Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study

Abstract

Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest in its potential use to guide screening practices, despite the current lack of evidence‐based guidelines on the clinical utility of PRS models. Therefore, there is a need to understand the potential challenges and factors associated with PRS use in primary care settings. This qualitative study explores the perceptions of healthcare providers with PRS information to guide CRC screening decisions in the primary care setting. Using an exploratory approach, we conducted semi‐structured interviews with 10 healthcare providers. The socioecological model guided the development of the interview questions. Transcripts were coded based on emergent themes. A total of seven themes were identified in this study, and each was organized using the socioecological model at the individual, interpersonal, community, and organizational levels. One key finding was the limited knowledge of PRS and the distinction between PRS and genetic testing for high‐penetrant germline mutations. Providers shared the need for training, education, and comprehensive clinical guidelines for the use of PRS. This study provides insights to better optimize genetic education, testing, access, and care for improved CRC screening in at‐risk individuals.

What is known about this topic

Genetic testing of highly penetrant cancer susceptibility genes can identify patients at high risk for colorectal cancer (CRC) and inform screening and prevention efforts. Polygenic risk scores (PRS) have the potential to provide additional information to enhance CRC risk prediction in the population.

What this paper adds to the topic

This research presents the perspectives of healthcare providers on the use of PRS models for CRC risk prediction and screening recommendations. The results of this qualitative study identify critical implementation factors and provider perspectives that can inform the development of future PRS guidelines, particularly for primary care settings serving different patient populations. Themes identified share valuable insights on potential strategies to overcome challenges and promote CRC risk reduction.

1. INTRODUCTION

Knowledge of genetic susceptibility provides valuable insights into disease risk. Genetic susceptibility ranges from high‐risk, single‐gene cancer predisposition syndromes, like Lynch syndrome, to low‐risk single‐nucleotide variants (SNPs). To date, research shows that there are hundreds of low‐risk SNPs, which collectively contribute to the risk of many common diseases (Chen et al., 2024; Huyghe et al., 2019; Lemire et al., 2015; Schmit et al., 2019). Summarizing these risk alleles into a single measure, known as a polygenic risk score (PRS), has been shown to reliably predict risk for various conditions and identify high‐risk individuals for preventive strategies (Khera et al., 2018). PRS models have become more widely available since 2017, when the United States (U.S.) Food and Drug Administration authorized direct‐to‐consumer tests that offer genetic risk information for various conditions. Currently, PRS can be obtained by physicians, genetic testing companies, or purchased directly by consumers without the involvement of healthcare providers (Park & Lu, 2023). However, PRS is not recommended for widespread implementation in the clinical setting by the American College of Medical Genetics and Genomics (ACMG) due to a lack of evidence supporting their clinical utility across populations (Martin et al., 2019; Office of the Commissioner, 2020). This is because many of the PRS models developed to date have been based on data from individuals of European ancestry. More recently, PRS models are being developed to account for population differences, which are anticipated to be more accurate and accessible for other racial/ethnic populations (Arnau‐Collell et al., 2022; Borrell et al., 2021; Cavazos & Witte, 2020; Tsuo et al., 2024). Clinical utility and implementation face additional challenges beyond population representation. The implementation of PRS remains limited due to multiple and interrelated challenges and complexities such as interpretation of polygenic scores, integration into workflows, and lack of evidence‐based guidelines (Hao et al., 2022; Lewis et al., 2022; Martin et al., 2019). Nevertheless, there is a growing interest in their potential use to optimize screening practices and prevention for selected cancer types, including colorectal cancer (CRC).

CRC is a potentially preventable cancer through regular screening. The three main types of CRC screening tests include blood‐based tests [i.e., fecal immunochemical test (FIT) and Guaiac‐based fecal occult blood test (gFOBT)], stool‐based tests [i.e., Multitargeted stool DNA test with fecal immunochemical testing (MT‐sDNA or FIT‐DNA or sDNA‐FIT)], and visual exams [i.e., colonoscopy, virtual colonoscopy, and sigmoidoscopy] (American Cancer Society, 2024). Evidence from randomized controlled trials, observational studies, and microsimulation modeling suggests CRC screening has contributed to a 50% reduction in CRC incidence and mortality on the population level (Zauber, 2015). However, screening rates vary substantially across at‐risk populations (Hamman & Kapinos, 2015; Jerant, Arellanes, & Franks, 2008; Jerant, Fenton, & Franks, 2008; Klabunde et al., 2011). Among 50–75‐year‐old non‐Hispanic White individuals, screening rates were 74.5% compared with 74.8% in non‐Hispanic‐Black/African American and 62.8% in Hispanic/Latino/a (herein referred to as Hispanic) individuals in the U.S. (Sokale et al., 2022). Low CRC screening rates in Hispanic individuals are particularly troublesome, given that they are expected to represent 28% of the U.S. population by 2050 (Zong, 2022). Underlying reasons for lower screening rates include the lack of health insurance, language barriers, lack of provider recommendation, embarrassment, lack of availability and access to tests, and low perceived CRC risk (Gwede et al., 2013; Rosenwasser et al., 2013; Wang et al., 2019).

While research focused on the utility of cancer genetic testing for single‐gene predisposition has consistently documented low awareness among patients, studies have also shown high interest in using it when patients are informed about its potential benefits (Hann et al., 2017). In the context of high‐risk germline variants, studies have also found that some patients may be offered genetic testing less frequently by providers due to a variety of reasons. Individuals may face challenges related to low socioeconomic status, inadequate insurance coverage, and cultural beliefs that prevent them from utilizing genetic testing (Dusic et al., 2022; Ricker et al., 2006, 2016; Sherman et al., 2014; Suther & Kiros, 2009). More specifically, among these cultural factors, lower acculturation levels, meaning less adoption of the new and dominant culture, have been shown to influence patients' awareness and decision‐making regarding genetic testing (Dron et al., 2023). Furthermore, individuals from various socioeconomic backgrounds have expressed concerns about the lack of trust in providers, privacy implications, potential misuse of genomic information, and the possibility of receiving distressing results from genomic screening (Cheema et al., 2021; Suther & Kiros, 2009). Despite limited access and underutilization of genetic testing, the large Hispanic Community Health Study/Study of Latinos (HCHS/SOL) documented a high level of perceived usefulness of genetic testing for disease risk (Christensen et al., 2022; Hann et al., 2017; Shaikh et al., 2018). Furthermore, cancer genetics services have been highly accepted by Hispanic women (Lee et al., 2005; Ricker et al., 2006). This underscores the importance of increasing awareness, access, and trust in genetic tests, especially among populations with less knowledge about and high mistrust of genetic testing, with the help of providers (Canedo et al., 2019). Understanding these challenges and insights in the primary care setting is essential when conducting research and developing clinical guidelines for PRS.

Existing studies on the perspectives of healthcare providers (HCPs) on PRS and communication discuss the lack of knowledge and implementation of PRS in clinical practices (Lapointe et al., 2022; Schwarzerova et al., 2024; Slunecka et al., 2021). HCPs have expressed concerns about their preparedness to integrate PRS into clinical practice and the need for additional training and education on result interpretation and patient communication (Andreoli et al., 2025). This concern is further emphasized by a qualitative study highlighting the importance of creating a clear and comprehensive clinical report for PRS results to help with provider and patient confidence in determining appropriate next steps (Lewis et al., 2022). Primary care providers play a vital role in this effort as they can offer unique insights into patient receptiveness to genetic testing, cultural considerations, and implementation challenges specific to their communities. Exploring providers' perspectives on PRS testing in general and specifically for CRC is essential for future integration strategies that consider their patients' particular needs and circumstances. Identifying strategies will be crucial for the successful clinical adoption of PRS as evidence‐based research and guidelines continue to advance and evolve. To gain a greater understanding, we conducted a qualitative study with HCPs to explore (1) their perceptions around CRC genetic information, (2) their role in the utility and promotion of PRS among their patients, and (3) multilevel strategies that would help in the future for integrating CRC PRS in primary care settings.

2. METHODOLOGY

2.1. Design

This qualitative study employed an exploratory approach consisting of semi‐structured interviews to investigate the perceptions of HCPs regarding PRS testing for CRC. The research team developed a key informant interview guide to help facilitate the dialogue in the semi‐structured interviews. The socioecological model (SEM) guided the interview questions to explore the various levels of impact of PRS testing for CRC risk (Figure 1). The SEM is a framework that considers the various multilevel factors, such as individual/intrapersonal, interpersonal, institutional, community, and policy levels, and their effects on human behavior and health (Leader et al., 2024). Using the SEM to guide the interview questions ensured that we captured the complex interactions between the levels, which will help us better identify approaches to address challenges and barriers. When conceptualizing the interview guide, particular focus was placed on how each level may influence PRS testing from the HCPs' perspective and insights into their patient population. We selected HCPs serving a large Hispanic community, given their clinical experience with the community and their potential understanding of factors that may contribute to the low uptake of CRC screening. Thematic saturation was the method used to determine the sample size of our study (Hennink & Kaiser, 2022).

FIGURE 1.

Sample interview questions guided by the socioecological model.

2.2. Participants and procedures

The participant eligibility criteria included being 18 years and older, and a HCP (e.g., primary care physician, nurse practitioner, physician assistant, or nurse) who serves a large population of Hispanic patients. Participants were recruited via convenience sampling (Moser & Korstjens, 2018) in California and Ohio. Recruitment was supplemented through targeted emailing and snowball sampling to overcome recruitment challenges (Moser & Korstjens, 2018). Trained research staff, our institution's community outreach team, and community‐based organization (CBO) partners distributed flyers via email to their professional networks, with detailed information on study eligibility and point of contact. Interested participants who contacted the study were emailed a REDCap link, which included demographic and screening eligibility questions. If the potential participant met eligibility criteria, they were sent a copy of the participant information sheet via email and the key informant interview date and time based on the participant's availability. Interviews were scheduled with the primary author (SE). The information sheet outlined the purpose and nature of the study and the ethical safeguards regarding data protection and privacy. Consent was obtained verbally by confirming that the individual had reviewed the information sheet. All study data were housed in REDCap and Box (HIPAA‐compliant secure storage system) with access restricted to approved research team members.

Key informant interviews were conducted online from January 2023 to June 2023 via Zoom. Before recording the interview session, verbal consent from the participants was requested and required. The semi‐structured interviews were conducted in English, and the duration ranged from 45 to 60 min. Interviews focused on CRC genetic testing (specifically PRS). At the beginning of each interview, a standardized script was read to participants which included: (1) interviewer introduction, (2) reminders about study confidentiality and voluntary participation, (3) the study's purpose and focus on PRS and CRC, and (4) a definition of PRS as “the individual's genetic predisposition or risk to a particular trait or disease, calculated by combining the effects of many genetic variants.” Participants were allowed to ask questions if they had any, after which verbal consent was obtained to start the audio recording. Participants were first asked, “What are your initial perceptions on CRC PRS testing as a provider?” Other example questions in the interview included, “What do you feel like you need as a provider to be able to make a clinical recommendation for PRS? What do you think would help motivate your Hispanic patients to get CRC PRS testing?” Please refer to Figure 1 for additional questions asked.

At the end of the interview, the audio was downloaded from Zoom and stored safely in Box. Audio files were sent to a professional transcription service, and transcripts were saved in Box. After completing the interview, study participants received a $100 electronic gift card within 1 week via email as compensation for their time, effort, and insight. The study protocol was reviewed and approved by the Institutional Review Board at Cedars‐Sinai Medical Center (Approval Number: MOD00006352), and all procedures were carried out in compliance with relevant guidelines and regulations.

2.3. Data analysis

For qualitative research, empirical data have shown that 9–17 interviews achieve data saturation of the themes, depending on the study population and research question (Hennink & Kaiser, 2022). In this study, data collection continued until 10 interviews with participants were conducted, at which point data saturation was achieved, and no new insights or information emerged from the 10th interview. Reflexive thematic analysis was utilized to analyze and code the transcripts to aid our understanding of participants' perceptions and insights (Braun & Clarke, 2006). A qualitative codebook was created to organize codes, emerging themes, and participant quotes. The primary author (SE) independently coded transcripts at a very general level and then segments of the transcripts were assigned codes based on emergent themes. To improve the rigor of the analysis, co‐authors utilized a method adapted from Glaser and Strauss' “Coding Consensus, Co‐occurrence, and Comparison” system (Glaser & Strauss, 2017). The analysis was an iterative process that included the co‐authors reviewing codes and themes to be included in the manuscript. During each meeting, similar codes and themes were discussed and additional codes were added to the codebook. Emerging themes were organized according to the levels of the SEM: individual, interpersonal, community, and organizational. Using the SEM to organize emerging themes helps identify the barriers and challenges that need to be addressed at each level regarding PRS in both healthcare and community settings.

2.4. Reflexivity and positionality

It is important to acknowledge one's reflexivity and positionality in this study (Darwin Holmes, 2020). The authors acknowledge their positionality stemming from their personal and professional experiences and commit to ongoing learning to better serve the diverse populations they serve. The primary purpose of these interviews was to better understand the perceptions of providers regarding PRS. However, while the interviewer (SE) discussed PRS at the beginning of the interview, participants and the interviewer would switch to the term CRC genetic testing or genetic testing. A review of the data revealed that the participants would sometimes refer to PRS as “genetic testing” as well. Participants also could have been confusing PRS with high‐risk, single‐gene cancer predisposition syndrome genetic testing. The confusion of PRS with genetic testing has been discussed in previous studies (Khera et al., 2018; Lewis et al., 2022; Schwarzerova et al., 2024). Despite the interchangeable use of PRS and genetic testing in interviews, this further emphasizes that PRS is complex and poorly understood among primary care providers.

3. RESULTS

3.1. Participant demographics

A total of 10 HCPs participated in this study. All participants identified as female, with a mean age of 44 years. The demographic data of providers is presented in Table 1.

TABLE 1.

Participant demographics (N = 10).

Gender
Female	100% (10)
Age
Mean	44
Range	30–63
	% (n)
Race/ethnicity
Hispanic	50% (5)
Non‐Hispanic White	40% (4)
Middle Eastern	10% (1)
Healthcare provider degree
Doctor of Medicine	10% (1)
Doctor of Osteopathic Medicine	40% (4)
Nurse Practitioner	20% (2)
Physician Assistant	20% (2)
Registered Nurse	10% (1)
Practice setting
Federally qualified health centers	70% (7)
Academic medical centers	30% (3)
Currently living and practicing in
California	50% (5)
Ohio	50% (5)

3.2. Levels and themes

The themes are organized according to the SEM levels: individual, interpersonal, community, and organizational. There are a total of seven themes, which are presented in Table 2.

TABLE 2.

Socioecological levels and themes.

Level	Theme
Individual	Lack of understanding about and low awareness of PRS testing in providers and patients
	Needing better education and guidelines for providers on PRS testing
Interpersonal	Leveraging motivation and strength in patients and communities
	Developing educationally relevant materials for patients
	Building trust takes time and empathy
Community	Partnership with community leaders and trusted members of the community
Organizational	Cross‐collaboration with other departments or specialists

3.2.1. Individual level factors

Theme 1: Lack of understanding about and low awareness of PRS testing in providers and patients

Participants were asked about PRS for CRC, and many of the providers were not aware of PRS testing. Six providers were unaware of PRS testing specifically for CRC or had minimal knowledge of it. However, some were familiar with general genetic testing for other cancers and would typically refer patients to a genetic counselor.

I was not fully aware of, I didn't even think of the possibility of doing genetic testing in our clinic for colorectal cancer. Like if you said genetic testing for breast cancer, I'd be like, ‘oh yes I understand’. We don't do PRS testing frequently or I just didn't think that that could be even possible. (Participant 4, NP)

I am not super familiar with that specific type of genetic testing for colon cancer, so it's not something that I order personally… I would rely on referring people to genetic counselors. (Participant 9, DO)

Although the majority of providers referenced a lack of knowledge about PRS testing specifically, they showed an openness in learning more about PRS and its benefits for their patients before making clinical recommendations. Overall, providers were supportive of genetic testing in general because they recognize its potential to prevent and help assess the risk of cancer.

I'm really for [genetic testing]. I think it's another way to try to make patients feel more at ease. Some patients just want to rule it out for themselves and see if they carry the genes that can possibly, um, give them or will be able, will develop at one point in their life cancer. If there's ways to prevent it, then why not? (Participant 1, PA)

As a primary care provider, I sometimes don't think enough about genetic testing or even risk scores and what can be prompted for primary care settings…but I want to learn what I can do or how I can better my knowledge and help my patients. (Participant 10, DO)

Numerous providers reported that their patients are not being adequately informed about genetic testing in general. Another provider mentioned that their patients do not receive enough health information or awareness about the importance or availability of PRS testing.

Some patients don't even understand the need for, um, CRC screening period. They might not even be familiar with genetic testing or PRS. If they're not familiar with it, or know where to go or what to ask, they won't do it. (Participant 4, NP)

So, I think if we could educate people and just let them know that there's this option, and they might need it, I think it's a – I think it could save lives. (Participant 2, DO)

Theme 2: Needing more education and awareness of guidelines for providers on PRS testing

When asked about their professional needs, providers expressed a desire for more training and education on PRS testing, along with additional scientific research to inform future clinical use and benefits for patients. This would boost their confidence in recommending and promoting genetic testing. Their motivation appeared to stem from both internal and external factors that would help them deliver higher quality care. For example, most providers reported they have information not only for their patients but also to stay better informed about CRC PRS testing.

We need to know, first of all, if this specific testing would be more relevant in the Latinx community. That would be good to know and be helpful for both primary practitioners and the patients. (Participant 2, DO)

As long as I have, you know, the scientific background or, you know, the support, and credibility, all of those things. I feel that I would be able to influence, as long as I'm very upfront about the benefits. (Participant 5, RN)

So, I think having very clear guidelines about who should have testing is easy because it makes it easy for me to say, ‘You should get this’. And then also having clear recommendations to be able to explain to the patient about why they should have it. That's helpful also. (Participant 9, DO)

Participants emphasized the importance of further educating primary care providers about PRS, as patients see them most often. They also requested accessible educational material for themselves to help them understand and communicate PRS concepts to their patients.

Educating providers and letting them know the current efforts around PRS. I mean, I do think educating primary care doctors would be good because we're the ones the patients see the most and we're the ones that patients trust. (Participant 9, DO)

We need something informative like, um, a pamphlet. Like an article that we could read to learn more. Something that's been sifted through the data and makes it easier for the primary doctor to like, um, you know…this is what [PRS testing] is. This is how it is. (Participant 7, DO)

3.2.2. Interpersonal level factors

Theme 3: Leveraging motivation and strength from patients and their communities

Participants described how families work together to navigate health decisions. Leveraging family and community members can be a helpful strategy to motivate and encourage patients and community members to learn about genetic testing. Most providers have said that family members play a crucial role in the health and care of patients. Hereditary testing differs from PRS, but one participant shares an experience that highlights how family involvement is critical to making health decisions.

So, on more than one – on many occasions [patients] will bring the – the whole clan, the whole family members in, to learn together, to sit around the board table together and understand the value of hereditary testing and who else in the family needs to be tested. (Participant 3, NP)

I think family members can make a difference, you know. Like maybe if one family member has done genetic testing for CRC and it wasn't a big deal for them or helped them in some way, then they could influence their other family members. (Participant 2, DO)

Family is the key, and telling their family that they want to live longer, create more memories, be healthier, and not suffer can sometimes help as a motivator to make better, healthy choices. (Participant 10, DO)

One participant reflected that understanding what is important to this community is vital.

At the end it's just, you need to get to know these people to understand what is important for them and what works for them. (Participant 8, MD)

Theme 4: Developing relevant materials for patients

Many providers cited creating materials that were inclusive and relevant to the population, and having data that would be easy to understand would be a factor that could impact their patients' decision to utilize PRS testing.

I think something that's inclusive that someone can see, you know, if you're looking at a pamphlet that you see people that you identify with. Um, and I think probably also just like having some statistics of different populations of different cancers that might be impacting them more than others possibly could be helpful. (Participant 6, PA)

Another provider mentioned that if possible, disaggregated data in these materials would also be helpful, as they recognize different people have unique experiences:

I guess if I had more information of a breakdown, and specifically for Latinx because Puerto Rican patients are different than South American than Central. Like a tool or a bar graph or something or a pie chart or something that I could say like a breakdown of the Latinx, but I don't know if there's such a thing. (Participant 10, DO)

The same provider that mentioned creating inclusive material also said to be mindful about making Hispanic patients feel like they are exclusively at risk so that they do not feel further stigmatized:

Cause, you know, someone could look at that and see their own individual risk and say, “Oh, wow. You know, I'm a higher risk than I thought I was.” Uh, but I could also see that being kind of detrimental, too. Because we don't want to like stigmatize if there's a certain higher percentage of certain communities. (Participant 6, PA)

Theme 5: Building trust takes time and empathy

All providers cited trust as a component in providing better care and for patients to feel more comfortable with the idea of PRS testing. Better quality time during appointments and having cultural humility as a provider can help build trust within a patient–provider relationship. Providers spoke about the high mistrust that exists with their patients due to the historical events where patients were treated as test subjects in the medical and research field. A provider responded that patients may feel vulnerable due to cultural and language differences:

There is a lot of mistrust which is totally understandable. They are totally vulnerable. The language is different. Most of their doctors don't look like them. Don't even speak like them. (Participant 8, MD)

Most providers believe that having the time, spending more time, and being intentional during appointments would help address patients' concerns if PRS testing were to be clinically recommended. A provider reported that the healthcare system needs to focus more on the quality of care versus the quantity of care:

I think it just would be the time that we have to see a patient because 20 min for some patients is not a lot, and just explaining genetic testing could be 20 min alone or any questions that they have. I think healthcare in the whole nation has to be revamped in how we, you know, it's not the quantity, it should be the quality, and some patients need that 40 min or whatever to discuss not only their diabetes but what other concerns they may have about genetic testing. (Participant 10, DO)

In addition to spending quality time, all providers emphasized that showing genuine empathy, respect, and understanding toward patients and their healthcare decisions can help build rapport and establish trust.

Any type of genetics counseling…there's got to be an extra level or layer of empathy and connection, you know? Yeah. And you think that – that empathy or that level of empathy should also be included when it comes to like, genetic testing for colorectal cancer? (Participant 5, RN)

Communication between providers and patients. I think that is key to open the door for them to be willing to do it, right? Because basically we are asking them to give us a piece of their most personal and vulnerable piece of their life… (Participant 8, MD)

3.2.3. Community level factors

Theme 6: Partnership with community leaders and trusted members of the community

One provider discussed eventually partnering with community‐based organizations or community leaders to help spread awareness about the importance of PRS testing:

They have a lot of programming that focuses on the people who live in our community. And so, I think partnering with those kinds of organizations within these communities could be helpful because they are close knit. And reaching out to community leaders within those communities who are going to reach a lot of people because they are close‐knit. A lot of people know a lot of people just because of the way that those communities interact with each other, and they value those connections. (Participant 9, DO)

Certain providers considered bringing in community health workers (CHWs) also known as promotores in promoting genetic testing in general because patients are more likely to listen and trust the information they share.

We have promotores, they are community members, who hold a role of also educating the patients on resources, from being able to get to the doctor, helping them make appointments. They will communicate it to the patients and the patients trust them since they're also part of the community and they're Spanish speaking. (Participant 1, PA)

3.2.4. Organizational level factors

Theme 7: Cross‐collaboration with other departments or specialists

The majority of providers shared concerns regarding the inadequacy of existing workflow and collaboration processes across various departments, which can negatively impact the quality of care, patient experience, and ability to promote genetic testing, specifically PRS testing. Providers shared their need for better workflow and collaboration among other departments to improve patient care and experience.

It would be nice to have a department that has a little bit more information or to have a geneticist, or so they could go better prepared to ask questions or possibilities of what else they would be doing at the geneticist appointment. (Participant 1, PA)

Like, maybe there's places or people who specialize in genetic counseling. So, I think that would be helpful for the providers to just kind of know also what's the best place to send the patients or what to order. (Participant 2, DO)

A provider also mentioned the importance of communicating and educating the care team on recommended PRS testing guidelines so that they are well‐informed. By doing so, the care team will be better equipped to provide optimal care for CRC genetic testing to their patients and ensure that the appropriate measures are taken.

Because when staff is educated, they help facilitate everything. They can even pick up on red flags. Or they can know why we're asking these questions and ask them more consistently because they know the importance of doing it…so, I think really education around, like providers, like everyone. (Participant 6, PA)

4. DISCUSSION

Our findings shed light on the multilevel challenges and factors related to PRS in primary care settings, including a lack of training and education on PRS, insufficient evidence‐based research, and the complexity of PRS itself. Previous studies have analyzed the views of primary care providers regarding genetic testing of high‐risk genes (Dron et al., 2023; Haga et al., 2019; Hamilton et al., 2016). However, our study is unique in that we focused on low‐risk variants summarized as PRS and explored the perspectives of HCPs who serve diverse populations in a primary care setting.

Our findings also revealed a lack of understanding regarding the difference between PRS and currently available genetic testing for pathogenic variants in high‐risk genes. PRS testing and traditional genetic testing of high‐risk cancer predisposition genes can be confused or conflated despite their distinct methodologies and applications (Schwarzerova et al., 2024). This misunderstanding occurs among HCPs, patients, and even some researchers (Schwarzerova et al., 2024). This misunderstanding was noted in our study among health professionals and providers who do not specialize or have expertise in genetics. The confusion typically occurs because both approaches involve analyzing genetic information to assess disease risk (Abu‐El‐Haija et al., 2023; Khera et al., 2018). Traditional genetic testing usually focuses on identifying relatively rare pathogenic variants in highly and moderately penetrant cancer predisposition genes, while PRS considers the cumulative effect of many common genetic variants, each with a small influence on risk (Abu‐El‐Haija et al., 2023; Khera et al., 2018). Although participants had low awareness and knowledge, they still expressed a willingness to learn more about PRS. These findings demonstrate providers' openness to expanding their understanding about PRS, dependent upon their patients' benefits, clear evidence‐based guidelines, and more training and education. It is critical to clarify these differences to ensure proper implementation, interpretation, and communication of results. Addressing any misunderstandings is particularly important as PRS technology advances and approaches clinical application, as it will impact how healthcare professionals advise patients and make clinical decisions based on genetic information.

At the individual level, providers in our study indicated having low levels of knowledge and understanding of PRS testing, which may impact access to care in cancer prevention and screening. Findings also revealed a lack of education and training on CRC genetic testing as providers expressed a need for more guidelines, strategies, and training to promote genetic testing to their patients comfortably, corroborating results from past studies (Hauser et al., 2018; Pasquier et al., 2022). Currently, recommendations from the ACMG do not suggest the clinical implementation of PRS testing unless both the provider and patient have a clear understanding of the benefits, risks, and limitations specific to the patient (Abu‐El‐Haija et al., 2023). The limited awareness of PRS testing among HCPs is understandable, given its current absence from routine primary care practice. This emphasizes the importance of improving genetic literacy among nongenetics HCPs as the integration of genetics into care is likely to continue to advance. Additionally, it highlights the lag between new scientific discoveries and their application in medical care (Blanchard, 2023). Therefore, it is essential to consider specialized training and education programs during medical school and residency to enhance physicians' knowledge and capability in discussing and navigating CRC genetic testing services (Blazer et al., 2011). This can potentially improve providers' knowledge and better equip them with skills and resources to educate patients about PRS CRC genetic testing.

The HCPs interviewed expressed a desire for improved collaboration with and access to genetic counseling and services. This highlights an opportunity to foster interdisciplinary relationships that can better serve patients in need. Some populations often face significant barriers in accessing cancer genetics services despite potentially having a greater need for these valuable resources. Genetic counseling and testing for hereditary cancer syndromes are frequently centered at academic medical centers due to their specialized expertise and emphasis on research (Shaibi et al., 2020; Sharma et al., 2021). This focus, while beneficial for advancing the field, unintentionally creates disparities in access to these critical services. Federally Qualified Health Centers and community clinics often lack these specialized services due to limited resources. This disparity in access can lead to delayed diagnoses and missed opportunities for preventive care (Guo et al., 2014; Hauser et al., 2018; Suckiel et al., 2022). Ultimately, the poorer health outcomes experienced due to a lack of access emphasize the need to tackle this healthcare inequity.

At the interpersonal level, leveraging motivation and strength in patients and their communities was identified. For communities that place a strong emphasis on family values, or “familism,” which can impact overall health decisions and outcomes (Diaz & Niño, 2019; Ricker et al., 2018). As such, any approach or care plan should carefully consider the cultural values of the patient and their family. Additionally, while information on PRS is available online, the complexities of understanding PRS can be challenging for patients. Creating a patient‐friendly brochure or pamphlet should still be considered, as it would make this information more accessible for patients to understand and make informed decisions with their HCPs. A variety of communication methods using easy‐to‐understand information for both HCPs and patients can bridge the health literacy gap and effectively encourage the utilization of CRC genetic testing with PRS once standard guidance and evidence are provided. In terms of strategies at an interpersonal level, it is important for HCPs to continue to build trust with their patients and invest in spending quality time. Providers reveal that being culturally sensitive and practicing cultural humility are effective ways to strengthen patient relationships and foster trust. This task can be difficult because HCPs often have limited time with patients due to other responsibilities. Therefore, developing streamlined PRS messaging tools and evidence‐based PRS communication strategies that providers can easily adopt becomes essential. HCPs who spend quality time addressing all patient concerns and empathizing with them can increase the likelihood of their patients becoming interested in genetic testing as a preventive measure (Saulsberry & Terry, 2013).

At the community level, providers share the importance of partnering and collaborating with community leaders and trusted individuals in the community. Specifically, CHWs or promotores were identified as essential collaborators in coordinating care and advancing health equity. CHWs can be recognized as an integral part of the healthcare team, and act as advocates or mediators between community members and the healthcare system (Phalen & Paradis, 2015). Educating and raising awareness about CRC genetic testing requires the involvement of multiple individuals from diverse backgrounds and fields of expertise, including genetic counselors. There have been numerous successful efforts to provide education about cancer genetics for CHWs/promotores in the setting of high‐risk hereditary breast cancer predisposition that can serve as a model for broader cancer genetics education that could be focused on CRC, as well as PRS education in the future (Almeida et al., 2021; Perez et al., 2023; Vadaparampil et al., 2021).

Some of the insights shared by providers in our study align with existing research on the multifaceted barriers experienced by some communities and patients, expressing the lack of quality and time during medical appointments, linguistic barriers, lack of insurance, and cost barriers (Escobedo et al., 2023; Hamilton et al., 2016; Nadeem, 2022). An understanding of the unique barriers providers and patients experience can impact how we develop solutions and strategies to improve care, services, and treatment. In situations where extending appointment times is not possible due to organizational regulations or “productivity” goals, HCPs strive to enhance the quality of care by showing empathy and being responsive. Being responsive can come from the language and messaging during the appointments and health materials emphasizing the importance of family and prevention.

Lastly, at the organizational level, providers expressed a need for improved cross‐communication among care teams and access to genetics specialists. This finding corroborates another study that suggests that it is essential to adopt a systemic approach that involves a multidisciplinary team or network to optimize patient care (Pasquier et al., 2022). PRS has the potential to create more targeted screening protocols, open up discussions on lifestyle modifications with patients, and help providers prioritize preventive interventions for patients at higher risk (Andreoli et al., 2025; Lewis et al., 2022; Slunecka et al., 2021). It should also be noted that there was insufficient data to identify emerging themes for policy‐level factors that could be incorporated. Several providers have identified insurance‐related obstacles that may pose difficulties for patients in obtaining genetic testing for CRC, primarily due to affordability concerns. These challenges may arise due to the high cost of the test or insufficient coverage by insurance providers. Nonetheless, these concerns may potentially deter patients from accessing CRC genetic testing, which is essential for the early detection and treatment of the disease.

Actively engaging primary care providers who serve specific high‐risk communities is a crucial step toward improving these tools. Accurate genetic risk prediction requires not just technical improvements in PRS testing but also careful consideration of how these tools are implemented in various clinical settings (Kachuri et al., 2024; Martin et al., 2019). Understanding providers' perspectives and needs can inform strategies to overcome barriers to implementation while ensuring that genetic risk information is delivered in appropriate ways that consider the context.

5. LIMITATIONS

Our findings may not represent the whole experience of HCPs, and therefore, results may not be widely generalizable. Some providers were selected through snowball sampling, where providers who participated were asked to recommend colleagues who might be interested or eligible. All study providers identify as female. In future studies, it would be essential to recruit a heterogeneous range of participants, including individuals of various genders. Additionally, a larger sample size of primary care providers and oncology practitioners should be recruited to improve representation. Lastly, as we discussed in our reflexivity statement, our interviewer used PRS testing interchangeably with genetic testing. As a research team, we believe it is critical to acknowledge this terminological ambiguity that emerged during the study. Future protocols will establish consistent terminology usage throughout the interview process. While the interchangeable use of terms occurred on both the interviewer's and interviewees' parts, this confusion itself is revealing. It still highlights that PRS, as a concept, is not yet well understood or differentiated from traditional genetic testing in the primary care setting. Despite this limitation, this finding aligns with existing studies that have found HCPs to be generally unfamiliar with the meaning of PRS (Ayoub et al., 2023; Lapointe et al., 2022).

6. CONCLUSION

Despite the current lack of evidence‐based clinical guidance for PRS and its utility, this study reveals the multilevel perceptions and strategies that will be instrumental for HCPs and CRC PRS implementation in the future. Providers expressed support for PRS testing for CRC but noted challenges, including a lack of understanding and low awareness of PRS, as well as time constraints on their end. Furthermore, HCPs shared their needs to provide the most effective CRC prevention and care. This included a streamlined process for referring patients to CRC genetic counseling and testing, as well as improved education and guidelines enabling them to inform their patients better. Lastly, we learned essential strategies that healthcare organizations and providers can use to promote genetic testing. These include rebuilding trust with patients by being more empathetic and spending more time with them, sharing information through relevant educational materials, and leveraging motivation in patients by emphasizing the value of family. A critical challenge is proving the clinical utility of PRS through comprehensive research before clinical implementation. By working closely with providers who understand their communities' needs, we can work toward ensuring that advances in genetic risk prediction benefit all populations. This study provides valuable insights for healthcare organizations, providers, genetic counselors, public health professionals, researchers, and care teams regarding the critical considerations and factors that influence genetic education, testing, access, and care for improved CRC prevention and outcomes.

AUTHOR CONTRIBUTIONS

Shenazar Esmundo contributed to the conceptualization of this study, formal analysis, visualization, writing and reviewing the original draft and confirms that she had full access to all the data in the study and took responsibility for the integrity of the data and the accuracy of the data analysis. Nathalie T. Nguyen and Jane C. Figueiredo contributed to the investigation, project administration, supervision, writing and editing of the original draft. Nenette Caceres, Charité Ricker, Gregory E. Idos, Nicole C. Loroña, Yelba Castellon‐Lopez, Stephanie L. Schmit, Cathy D. Meade, and Clement K. Gwede contributed to the review and editing of the original draft. All authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

CONFLICT OF INTEREST STATEMENT

Shenazar Esmundo, Nenette Caceres, Charité Ricker, Gregory E. Idos, Nicole C. Loroña, Yelba Castellon‐Lopez, Stephanie L. Schmit, Cathy D. Meade, Clement K. Gwede, Nathalie T. Nguyen and Jane C. Figueiredo have no conflict of interest. Jane C. Figueiredo and Stephanie L. Schmit have received funding from the U.S. National Institutes of Health during the conduct of the study.

ETHICS STATEMENT

Human studies and informed consent: The study was approved by the institutional review board of Cedars‐Sinai Medical Center. No informed consent was required from subjects as data were anonymously extracted from Redcap. All procedures followed were in accordance with US Federal Policy for the Protection of Human Subjects.

Animal studies: No nonhuman animal studies were conducted by the authors of this study.

Esmundo, S. , Caceres, N. , Ricker, C. , Idos, G. E. , Loroña, N. C. , Castellon‐Lopez, Y. , Schmit, S. L. , Meade, C. D. , Gwede, C. K. , Nguyen, N. T. , & Figueiredo, J. C. (2025). Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study. Journal of Genetic Counseling, 34, e70135. 10.1002/jgc4.70135

DATA AVAILABILITY STATEMENT

Data are available on request from the authors.