Characterizing healthcare provider experiences delivering genomic testing in a Federally Qualified Health Center

Abstract

Background

To maximize the potential benefits of genomic medicine for all, it is crucial to research and support the delivery of genomic medicine in under-researched healthcare settings.

Methods

This project investigated experiences of healthcare providers caring for low-resourced patients in a Federally Qualified Health Center in Phoenix, Arizona (FQHC) using a mixed-methods, cross-sectional case study. Interviews were conducted with 14 healthcare providers working in a FQHC, involved with delivering genomic testing (specifically, polygenic risk scores [PRS] and monogenic testing) to patients enrolled in the electronic Medical Records and Genomics (eMERGE) network, specifically the eMERGE IV study.

Results

Providers expressed a general confidence in genomic testing in practice. Quantitatively, most providers expressed confidence in communicating genomic test results to patients. However, qualitative findings emphasize time constraints, insufficient training, lack of human resources, and concerns for follow-up care and financial barriers, which are pronounced in FQHC settings.

Conclusions

The potential of genomic testing to improve patient outcomes is strong, but system-level support for providers is necessary to strive towards sustainable and equitable implementation of genomic medicine, particularly in FQHC and other under-resourced primary care settings.

Plain Language Summary

Disparities remain in accesibiity to genetic testing among underrepresented racial and ethnic minority groups within under-resources healthcare setting. To better understand the potential benefits and impact genomic testing can have in diverse primary care settings, we interviewed healthcare providers about their experience caring for Latino patients who previously received genomic testing in a Federally Qualified Health Center, in Phoenix, Arizona. We found that providers feel a general sense of confidence when communicating with patients about genomic medicine. Providers mentioned the presence of time, training, and resource constrains witin their clinical setting that impacted their experience with delivering genomic testing. This highlights the need for more sustainable and equitable implementation of genomic testing within under-resourced healthcare settings serving underrepresented racial and ethinic minority populations.

Gur-Arie et al., investigate the experiences of healthcare providers delivering genomic testing to primarily Latino patients in a Federally Qualified Health Center in Phoenix, Arizona (FQHC). Findings indicated that healthcare providers felt a general sense of confidence when delivering genomic testing to patients despite constraints related to time, training, and resources.

Introduction

Implementing genomic medicine in primary care settings addresses concerns about health care disparities in the context of access to genomic medicine¹. However, most genomic medicine research occurs in large academic medical centers and health systems, leaving its potential translation to primary care settings under researched^2,3, and impact on underserved communities largely unknown. Furthermore, the underrepresentation of racial and ethnic minority groups in genetic research may further limit the generalizabiliy and translational potential of genomic medicine research to improve health outcomes for all⁴. For example, polygenic risk scores (PRS) are largely tested in individuals with European ancestry, potentially limiting their application to non-European populations and exacerbating health disparities⁵. A growing body of research is focused on genomic testing implementation in non-European ancestral groups^2–4.

To maximize the potential benefits of genomic medicine for all, it is crucial to research and support the delivery of genomic testing in under-researched healthcare settings like federally qualified health centers (FQHCs). Federally Qualified Health Centers are nonprofit health centers that serve all patients regardless of insurance status or financial ability to pay for care and receive federal grants to offset the care that is not able to be reimbursed⁶. In 2022, FQHCs served ten percent of the patient population in the United States⁶. Patients who receive care at FQHCs often face challenges in obtaining primary health care, like inability to obtain health insurance, not able to afford the cost, and low health literacy. The unique needs of patients who receive care at FQHCs pose additional social determinants of health challenges to the integration of genomic medicine and testing in FQHCs^6,7.

There has been growing research of healthcare provider experiences delivering genomic medicine^8,9, but limited research on provider experiences delivering genomic medicine in the primary care setting. Specifically, characterizing healthcare providers’ experiences caring for low-resourced patients receiving genomic testing in a FQHC is an ideal case study to further explore these aforementioned areas of research through bioethics and capacity-building frameworks. Healthcare providers are extensions of healthcare settings and systems which they work within, and there is a heightened need to capture and conceptualize nuanced, in-depth accounts of their experiences serving individuals in an FQHC. Ethical inquiry has focused on understanding ‘the patient’ and their experiences in receiving genomic testing^10–12, leaving a need to investigate healthcare providers’ perspectives, and build capacity to support them in their practice. Healthcare providers working in FQHCs and delivering genomic testing to low-resourced patients are a crucial and unique population to understand and investigate if genomic testingis to reach to all individuals who can benefit. Accordingly, this project investigated experiences of healthcare providers at an FQHC caring for patients enrolled in eMERGE IV, the fourth phase of the electronic Medical Records and Genomics (eMERGE) network, which aims to deliver genomic testing results to patients and assess uptake of care recommendations. Overall, providers reported feeling confident in their ability to deliver the intervention, all while relayin three major themes from their interviews. The three major themes that emerged were the unique context of a FQHC, providers’ perceptions of genomic testing, and health systems management of genomic testing implementation. Understanding provider experiences delivering genomic testing to low-resourced populations in primary care is critical to ensure that genomic testing benefits all patient populations, not only well-resourced populations under specialist care.

Methods

eMERGE network

The electronic MEdical Records and GEnomics (eMERGE) network is a national consortium funded by the National Human Genome Research Institute to support the implementation of genomic medicine. The network is comprised of ten academic clinical sites, one academic coordinating center, and thirteen clinical recruitment sites that prioritized enrollment of participants from populations that are underrepresented in genomic research to ensure diverse representation in the sample¹¹. In its 4^th phase, the goal of eMERGE IV was to calculate and return genomic testing, family history, and clinical risk assessments to 25,000 participants in clinical practices and assess uptake of care recommendations after return of results¹¹. Examples of PRS returned as part of eMERGE IV include coronary heart disease (CHD), diabetes, obesity, and chronic kidney disease (CKD).

This project, nestled within eMERGE IV, focused on the sole FQHC included as a clinical recruitment site and emphasizes the clinical setting, social determinants, and normative influences that impact how healthcare providers understand and operationalize their professional obligations to patients and the healthcare system.

Study location

Data collection occurred at an FQHC located in Phoenix, Arizona that provides primary-care services to over 100,000 patients across eleven clinical sites, with 89.7% of its patient population being racial/ethnic minorities (71.6% are Hispanic/Latino, 13.2% are African American, 2.6% are Asian or Hawaiian/Pacific Islander, and 1% are American Indian/Alaska Native).

Study design

This project was a mixed-methods, cross-sectional case study of healthcare providers working within a FQHC involved with delivering genomic testing (specifically, polygenic risk scores [PRS] and monogenic testing) to patients enrolled in eMERGE IV¹³. Providers had varied levels of experience delivering genomic medicine in the past, with most having no experience at all. The eMERGE research coordination team at the FQHC provided training materials as directed by eMERGE IV, and regularly addressed questions that providers raised during monthly clinic-wide meetings. A purposive sample of 17 healthcare providers with experience delivering genomic testing to patients at the FQHC were contacted, and 14 were ultimately recruited (see Table 1, Sample Demographics, and Table 2, Individual Participant Profiles). Upon recruitment, participants completed a brief knowledge, attitudes, and practices (KAP) survey (see Supplementary Materials) titled “Healthcare Provider Experiences with Implementing Genomic Medicine in a FQHC” before beginning to interview. The survey was administered to describe interviewees and contextualize interviews. The survey was administered online via the Research Electronic Data Capture (REDCap) web application^14,15. Providers had a range of patients who participated in the eMERGE study, and the survey question about reviewing the GIRA report referred to whether they had discussed it with any of their patients, not necessarily all. The survery asked about challenges or barriers in instances where they did not or could not review the report. Thus, while all providers reviewed the GIRA report with at least one patient, some encountered situations where they were unable to do so with others. Additionally, this project did not track the number of GIRA reports providers had received at the time of survey/interview; that was beyond the scope project design. Recruitment of providers occurred after the a provider had an experience delivering genomic medicine during our project period. Accordingly, each provider had varied amounts of experience doing so leading up to the point of recruitment, survey, and interview.

Table 1.

Codebook for Qualitative Analysis of Provider Interviews

Occupation	PRS
Physician	Understanding-Providers
Physician Assistant	Understanding-Patients
Nurse Practitioner	Utility-Providers
Years Working	Utility-Patients
Tensions	Burden-Providers
In Care Decision-Making (Providers)	Burden-Patients
In Care Decision-Making (Patients)	Impact on Decision-Making for Providers
In logic	Impact on Decision-making for Patients
Regarding Genomic Medicine	FQHC-specific
Organizational	Diversity of patients
Healthcare System Influences	Challenges
Lack of Financial Resources	Strenghs/positives
Lack of Time to Deliver Care	Diveristy of providers
Lack of Sick Leave	Resources
Staffing Shortage	Trade offs
FQHC	Cost-benefit Analysis
Perceived Health Literacy	Time and Resources
Patients	Prevention vs Treatment
Provider Perspective of Patient	Values
Trust	Providing Best Possible Care
In Providers	Going Above and Beyond for the Patient
In PRS	Individual Choice
In Research	Informed Decision-making
In MPHC	Motivations to Work in Community Health/FQHC
In Healthcare Broadly

Table 2.

Sample Demographics

N	14 (%)
Sex
Female, n (%)	12 (85.7)
Male, n (%)	2 (14.3)
Age, Ma (SDb) range	38 (14.1) 26–69
Race, n (%)
American Indian or Alaska Native	0
Asian	2 (14.3)
Native Hawaiian or Pacific Islander	0
White	9 (64.3)
Other (Middle Eastern)	1 (7.1)
Type of Provider, n (%)
Physician	2 (14.3)
Nurse Practitioner	5 (35.7)
Physician Assistant	7 (50)
Total years working, M (SD) range	6.6 (11.1) 4 months–40 years
Years Working at FQHC, M (SD) range	3.5 (4.6) 4 months–16 years

^aM Median.

^bSD Standard Deviation.

Interviews with healthcare providers were conducted using an interview guide (see Supplementary Materials) with questions aimed at understanding provider experiences caring for patients genomic testing in an FQHC and how the integration of genomic testing in their patient care impacted their professional obligations to patients, colleagues, and their community. Additionally, the interview guide helped understand healthcare provider’s views on the intervention’s utility and their ability to communicate with their patients regarding topics and question on genomic medicine. Follow-up questions were focused on social and systematic determinants that potentially contributed to ethical dilemmas, occupational burdens, and impacts onmorality, in addition to focusing on normative factors (i.e., professional duties of healthcare providers, ethics principles and values, notions of professional burden and moral injury, social determinants of health, and the sensitivity surrounding delivery sensitive genomic medical information), and how they relate to ethically training and supporting healthcare providers in FQHCs.

Participants were recruited within six weeks of delivering genomic test results to a patient. Recruitment and data collection occurred from December 2023 through June 2024. Data analysis occurred from July 2024 through December 2024. Recorded interviews were professionally transcribed.

Human subjects approvals

Approval for conducting the research study were obtained from the Arizona State University Institutional Review Board (IRB; STUDY00018783), which served as the single IRB of record for the study. The eMERGE Network, in which this study is nestled, operates under the Vanderbilt University Medical Center IRB. All participants provided verbal consent before initiating the interview and interviews were audio recorded.

Data analysis

The study team adapted Corbin and Strauss’ grounded theory approach¹⁶ to code the interview transcripts using Nvivo software according to a previously designed and iteratively updated codebook (see Table 1). Three out of the 14 interviews were double coded by different team members to ensure consistency in the application of our codebook and theoretical saturation. Most of the NVivo analysis process followed the following process: (1) created master matrix table to identify high volumes of coding references utilizing all provider codes; (2) reviewed references associated with provider interviews and identified quotes regarding clinical implication and experiences with genomic testing; (3) smaller matrices were then established by identifying one main code to cross reference with others, based on identified areas pre-reviewed from the master matrix; (4) quotes were then organized based on highlighted matrix themes (5) matrices were saved in NVivo and incorporated into manuscript preparation.

Results

Participant demographics

Providers who participated in this study (N = 14) were predominantly female (85.7%) with an average age of 38 years (range: 26–69). Most providers identified as White (64.3%), with smaller representation from Asian (14.3%) and Middle Eastern (7.1%) backgrounds, and 14.3% identified as Hispanic or Latino. Half of the participants were physician assistants, followed by nurse practitioners (35.7%) and physicians (14.3%). On average, providers had 6.6 years of total work experience and had been at the FQHC for 3.5 years. Table 2 Tables displays the Sample Demographics and Table 3 displays Individual Participant Profiles.

Table 3.

Individual Participant Profiles

Provider	Sex	Age Range (Years)	Race	Ethnicity	Type of Provider	Total Years Working (Range)	Years Working at FQHC (Range)
1	Female	50–59	Asian		Nurse Practitioner	1–3	1–3
2	Female	20–29	White		Physician Assistant	1–3	1–3
3	Female	20–29	White		Physician Assistant	1–3	1–3
4	Female	30–39	White		Nurse Practitioner	4–7	4–7
5	Female	50–59	White		Nurse Practitioner	13+	4–7
6	Female	40–49	Asian		Physician	8–12	8–12
7	Female	30–39	White		Nurse Practitioner	4–7	4–7
8	Female	20–29	White		Physician Assistant	<1	<1
9	Female	20–29		Hispanic or Latino	Physician Assistant	1–3	1–3
10	Male	60–69	Other (Middle Eastern)		Physician	13+	13+
11	Female	20–29	White		Physician Assistant	<1	<1
12	Female	20–29	White		Physician Assistant	<1	<1
13	Female	50–59	White		Nurse Practitioner	1–3	1–3
14	Male	20–29		Hispanic or Latino	Physician Assistant	<1	<1

Results of KAP survey and qualitative interviews

Of the 14 providers who were interviewed, 12 (86%) completed the Healthcare Provider Experiences with Implementing Genomic Medicine in a FQHC survey (see Supplementary Materials). Table 4 displays the results of this survey. When asked about their confidence with PRS, half [6 (50%)] of the providers reported feeling somewhat confident in their knowledge of PRS. Furthermore, two-thirds of the providers expressed similar confidence regarding their ability to explain PRS results to their patients. Overall, 9 (75%) providers felt somewhat to very confident in their ability to make health recommendations for their patients based on the given PRS results. Genome Informed Risk Assessment (GIRA) reports inform patients if they are at high risk for any of the studied health conditions while also providing clinical recommendations for follow-up care^17,18. Half [6 (50%)] of the providers reported being able to understand the reports, while 8 (75%) providers felt the results were valuable for their patients’ medical care. Half [6 (50%)] of the providers reported that they were likely to act on the GIRA reports in their practice and that the recommendations do not affect their workflow. Only 1 (8.3%) provider was very confident that their patients will make healthcare changes based on the GIRA recommendations. Lastly, all 12 (100%) providers reported making recommendations to their patients based on the findings of the GIRA reports. Of the reasons for why providers didn’t review the GIRA report with their patients, lack of time, no changes to management of patients, and other (e.g. only if they were abnormal) were among the most frequent responses.

Table 4.

Participant Survey Results

Healthcare Provider Experiences with Implementing Genomic Medicine in a FQHC
N = 12
Did you review the GIRA reports with any of your patients?
YES n (%)	NO n (%)
12 (100%)	0
What prevented you from reviewing a GIRA report with any of your patients? Check all that apply.
						#
Lack of time						4
I get too many messages						1
I didn’t think it would be relevant						1
I didn’t think it would require changes in the management of my patient						3
I didn’t order it						2
I assumed the study staff were taking care of this						2
I didn’t know what it was						1
Other						4
A component of the GIRA is the polygenic risk score (PRS), which uses multiple genetic variants to assess a person’s risk of disease. In general, how confident are you…
						Not at all n (%)	A little n (%)	Somewhat n (%)	Very n (%)
…in your knowledge about PRS?						1 (8.3)	5 (41.6)	6 (50)	0
…in your ability to explain a PRS result to your patients?						0	3 (25)	8 (66.6)	1 (8.3)
…in your ability to make health care recommendations for your patients based on a PRS result?						0	3 (25)	5 (41.6)	4 (33.3)
After you reviewed the GIRA reports for your patients, how…
						Not at all n (%)	A little n (%)	Somewhat n (%)	Very n (%)
…understandable were the GIRA reports?						0	3 (25)	3 (25)	6 (50)
…valuable do you think the results on the GIRA report are for your patients’ medical care?						0	4 (33.3)	4 (33.3)	4 (33.3)
…does acting on the GIRA recommendations adversely affect your workflow?						6 (50)	5 (41.6)	1 (8.3)	0
… likely are you to act on the GIRA reports in your practice?						0	3 (25)	3 (25)	6 (50)
…likely will your patients make healthcare changes based on the GIRA recommendations?						0	7 (58.3)	4 (33.3)	1 (8.3)
Did you make any recommendations to your patients based on the findings from the GIRA reports? Recommendations could include order test/s, change treatment, and/or recommend lifestyle change.
YES n (%)	NO n (%)
12 (100%)	0

Three central themes emerged through analyzing provider interviews: the unique FQHC context, providers’ perceptions of genomic testing, and health systems management of genomic testing implementation. When relevant, after each quote, the type of genomic test the participant is referring to is listed.

The FQHC context

An FQHC is a primary care environment that is unique in many systematic ways due to funding structures and patient needs. Accordingly, time and resources as well as health literacy were repeatedly mentioned by providers when discussing how their care delivery at the FQHC impacted their experiences delivering genomic testing.

Time, Feeling Overwhelmed, and Need for Human Resources. FQHCs serve all community members, including underserved communities, regardless of insurance status or ability to pay. Accordingly, providers expressed how delivering PRS to patients during their appointments placed additional constraints on time in appointments:

I always feel there’s never enough time because I am one of those providers who would spend an hour with every single patient if I could. (PRS) (Provider 2)

A lot of our patients, especially in internal medicine, are very complex patients that have a lot of chronic conditions, and there are a lot of medicines, and it really makes the visits more complex, and it takes more time, you know, that’s probably the biggest challenge. (PRS) (Provider 4)

There’s never enough time, to the point where it is very stressful for everybody. (PRS) (Provider 5)

Nevertheless, providers mentioned in addition to time constraints, they were also often overwhelmed with information that genomic testing provides:

We’re just so like overwhelmed with information, and then when they told us, oh well if you’re there you know, if there’s a certain result, then there’s a 30-page packet of recommendations. It’s just like, really? I think turned a lot of us off. I have a lot of experience, and I just felt overwhelmed by it, but then, you know, I kind of let it go and had to take the time to figure it out. (PRS) (Provider 5)

Accordingly, providers often suggested that additional human resources like a genetic counselor and/or department focused on the delivery of genomic medicine could assist providers in overcoming their overwhelming feelings and aid in delivering care:

I think it would be helpful if we had a genetic counselor, or a genetics department that we could refer patients to, that could help with the explanations or recommendations. (PRS) (Provider 9)

Health Literacy. FQHC patients come from all backgrounds, experiences, and education levels. When providers were asked if they felt that their patients understood what genomic testing was, they overwhelmingly responded with a general statement on how they deal with varying levels of health literacy among their patients daily, not only as it relates to genomic testing:

I don’t know how some patients comprehend genomic medicine. We have patients who are unable to read. However, genomic medicine is the future, and I think it would be helpful to some patients. So that’s why I’m staying positive, and if I tell the patient, “I think receiving PRS will be positive”, the patient sees PRS as a good thing. (PRS) (Provider 10)

However, providers regularly distinguished between low levels of health literacy among their patients and their patients’ interest in genomic medicine. Providers expressed that despite being unsure if their patients fully understood what genomic testing was, patients expressed interest and sometimes even excitement about having the opportunity to receive genomic medicine testing:

Patients are interested, very interested (in PRS). My patients, even sometimes before I see the results, will receive a telephone encounter (from the FQHC), saying results are available. If I have a visit with the patient that day before I had even seen the results myself, before the document has gotten to me, if the patient was there, they’re like, “how was my genomic testing?” I’d say, “I have no idea, let’s look”. That has happened on more than one occasion, the patient is in the office and maybe I don’t have it yet, or I maybe I haven’t looked at it yet, and I’m like “I don’t know, let’s print it out, we’ll go through it together”, and they are very eager to know the results and to talk about them. (PRS) (Provider 2)

Providers’ perceptions of genomic testing

Most data collected on providers’ experiences delivering genomic testing at the FQHC focused on their overall views and feelings towards how they perceived genomic testing’s utility in their practice, as well as genomic test results’ potential impact on their clinical decision-making.

Perceived Utility. This data analysis characterizes providers’ perceived genomic testing utility in three categories: positive utility, indeterminant utility, or negative utility. It is important to note that some providers expressed views inclusive of positive, indeterminant, and negative utility towards genomic testing. For the purposes of analysis, data are presented according to these non-mutually exclusive categories.

Positive Utility. Providers expressed that the genomic testing was positively useful in their practice, compared to not utilizing genomic testing.

I have seen patients that won’t maybe tell me or maybe forget to tell me about maybe a cancer diagnosis in their family or something, which you think they would tell me about this, and then did PRS testing, and they’re like, “oh well, you know, I had a high risk of breast cancer in your family”. I had one patient particularly, he was like, “oh yeah my mom and my three sisters have all had breast cancer”, and I’m like, “you never told me this”, so I mean, I do think it’s also helpful in the sense of another way to kind of get their family history, you know, information. (PRS) (Provider 4)

I had one that was high risk for coronary artery disease, and she had like hypertension, and other stuff, but she’d never seen a cardiologist or anything, so, it was interesting because her cholesterol was pretty clean, it wasn’t high or anything, but I used it as motivation, because she hadn’t really been exercising, and she didn’t really eat that well, you should know that you have, I know that you are doing well now, but this is in your genetics, so it was an inspiration for her I think, she was more inclined to listen to what I had to say, but I ended up sending her to a cardiologist that was recommended, everything came out normal. (PRS) (Provider 12)

In one case, a provider explained how the genomic test result provided emotional reassurance to a patient who regularly asked for screening and tests due to her concerns stemming from her familial history of breast cancer:

We must keep doing the breast MRI and the ultrasound, because of her story and that’s what’s recommended, but like mentally and psychologically, we’re doing so much better because you are not constantly checking your breasts, because you had a clean genetic test, it’s reassuring.” (PRS) (Provider 12)

A provider expanded upon how, despite their patient receiving a positive monogenic result for PCSK9, follow-up care largely remained unchanged despite being referred to and seeing a cardiology for follow up:

I had two monogenic results with patients. One was the PCSK9 positivity, and she was in her 60 s, so it was something, and she had mild… so her cholesterol was fine, I’m also learning, the level was fine, but the patient definitely you know, she freaked out, because you know, we always say that it could be a risk factor for the heart, if anybody sees heart they freak. I sent her to a cardiologist, the cardiologist didn’t do anything, some of them we sent because they want more than it is necessary for them to feel OK… you know the more people say, the more providers say the same thing. (monogenic) (Provider 6)

Overall, providers did not report patient resistance to follow-up care plans resulting from genomic testing:

I did had a positive familial hypercholesterolemia, her cholesterol was actually fairly controlled, that might have not come up for a while in her lab work, so it was a recommendation for her to see a cardiologist, and to see a general counselor, so, I spoke with her, I brought her over, and I believe she’s on a statin now kind of preventive, and it went really well, she was very receptive to the screening that we found, and was really open to see a specialist for it, so that went well, otherwise I think I had other like positive risks for chronic kidney disease which I usually will schedule them with the dietician, and just kind of make sure we repeat their labs so there’s no concern of anything, we just kind of educate them on healthy life styles and things like that. (monogenic) (Provider 9)

Indeterminant Utility. Providers did not have strong feelings positively or negative towards genomic testing’s use in their practice:

I’ve not spoken to anyone who has put any sort of second thought, into this study, and they’ve said oh what was that again? And I say, oh it’s just a risk of obesity, be careful, and they are, oh yeah whatever, it’s not really, I don’t feel like it’s very impactful. (PRS) (Provider 3)

Providers regularly expressed that genomic test results told them what they already knew. In the following case, the patient had already been under the care of a prostate specialist when they received their genomic test result:

Many of our patients who are like, came positive for let’s say for some of these findings, we already have diagnosed it. For example, with the prostate. They’ll already be connected to a specialist, or we’re managing them ourselves, hypocholesterolemia, diabetes… I don’t know if it really changed my practice that much with them, we did some extra testing, but so far it hasn’t been anything that like found anything, you know, and so, I think the utility in my opinion, based on the very limited exposure that I had to it, would be pretty raw, I don’t foresee it like really impacting most decisions I make. (PRS) (Provider 7)

Negative Utility. Providers expressed that genomic testing negatively impacted, hindered, or added no additional value to their practice. One provider suggested that they would lean towards not ordering PRS in the first place given the unknowns surrounding how results and how patients might react:

I am very much so of the school of thought that I will not order genomic testing, if I am not going to do something about it… I have this patient who says: “I would never, ever. ever, ever get a colonoscopy, no matter what you do”, and I said “ok, can I convince you to get a stool test for colon cancer screening?” And we did it, and it came back positive. I told her the next step is a colonoscopy, and she said, “I told you I’d never do that”, and I said, “we would never know if you had colon cancer if you don’t”, and she said, “that’s fine”. And so now I have to consider, if this patient would never, ever follow through if the result [of the colonoscopy] is abnormal, I need to have the talk with them that I should not order it, unless they are willing to do something about it, so, that’s the one thing I don’t like: what if the patient doesn’t want to have a mammogram, what if they don’t want to have other additional screening tests? And now I just have this result that we do nothing with, and so, that’s the one flaw that I don’t really love about it, but I just must assume that the patient has gone into this knowing that additional testing might come up. (PRS) (Provider 2)

In this case, the genomic test utility is less directly tied to the genetic test result itself and more connected to the general preventive health discussions sparked by the genetic test result.

Health systems management of genomic testing implementation

This study was designed to characterize healthcare provider experiences delivering genomic testing in an FQHC to Latino patients, not to investigate genomic testing implementation. However, data analysis identified that providers’ experiences offer rich insights into health systems management and implementation implications of genomic testing, particularly at the FQHC and among low-resourced communities. Dominant themes included genomic testing’s influence on patient follow-up care (that the provider had to navigate) and unanticipated financial and insurance considerations that resulted from delivering genomic testing to patients.

Influence on Shared Decision-Making. Patients at the FQHC sometimes solely receive healthcare there. Results of genomic testing can complicate how providers are to provide follow-up care, or not, to patients, particularly if results suggest that that care is only offered outside of the FQHC. Providers regularly reported their commitment to practicing shared decision-making (tailored appropriately culturally and socially) with their patients. A provider reported that integrating genomic testing into this shared decision-making process was novel and posed unique challenges in their experience:

I would say like, I try to do my best shared decision making. I think I had someone the other day who’s had an increased risk of prostate cancer, and said his dad had prostate cancer, at what age, because you can be 95 and have prostate cancer, is that relevant or not? Oh, he’s in his sixties, ok this is relevant, you know being diagnosed with prostate cancer like in your sixties and that is your dad, so for sure, let’s order a prostate-specific antigen (PSA) test, keep an eye on it, you know, check for any issues with the urination. He said he has had no issues, it’s been helpful with that, in kind of solidifying reasoning for screenings, in that case. For prostate cancer, I am married to shared decision making. The patient asks me, “do you want me to take a PSA or not?” I explain what it is, and you know, what we were looking for, and so, it helps reinforce that”. (PRS) (Provider 14)

Financial and Insurance Considerations. FQHCs serve all patients regardless of insurance status or financial ability to pay for care. Providers reported that financial and insurance variables impacted their ability to provide follow-up care for patients, or not, regardless of genomic testing result:

I must do something about this, because I see it in the chart, and so, you know, now they must go to the specialist, and they have to spend hundreds of dollars to get extra testing done, and I don’t know that’s going to change their plan of care in the future. So, I mean, yeah, I can’t say that I could see myself using it, I think right now it just seems like a poor use of health care resources. (PRS) (Provider 7)

Recommendations made by GIRA reports based on their patients genomic test results can complicate how providers provide follow-up care when that care is offered outside of the FQHC. Some providers share how their shared decision making plays into effect here:

I do shared decision making with the patients. My personal opinion [that I share with the patient] is we only have to do this and this based on the genomic test result, just to see where you are at, because we have to keep an eye on it, but you know, what are your thoughts? You want to do it all? Know there’s a cost associated, maybe we don’t have to refer you to cardiology, because I can order a coronary calcium score, and those things, I think mostly I leave it out to the patient, because it’s their money, if I don’t think clinically it’s an emergency and most of the genetic stuff isn’t, then I just put it on the backburn. (PRS) (Provider 12)

That’s kind of the approach I have taken, that, you know, there’s going to be testing that’s done that I didn’t order, and the patient is going to do with that information what they will. My job is to inform them, offer next steps and guide them, and their job is to decide. They (the patients) are the medical decision-makers. I’m just here to inform, and so that’s kind of the attitude I have taken with it, and I think it’s been good, because no matter what, I have patients come in all the time and they’ll say “my specialist ordered something and they’ve never dealt with me”, and I’m now saddled with doing it anyways. If the patient trusts me enough to go over genomic test results and I trust them to decide what is best for them, given all the information, that’s the deal we have struck with our patients and I’m ok with that. (PRS) (Provider 2)

Concern about the need for prior authorizations before ordering genomic testing in the first place to be covered by insurance was expressed by a provider, with skepticism:

With the restrictions of the resources, and restriction of the insurance coverage, probably I won’t be like going aggressive in ordering genomic medicine, because everybody would need a prior authorization why are you ordering, and this probably would be denied, yeah, that’s my feeling. (PRS) (Provider 1)

Discussion

It is still very uncommon for genomic services to be offered in FQHCs and other primary care settings, despite their potential value to reduce health disparities among diverse populations^3,19. Prior research has investigated provider perspectives, attitudes, and experiences with genomic testing²⁰, suggesting an overall feeling among providers of unpreparededness. Accordingly, this mixed-methods study is one of the first to investigate healthcare provider experiences delivering genomic testing in a FQHC serving a primarily Latino patient population.

Mixed-methods analysis of findings offers a comprehensive understanding of provider perspectives on delivering genomic testing in a FQHC. Providers expressed a general confidence in reviewing genomic testing reports and genomic testing’s value to care. Quantitatively, a majority expressed confidence in using genomic testing and communicating results to patients. This aligns with qualitative themes where several providers expressed openness and sometimes positive perceived utility of genomic testing in their practice. Such perceived utility was prominent when the genomic testing results had a potential positive impact on the patient’s family system. This finding consistent with existing literature²⁰, and particularly powerful among the FQHC’s primarily Latino patient population where the familism is a core value²¹. However, this study’s findings emphasize time constraints, insufficient training, lack of human resources, and concerns for follow-up care and financial barriers, which are present across primary care settings and particularly pronounced in FQHC settings²². Such qualitative insights shed light on hesitation and uneven confidence seen in the quantitative data, particularly regarding the interpretation of genomic testing results. Time constraints are not unique to an FQHC setting, relative to other primary care environments, but they further exacerbate the challenges providers and patients face at a FQHC. Overall, while providers are generally open to genomic testing integration, their actual capacity to implement it is constrained by practical, infrastructural, and ethical challenges^23–25). Nevertheless, genomic test results consistently served as a productive generator of conversation between patient and provider, even if the conversation was not about the genetic test itself. This suggests potential in how genomic testing and other genetic tests may serve as a promising tool in the toolbox of primary care delivery, particularly to low-resourced communities. Accordingly, the importance of aligning educational efforts and system-level support for providers is necessary to strive towards sustainable and equitable implementation of genomic medicine.

Consistent with existing literature on genomic testing implementation^2–4,26, providers found it difficult to educate patients about genetic medical information as well as help patients navigate financial costs and implications of genomic testing³. Both patients and healthcare providers who have early negative interactions with genomic medicine may be deterred from utilizing it in the future^19,20,23,27.

Findings of this study are specifics to the context of the single FQHC and associated patient popilation where data were collected. Accordingly, the central limitation of results is their specificity to the context and time during which this study was conducted. Analysis and conclusions may be relevant to other FQHC and primary care settings but are not necessarily representative. This study was designed as a nestled study within eMERGE IV, a nation-wide study focused on clinical outcomes of genomic testing, not on healthcare provider implementation of genomic testing. Accordingly, findings of this work might be specific to the eMERGE IV context. Additionally, this study was not framed to comment on the experiences of healthcare providers delivering a specific type of genomic test result (for example, a diabetes PRS); conclusions of this study focus on the overall experience of providers delivering genomic testing, generally speaking. The study team recognizes that different genomic test results may be experienced differently in clinical care, and acknowledges that as a limitation of this work. Lastly, this research was conducted in the only FQHC participating in eMERGE IV, and is another reason why findings may not be generalizable to other FQHCs.

Investigating healthcare providers’ experiences delivering genomic testing in FQHCs—and primary care in general—could strengthen the translation of genetic testing and genomic research into clinical medicine and healthcare, strengthening the value of genomics for the broader public^28,29. This work serves as a strong justification for further research into provider and patient perspectives on clinical and public health genomics—particularly regarding the implementation of genomic testing in primary care settings that serve low-resourced communities.

Authors contributions

R.G.A., the Principal Investigator, conceptualized the project, designed and oversaw all study activities, led and oversaw manuscript conceptualization, development, and writing. R.Q. operated study activities (interviews, consenting, incentives, etc.), coded interview transcripts, and contributed to the development of this manuscript. V.H. facilitated participant recruitment, data collection, and contributed to manuscript preparation. C.G., liaison at the FQHC, facilitated communication and scheduling of interviews, contributed to manuscript preparation. A.N.W. managed study operations, reporting, and regulatory adherence. D.P.S. contributed to data collection and manuscript preparation. R.R.S. contributed to study conceptualization, oversaw grant management, and manuscript preparation. G.Q.S. contributed to study conceptualization, data collection, and contributed to manuscript preparation.

Peer review

Peer review information

Communications Medicine thanks Leigh Jackson and the other, anonymous, reviewer(s) for their contribution to the peer review of this work. A peer review file is available.

Data availability

Data from this study were collected and stored in a secure REDCap database. Data generated and analyzed are included in this article and supplementary materials. Further inquiries can be directed to the principal investigator and corresponding author, Rachel Gur-Arie.

Competing interests

The authors have no competing interest to declare.

Supplementary information

The online version contains supplementary material available at 10.1038/s43856-026-01579-6.