation. Integrating decision support tools, improving education efforts, and engaging payors to standardize recommended guidelines may improve genetic testing access for patients at-risk for hereditary cancers.

Supplementary Information

The online version contains supplementary material available at 10.1186/s12875-026-03285-7.

Background

The primary care setting offers a unique opportunity for hereditary cancer risk assessment due to the established, longitudinal relationship between patients and providers, and the routine integration of cancer preventive screening in primary care practice [1]. Recognizing this potential, the US Preventive Services Task Force (USPSTF) has recommended since 2013 the evaluation of family history to assess hereditary cancer risk in the primary care setting [2]. Hereditary cancer screening involves collection of family history information (age of diagnosis, cancer type, degree of relation) and if warranted genetic testing to identify inherited genetic variants [3, 4]. Genetic testing can inform cancer surveillance and prophylaxis for at-risk individuals [2]. Yet, implementation of hereditary cancer screening in primary care settings remains suboptimal, in part, due to reliance on passive diffusion of guidelines into clinical practice. Rigorous examination of implementation challenges and needs across diverse practice settings is necessary to inform active implementation efforts.

Hereditary Breast and Ovarian Cancer syndromes (HBOC) often involve aggressive early-onset tumors [5]. Yet, less than 20% of individuals with pathogenic BRCA1 or BRCA2 variants have been identified [5, 6]. This significant gap in identification is a missed opportunity for cancer prevention and early intervention, highlighting the urgent need for wider implementation of guideline-concordant screening strategies through better adoption of existing risk assessment tools. The USPSTF has identified five validated tools for HBOC risk assessment, of which the 7-Question Family History Screening (FHS-7), featuring a brief set of yes/no questions and clear, actionable referral guidelines was found to be most user friendly [7–10]. A recent implementation of a patient-reported version of the FHS-7 within a large academic primary care clinic demonstrated success in identifying high-risk individuals, underscoring its utility in routine care settings [11].

Significant barriers for implementation of systematic hereditary cancer screening persist across the patient, provider, and health system level. These include varying medical priorities, cost and access concerns, limited patient knowledge about genetic testing services (patient-level) [12–14]; limited provider time and resources for genetic counseling, insufficient confidence in genetic competencies (provider level) [4, 14, 15]; inadequate integration of risk-assessment processes into electronic medical record (EMR), and difficulties with genetic testing referrals (health system-level) [14]. Much of the existing evidence was generated in larger primary care settings while implementation challenges unique to smaller settings that serve diverse populations have largely remained unexamined. This study explores stakeholder perceived pre-implementation barriers and facilitators to implementing a patient-reported, EMR-embedded, hereditary cancer screening program and aims to identify strategies to support adoption.

Materials and methods

Study design and theoretical framework

In this pre-implementation qualitative study, we conducted semi-structured interviews with primary care stakeholders from across Dallas, Texas. Dallas has a majority-minority population with a population of 2.6 million (42% Hispanic, 22% Black), of whom 14% live in poverty and 21% lack health care coverage [16]. Data was collected across diverse primary care settings: large academic centers, private family medicine clinics, and community health centers. The Consolidated Framework for Implementation Research (CFIR) was used to develop the interview guide (see Additional File 1) and for analysis [17]. The study was approved by University of Texas Southwestern Institutional Review Board (STU-2022-1111).

Intervention

The intervention was defined as family history-based risk-assessment using FHS-7 in the primary care setting [11]. The FHS-7 was adapted for patient self-administration and delivered through the electronic patient portal for completion prior to or during the primary care visit as part of clinical workflow. Patients who met criteria for elevated hereditary cancer risk were connected to follow-up genetic counseling and testing through a patient navigator.

Setting and sampling strategy

We identified and recruited organizational stakeholders using purposive and snowball sampling. Stakeholders included primary care physicians, nurse practitioners, and medical directors. Potential participants were identified using public information and institutional employee contact lists. Research staff contacted stakeholders via email, list-servs, or other professional networks to invite them to participate in a 30-minute telephone interview. All participants provided informed consent and were given a $30 gift card as compensation. Recruitment occurred between December 2023 to December 2024.

Data collection

A semi-structured interview guide was developed specifically for this study based on the Consolidated Framework for Implementation Research, CFIR (see Additional File 1). The five overarching CFIR domains cover aspects of the design and cost or the intervention characteristics; aspects of organizations and how they operate in the inner setting; individuals within the organization or characteristics of individuals like the culture and leadership, how outside organizations or outer settings and beliefs, and implementation processes impact on successful implementation of an intervention. The interview questions were adapted from the online CFIR guide, which provides a list of potentially relevant interview questions for each of the constructs [17]. Interviews were conducted by one author (AG), who had no existing relationship with the participants. Interviews were conducted via Microsoft Teams and audio recorded. After each interview, participants were asked to identify additional eligible stakeholders using snowball sampling. Referred individuals were subsequently invited by email if they met inclusion criteria (stakeholders involved in primary care in the Dallas–Fort Worth area). Multiple stakeholders from the same organization were eligible to participate to capture diverse perspectives across roles and practice settings.

Data analysis

Stakeholder interviews were conducted via Microsoft Teams, digitally recorded, and automatically transcribed using the platform’s transcription feature. Transcripts were subsequently reviewed and manually corrected for accuracy and uploaded to ATLAS.ti software for qualitative analysis. We used deductive analysis guided by CFIR, a practical framework of constructs across 5 domains that can be used to help guide systematic assessment of potential barriers and facilitators, tailoring of implementation strategies and needed adaptations, and/or to explain outcomes. We categorized codes into four domains: intervention characteristics (cancer risk assessment practices and perceptions of the screening tool), outer setting (financial considerations, local patient attitudes, external guidelines), inner setting (compatibility, relative priority and organizational readiness), and individual characteristics (provider role, confidence, and attitudes toward genetic screening). The implementation process domain was excluded from data analysis because stakeholder interviews did not discuss active implementation strategies or behaviors.

Two team members (AG and TI) selected a subset of the transcripts, read, and coded them independently to familiarize themselves with the data. Draft potential thematic codes were organized into a codebook using a combination of deductive categories (i.e., based on CFIR) and inductive categories (i.e., arising from the data). They coded the remaining transcripts using this codebook, compared codes and made additional notes and refinements to the thematic categories, reviewing patterns, finalizing themes, and selecting quotations that exemplified the themes. Throughout the analytic process, the analysts met regularly to discuss and resolve discrepancies. If disagreements persisted, a senior researcher (SM) contributed to adjudicating disagreements.

Results

Nineteen primary care stakeholders, representing 17 clinics participated in the interviews: the majority were physicians (n = 16), worked in physician’s office (n = 9), and five were high level clinic leaders at their organization responsible for shaping the overall strategic direction and operational effectiveness (Table 1). A summary of themes can be found in Table 2.

Table 1.

Clinical roles and practice settings of interviewed stakeholders (n = 19)

Characteristics	n (%)
Clinic Role
Physicians	16 (84)
Nurse Practitioner	2 (11)
Registered Nurse	1 (5)
Participant Sex
Female	17 (89)
Male	2 (11)
Leadership Position
High Level Leaders	5 (26)
Mid-Level Leaders	14 (74)
Clinic Site
Physician Office	9 (47)
Hospital Outpatient Clinic	7 (37)
Community Health Center	3 (16)
Insurance Coverage
Predominately insured patient population	16 (84)
Predominately uninsured patient population	3 (16)

Table 2.

Results of themes from interviews with primary care stakeholders mapped onto Consolidated Framework for Implementation Research (CFIR)

Characteristics of Intervention	Inner Setting	Outer Setting	Individuals Involved
• Stakeholders valued provider-independent screening, EMR integration, direct referrals to genetic counseling. • Suggested adaptations included screening reminders, and designated coordinator to oversee screening. • Disagreement about universal versus targeted screening; others favored using clinical judgment. • Belief that patient-reported surveys would have low completion, inaccuracies, redundancy complaints, and access issues.	• Stakeholders’ organizational culture was supportive of patient-centered care and high-quality guideline concordant care. • Most viewed the intervention as a lower priority amid competing clinical demands, though relevant for specific groups. • Compatibility of survey administration method with EMR systems was deemed a facilitator. • Implementation concerns include physician resistance from increased workload.	• Perceived costs and unclear coverage for genetic testing were major barriers. • Alignment of screening with payor policies, beyond USPSTF would facilitate wider implementation.	• Stakeholder experience with genetic referrals varied widely. • High- and mid-level leaders emphasized need for evidence before implementation. • Interest was shaped by clinical relevance, patient population needs, and guidelines

Current family history collection and hereditary cancer screening practices

All stakeholders reported collecting patients’ family histories, but practices varied with regards to collection frequency (updates at every visit to every annual physical) and the content of collected data. At some clinics, patients completed family history surveys while at other clinics, the medical assistant or stakeholder collected this information. Even if patients were responsible for providing family history, many stakeholders reported the need for further verification: “I don’t trust any of them (patients) to enter it: I have to review it.” (PP3) Only one stakeholder had a systematic method for screening for hereditary cancers while others relied on clinical intuition or the general patient family history form to trigger screening process. Scenarios reported to trigger the screening process included multiple family members with cancer, early onset cancer in first-degree relative, and family history of pathogenic genetic variants. Two stakeholders mentioned breast radiology reports with concerning incidental findings as a prompt to recommend genetic testing for patients without personal cancer history. Stakeholders described a range of referral pathways for genetic counseling and testing. Seven had access to in-house genetic services, four relied on external genetic providers, three coordinated referrals through a central center, two referred patients to oncology services, and one had no direct access to genetic services at all. These differences in referral capacity shaped how easily patients could connect to follow-up care.

Characteristics of the intervention

Adapted FHS-7

Most (11/19) stakeholders reported low barriers to implementation of the intervention, reflecting on the simplicity and shortness of the questionnaire (yes/no answers only). “I think that it could be implemented pretty easily because like I said, it’s not terribly time consuming if we’re talking about less than 10 questions” (PP12). Stakeholders expressed interest in several existing intervention components including provider independence, ability to embed into EMR, and direct referral pathway to genetic counseling and testing. However, the intervention’s trialability was also deemed important and stakeholders were interested in the extent to which the intervention could be tested on a small scale and modified or reversed if needed before broader adoption: “We may have a smaller group of kind of the early adopters that try something first and then we work out the kinks and then we show it to the rest of the group” (PP14). Other desired adaptations to fit their specific clinic context included best practice alerts for hereditary cancer screening reminders, designating a specific point person to manage overall screening process, text reminders to patients for survey completion, and Spanish language functionality.

Universal screening

There was persistent disagreement about whether all or a subset of all primary care patients should undergo hereditary cancer screening. Some voiced concerns about universal screening and expressed a preference for choosing “a target population of like this certain area or this age group class, gender [that] has the highest occurrence” (PP5). Others found the intervention to be advantageous to implement primarily due to the unbiased nature of the screening. “That that sounds really systematic getting a specific protocol, so your patients have you have standardized answers” (PP19). Yet others (n = 3) expressed a preference for their current screening approach over introducing anything new, citing confidence in their clinical judgment and the thoroughness of their existing processes. “I feel at this point what I’m doing is ample because I do put a lot of emphasis on cancer and cardiovascular screening” (PP15).

Patients’ knowledge of family history and interest in genetic counseling

Stakeholders shared differing perspectives on patients’ knowledge of their family history of cancer. Some noted strong awareness—particularly among older patients—while others observed significant gaps. One stakeholder explained, “A lot of times the younger patients don’t know if their grandma died of breast cancer, they only know like ohh my grandma died. …Whereas the older ones do know what their sisters had, or their brothers had, or their aunts had in my experience” (PP7).

Similarly, stakeholders reported varied patient attitudes toward genetic counseling and testing. Some felt that their patients respond positively, express interest and a willingness to undergo counseling. Often, this interest is driven by a desire to understand health risks for themselves or their family. As one stakeholder explained, “If they are aware of a family history, then I think the majority prefer to be informed and get additional screening” (PP8). Few stakeholders also noted that younger patients tended to find the testing more relevant whereas older adults question the relevance of testing, “[patients say] Why would I bother to test this? I’m already 80 years old. I’m not going to get it if I haven’t had that cancer by now” (PP6). On the other hand, many stakeholders observed reluctance among patients when it came to genetic testing. They felt that patients often do not want to know the results, experience anxiety about what testing might uncover, or are concerned about cost and insurance coverage. Additionally, several stakeholders noted that patients generally prioritize more immediate health concerns, “They’re trying to get their meds or their day-to-day issues versus digging deeper and looking into genetics” (PP5).

Patient-reported surveys

Stakeholders reported challenges related to patient-reported surveys. Completion rates were described as inconsistent, “Sometimes they answer, sometimes they don’t. Sometimes they feel I think what does it matter after so many years? They just don’t do anything” (PP3). Drawing from their experience with existing patient-reported surveys, stakeholders reported considerable variability in completion rates. Some noted that very few fill surveys out ahead of time while others observed that completion often “very much depend on their age and if they are, you know, tech savvy or not” (PP10). Stakeholders also felt that patients are frustrated by lengthy surveys, the need to repeat the same information to different staff members and have difficulties in navigating online forms. One stakeholder recalled a patient saying, “Why are you asking me to fill 15 different forms? I’ve been coming to this practice for the past 20 years, like I don’t know when I did this. You should know those kinds of things” (PP17). A few stakeholders also expressed concern about the accuracy of responses, with one stakeholder noting, “Most of them just want to scribble, and you know, they want to finish the paperwork” (PP16).

Outer setting

Stakeholders discussed several external considerations that could impact implementation including financing, local patient attitudes, and national cancer prevention screening guidelines. Cost and insurance coverage for genetic counseling and testing emerged as major implementation barriers. Many were uncertain about what services would be covered by insurance and noted, “Because if it’s not covered by the insurance, [patients] tend to not follow through with further testing” (PP11). Another added, “I’ve had situations where… the testing was covered, but the consultation with the genetic counselor was not covered” (PP8). The importance of external policies and incentives in driving adoption of intervention was often emphasized. Some indicated they would be more likely to implement the intervention if it were incorporated into required annual screenings such as U.S. Medicare Annual Wellness Visits (annual preventive visits for adults aged ≥ 65 years covered by federal health insurance) or linked to Accountable Care Organization (ACO) quality metrics [18]. As one stakeholder noted, making it “part of the ACO required questionnaire [would help with] streamlining the process so you may say that becomes easy for us to just follow the guidelines” (PP18). Others emphasized alignment with national guidelines, like USPSTF, as a key consideration in prioritizing implementation.

Inner setting

Many raised concerns about resource compatibility, citing limited trained staffing, time constraints during visits, and lack of long-term care as potential barriers to integrating the intervention effectively. To address these constraints, many stakeholders stressed the importance of a non-provider led pathway: “Having a process that is not driven by the physician. If somebody else takes charge of getting the data gathered and giving us the data”(PP2). Several stakeholders also noted intervention compatibility with their EMR systems, emphasizing that it would be relatively easy to integrate the survey into existing patient portal workflows.

Culture

Five stakeholders commented on their clinic’s internal culture. Some described a strong focus on patient-centered care, emphasizing caution around ordering unnecessary tests or “opening a big can of worms” (PP5) to avoid causing patient anxiety. Another highlighted a culture of human equality-centeredness, stating, “We have standards of care that we want for every patient, no matter who you are … It’s for insured and uninsured—to the best that we can do” (PP1). Furthermore, all reflected on relational dynamics within their clinics, highlighting how stakeholder relationships influence practice adoption. Some described environments where, once one stakeholder adopts a new approach, others tend to follow. Others, however, noted a more individualistic culture. As one stakeholder explained, “It’s all individual, even though we are a big clinic, everybody does their own thing. It’s not where we all get together and say, hey, let’s just start this for every patient or anything” (PP15). Thirteen stakeholders noted that their organizations were generally open to new interventions, with many expressing interest in this intervention because it could “improve primary outcomes, especially for preventative type of medicine” (PP11). However, two stakeholders indicated that their organizations would likely not be interested, citing physician pushback against interventions perceived to increase workload.

Relative priority of intervention

Most (14/19) stakeholders viewed the intervention as a low priority and only two considered it a high priority. Reasons cited for the intervention’s lower priority included limited perceived patient need, a focus on other medical priorities, and a focus on setting up operational systems for new clinic sites. As one stakeholder explained, “I don’t think they’re very concerned about genetic testing. I think they’re more trying to address like high blood pressure and diabetes, and the main concerns right now versus like genetic issues” (PP5). However, three stakeholders noted the intervention could be a high priority for specific segments of the population, such as middle-aged patients. While many stakeholders saw potential value in the intervention, seven reported a low tension for change to make improvements in their current screening system for hereditary cancers as many claim they were “doing all the preventive breast cancer screening, cervical cancer screening” (PP18).

Characteristics of Individuals

Leadership Perspectives on Evidence Required for Implementation

Among the interviewees, both high level leaders (e.g., lead physicians or medical directors) (n = 5) and mid-level leaders (n = 14) expressed shared interest in a strong evidence-base prior to implementation but specifics of desired data varied. High level leaders emphasized need for credible evidence to justify adoption with one stakeholder noting, “We just don’t want to randomly…take on something which is not going to help us or help our patients” (PP10). Some mid-level leaders expressed similar need for clinically relevant data with one asking, “I really want to know… what is the incidence of genetic problems… is it really one in a million? Is it worth spending an extra five minutes with each patient for something like that?” (PP7). Others were unsure about the type of evidence their organization prioritized, while some felt the intervention “speaks for itself” (PP4) and believed its adoption would ultimately depend on the priorities of clinical decision makers.

Experience with and interest in hereditary cancer risk assessment

Stakeholders reported varying levels of prior experience with the genetic referral process: six described regular interaction, eight had limited experience, and five had no experience at all. Referral barriers included perceptions of limited benefit for specific patient populations (uninsured or geriatric), financial constraints, limited knowledge about genetic testing resources, and low incidence of family history for hereditary cancer. One shared, “In my 20 years of practice, I think maybe a couple of patients we have referred, and then the main issue is it is not covered” (PP19) underscoring both the limited frequency of referrals and financial barriers. Despite these challenges, nine stakeholders were highly interested in the intervention, viewing it as a useful way to improve cancer screening and help stay current with guidelines. As one noted, “I’m very, very interested in this because there’s just so much to stay on top of in primary care guidelines” (PP8). Others expressed that hereditary cancers were not a clinical priority or believed their current family history collection practices sufficiently addressed hereditary cancer risk.

Discussion

This qualitative study examined stakeholder perspectives of factors that may shape future implementation of patient-reported hereditary cancer screening in primary care settings. Compared to prior work conducted among providers from homogenous well-resourced settings, this is the first study to examine perspectives of primary care stakeholders, representing varied practice settings. Hereditary cancer screening using patient-reported family history was considered feasible, less demanding of provider time, and an efficient means of aligning care delivery with recommended guidelines. However, ambiguity about the recommended screening population, insurance coverage for follow-up genetic counseling and testing, and overall clinical utility were expressed by several stakeholders as barriers to implementation, suggesting the need for careful pre-implementation provider education. While many were interested in implementing screening and felt that their organizations would also be supportive, practical challenges around competing medical priorities, and limited time to verify patient-reported family history information were also issues that needed to be addressed. The endorsement by USPSTF helped establish the screening as evidence-based and trustworthy, but alignment with insurance was suggested to further increase chances of implementation.

Stakeholders were uncertain about the clinical utility of family history-based hereditary cancer screening for all primary care patients. Some believed screening should be limited to selected populations rather than screening all as recommended by current USPSTF guidelines [19]. However, this exposes an inherent tension: individuals at elevated hereditary cancer risk are not identifiable without an initial risk assessment process, yet many primary care clinicians were hesitant to implement broad screening across all patients. Genetic risk assessment is a multi-step process that begins with identifying patients with family or personal histories of cancer. Current guidelines recommend that only those deemed high-risk based on established criteria, such as early-onset cancer, multiple affected relatives, or known pathogenic variants in the family be referred for follow-up genetic counseling [2]. For stakeholders, this system provides a systematic method to efficiently identify eligible patients for further workup, ensuring that counseling and testing resources are targeted to those most likely to benefit. Moreover, evidence suggests that the greatest benefit of hereditary cancer screening occurs in younger populations during the primary prevention window between ages 25 and 65 [20–22]. However, due to stakeholder uncertainty and many barriers frequently cited in primary care, many perceived universal screenings for HBOC as a low priority[23]. Our findings are consistent with previous research indicating lower adherence to HBOC screening compared to other preventive screening practices [24–26]. Improving primary care providers’ awareness of guidelines, the underlying evidence base, and clinical utility of hereditary cancer screening through educational meetings, trainings, and outreach visits should be key implementation strategies.

Genetic risk assessment strategies based solely on family history may miss a substantial proportion of individuals who carry hereditary cancer predisposition variants, compared to universal genetic testing or population genomic screening [27–29]. Family histories are also dynamic and may evolve over time, especially for adolescents and young adults, which can limit the effectiveness of one-time assessments in primary care [30]. These limitations are particularly relevant considering stakeholder preferences for more restrictive screening approaches, which may inadvertently cause under-identification of at-risk individuals. However, studies have shown large-scale population screening initiatives for individual and combined genetic conditions can be cost-effective and improve detection for hereditary cancer syndromes [29, 31]. Together, these findings underscore the need for systematic approaches that identify at-risk individuals more reliably.

In this study, alignment of clinical practice with national guidelines was an important motivator for implementing any evidence-based intervention. Thus, the existence of USPSTF guidelines was an important outer setting facilitator. However, in primary care, adherence to screening guidelines is often guided by payor requirements (ex. ACO, Medicare, Medicaid) for annual visits. These organizations increasingly emphasize preventive care and are invested in improving early cancer detection rates [32, 33]. Collaborating with payors to formally incorporate hereditary cancer risk assessment into routine annual screening workflows may be a critical step toward improving hereditary cancer screening rates and closing existing implementation gaps. Embedding structured risk assessment into routine care could enhance clinical utility through earlier risk identification and timely counseling and prevention. Prior studies also highlight that payor-supported integration can normalize hereditary cancer risk assessment within preventive care through guideline-concordant coverage policies and reimbursement pathways that facilitate adoption in primary care [34, 35].

Stakeholders emphasized the importance of structured, streamlined processes for hereditary cancer risk assessment. Design features embedded in the intervention, such as minimal reliance on providers for hereditary cancer screening and direct referral pathways to genetic services were deemed particularly valuable in reducing provider burden and promoting consistent implementation. They proposed additional adaptations for their organizational and clinical context, such as best practice alerts (BPA) and designating a clinic staff member to coordinate follow-up and referrals. BPAs were suggested as a tool to support implementation because they provide real-time prompts, enhance awareness and streamline decision-making for complex conditions [36–38]. While there are concerns about alert fatigue and inconsistent provider engagement, limiting recurring alerts and involving support staff to review risk information can reduce provider burden [39]. Although designating a staff member to manage the hereditary cancer screening process was proposed, this may be challenging in resource-limited primary care settings.

Financial barriers of subsequent genetic counseling and testing emerged as a significant concern among stakeholders. While most private insurers cover hereditary cancer genetic testing and genetic counseling, coverage remains variable and often more limited for patients with commercial insurance [40–42]. This concern is amplified in Texas, where a substantial portion of the population is uninsured or dependent on Medicaid and Medicare [43]. However, some genetic testing laboratories have financial assistance programs to support under- and uninsured patients to expand access to genetic information. Eligibility typically depends on household income usually based on the federal poverty line, insurance status, and medical necessity, with documentation often required to verify financial need [44]. Addressing financial barriers will require engaging with policymakers and payors to standardize insurance criteria for genetic counseling and testing coverage across the payor spectrum while also developing alternative funding mechanisms to support uninsured patients. These efforts align with implementation strategies aimed at changing regulations and policies to ensure consistent reimbursement, reduce variability in coverage, and expand access to genetic services regardless of insurance status.

Limited stakeholder familiarity with clinical utility of screening, genetic counseling, and testing likely contributes to hereditary cancer screening underutilization, even among insured and eligible patients. This unfamiliarity fostered misconceptions, such as overstating patient anxiety about genetic testing, which previous studies have shown is typically short-lived and outweighed by the long-term benefits of early risk detection [45, 46]. Increasing stakeholder familiarity with genetic services through targeted education may help close this gap. Previous studies have shown that brief educational modules can improve provider confidence in making appropriate genetic testing referrals, which could be implemented through continuing medical education (CME) credit–based programs [47].

This study has several limitations. All stakeholders were from the Dallas–Fort Worth area, a large and diverse metropolitan region in the southern United States with a majority minority population served by a mix of urban and suburban health systems [16]. However, this localized focus, where implementation efforts are planned, allows for an in-depth understanding of local perspectives that may inform tailored implementation strategies. The sample size was composed primarily of physicians, which may not capture the full range of insights from other primary care staff involved in implementation; however, physicians and medical directors are key decision-makers who drive screening practices and implementation efforts. The use of snowball sampling may have introduced referral bias, as participants could have recommended colleagues with similar perspectives. Including multiple stakeholders from the same organizations may also have contributed to thematic convergence. We attempted to mitigate this by recruiting across diverse organizations and clinical roles. Despite these limitations, our findings align with previous research in other settings, where stakeholders similarly expressed mixed perspectives on the implementation and reception of systematic HBOC screening due to challenges related to competing medical priorities, limited provider confidence, and unclear genetic testing referral pathways [48–50]. These consistencies across varied healthcare environments suggest that the challenges and opportunities identified here may be broadly relevant and can inform efforts to optimize screening integration across varied clinical contexts.

Conclusion

This study highlights both strong interest and significant challenges in implementing hereditary cancer risk assessment tools such as FHS-7 within primary care settings. The settings lacked formalized processes for hereditary cancer screening, had uncertainty about the prevalence of hereditary cancers, the clinical utility of screening, and the procedural steps needed to complete screening. Successful implementation will require addressing workflow integration, resource constraints, and alignment with external policies and patient needs. Future efforts should focus on refining these tools to fit clinical systems to close the gap between guideline recommendations and practice. Strategic and active implementation approaches may narrow the persistent gap between guideline and real-world practice.

Abbreviations

CFIR

Consolidated Framework for Implementation Research

USPSTF

United States Preventative Services Task Force

HBOC

Hereditary Breast and Ovarian Cancer syndrome

FHS-7

7-Question Family History Screening EMR: electronic medical record

ACO

Accountable care organization

BPA

Best practice alerts

CME

Continuing medical education

Authors’ contributions

SM and SPM conceptualized the work. NG and CD provided methodological input during study planning and execution. AG conducted the interviews and collected the data. AG, TI, and SB analyzed the data. SM supervised the work. All authors made substantial input to the manuscript. All authors read and approved the final manuscript.

Funding

Supported by the Harold C. Simmons Comprehensive Cancer Center (NCI 3P30 CA 142543-10S3).

Data availability

The datasets are available from the corresponding author on reasonable request.

Declarations

Ethics approval and consent to participate

The study was approved by the UT Southwestern Human Research Protection Program (HRPP). This study was conducted in accordance with the ethical standards set forth in the Helsinki Declaration. All participants provided verbal informed consent to participate in the qualitative study.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.