Qualitative assessment of primary care providers’ attitudes toward genetic services and genetics education

Abstract

As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs’ attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis. The identified themes fell into the following topics: perceptions of genetics, PCPs’ roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs’ educational needs regarding genetics. The most common perception of genetics was for the indication of personal or family history of cancer. PCPs’ self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Participants were divided in their opinion as to whether they should order genetic tests. PCP’s education needs fell into four main categories: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions, with a particular emphasis on cancer. While PCPs expressed an interest in further genetics education, they also questioned the applicability of genetics to their practice. The information obtained in this study can help inform the development of successful education activities and programs in genetics for PCPs.

Introduction

The expanding use of genetics and genomics in medicine, combined with the scarcity of genetics providers (Jenkins et al. 2021), has led to primary care providers (PCPs) taking on an increasing role in genetics in the United States (US). PCPs represent a diverse group of health care providers, and “are often the first point of contact for patients seeking medical care and play a vital role in preventive care, early detection and treatment of diseases, management of chronic conditions, and acute care in both inpatient and outpatient settings” (HRSA Health Workforce 2023). In the US, clinical specialists that provide primary care include family medicine, internal medicine, geriatrics, and pediatrics (HRSA Health Workforce 2023).

PCPs in the US endorse the need to integrate genetics into their practices (French et al. 2023; Hansen et al. 2024). Furthermore, some patients who might benefit from a referral to genetics express a preference to be managed in their primary care setting (Schwartz et al. 2024). The role of the PCPs in genetics includes the collection of family history information, initiation of genetic testing for some genetic conditions, recognition of the need for referral of patients to genetics providers, and co-management of patients with genetic conditions (Hull et al. 2020). Some PCPs order some genetics tests as well (Seibel et al. 2022; Truong et al. 2021). However, PCPs’ knowledge about genetics remains less than optimal and PCPs report that they feel unprepared to address the genetics needs of their patients (French et al. 2023; Gates et al. 2022; Haga et al. 2019; Hauser et al. 2018; Seibel et al. 2022; Sharma et al. 2021; Truong et al. 2021).

While genetics education may be helpful in preparing PCPs to integrate genetics into their practices, a 2019 survey of recent US medical school graduates indicated significantly lower quality of training related to genetics, and lower perceived understanding of genetics, compared with non-genetics topics (Haspel et al. 2021). In a separate survey, less than half of PCPs reported that they had received training in genetics (Sharma et al. 2021). While most pediatricians agreed that additional training in basic genetics would be helpful (Gates et al. 2022), many PCPs feel that the complexity of genetics is a barrier to education (Falah et al. 2022). Some PCPs believe that genetic testing is of limited utility (Falah et al. 2022; Hauser et al. 2018), or that genetics is related to rare disease and therefore is not an area of interest for PCPs (Falah et al. 2022). While there has been an increase in genetics and genomics education during medical school in the US, this does not necessarily translate into increased comfort with genetics in clinical practice (French et al. 2023), with recent medical students indicating a lack of integration of genetics into their clinical experiences (Kapur et al. 2024).

Thus, PCPs indicate that incorporation of genetics into their practice is relevant and that they would benefit from training specific to clinical genetics topics (Hansen et al. 2024). While it is generally accepted that there is a need for better genetics education for PCPs, little is known about PCPs’ preferences regarding a genetics curriculum targeted to them. In a survey of pediatric residents, participants reported an interest in some genetic education topics, including the indications and limitations of genetic testing, the logistics of genetic testing, and pre- and post-test counseling with patients and family members (Gates et al. 2022).

The purpose of this qualitative study was to explore PCPs’ experiences with genetics, attitudes about their role in genetics, and their perspective on genetics training for PCPs in order to inform the development of educational strategies that may improve PCP comfort with genetics in their practice. Because of its impact on healthcare providers’ behavior and subsequently on patient health (Osei-Twum et al. 2022), we specifically asked participants about their thoughts on the Extension of Community Healthcare Outcomes (Project ECHO) approach to continuing medical education (Arora et al. 2007).

Materials and methods

This study was approved by the Emory University Institutional Review Board. Informed consent was obtained from all participants.

A qualitative approach using semi-structured interviews was selected. Based on a review of the literature regarding the integration of genetics into primary care practice, we developed the following five-question facilitator’s guide.

1. When you hear about genetics, what do you think of?

2. What do you think is a PCP’s role is in genetics?

3. What are your experiences in genetics/genomics in primary care?

4. What topics do you think a useful genetics education program should include?

5. Project ECHO is a continuing medical education developed by the University of New Mexico. An ECHO program includes a series of one-hour online sessions. Each session consists of a short lecture by a genetics expert, followed by questions and answers. Then a participant will present a case for discussion with the experts and fellow participants. Does this sound like an approach that would be good for genetics education for PCPs? Why or why not?

We sent recruitment emails to PCPs in four states (Georgia, Louisiana, South Carolina, and Tennessee) in the Southeast Regional Genetics Network (SERN) region. Given the challenge in recruiting PCPs into research studies, we targeted PCPs who might have an interest in genetics by emailing PCPs who had referred one or more patients to a genetics clinic in the past year (n = 157), as well as PCPs in Georgia known to the Medical Nutrition Therapy for Prevention (MNT4P) program to have one or more patient in their practice with an inherited metabolic disorder (n = 49). PCPs were eligible to participate if they were licensed to practice medicine in one of the four states and saw at least ten patients per week. Data collection was discontinued when no additional participants were forthcoming from our recruitment population.

The semi-structured interviews were conducted by two authors (SI and AR) via web-based videoconference. Interviews were recorded and transcribed (AK). Two coders (YT and CC) independently coded the transcripts using MAXQDA software. Initial codes were based on published literature pertaining to the topic, and codes were adapted and refined based on interview content. The two coders were trained in public health, and both gained some familiarity with genetics by working with the senior author’s program in the Emory University Department of Human Genetics. The interviewers and first author have all studied and/or worked in the field of clinical genetics, and it is through this lens that data were collected and interpreted. Thematic analysis was conducted, along with post-hoc quantitative content analysis (AK) to quantify the qualitative findings from open-ended questions. Specifically, participants were categorized as to whether or not they reported barriers to making patient referrals to genetics services. Regarding whether or not PCPs should order genetic tests themselves, responses were categorized as yes, no, or sometimes. To look for potential correlation between barriers to referrals and belief about PCPs ordering genetic tests, we cross-tabulated the frequencies from these two variables.

Results

We conducted semi-structured interviews with PCPs practicing in the southeastern United States to collect qualitative data about their perceptions of the role of PCPs in genetics and the educational needs of PCPs regarding genetic referrals and genetic testing. Recruitment emails were sent to 208 PCPs in four states. Seventeen PCPs indicated an interest in participating in the study and nine completed the interview. The characteristics of the nine interviewees are presented in Table 1.

Table 1.

Characteristics of study participants (N = 9)

Credentials, n (%)
MD	8 (89%)
NP	1 (11%)
State, n (%)
Georgia	8 (89%)
Tennessee	1 (11%)
Gender, n (%)
Female	8 (89%)
Male	1 (11%)
Race/Ethnicity, n (%)
Hispanic/Latino	2 (22%)
Asian	4 (44%)
White, not Hispanic/Latino	3 (33%)
Age in years, mean (range)	43.5 (32–66)
Specialty, n (%)
Pediatrics	2 (22%)
Family practice	6 (67%)
Internal medicine	1 (11%)
Number of referrals to genetics in past year, mean (range)	5.6 (2–15)
Number of genetic tests ordered in past year, n (%)
None	5 (56%)
1–5	3 (33%)
> 5	1 (11%)

The identified themes fell into the following topics: perceptions of genetics, PCPs’ roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs’ educational needs regarding genetics. We present details of each theme below, with illustrative quotes from study participants.

Perceptions of genetics

When we asked PCPs what they thought of when they heard the word genetics, the most common response was cancer. Other topics mentioned were family history, inherited metabolic disorders, prenatal screening, predisposition to disease, syndromes, and ethnicity.

Syndromes, any kind of clustering, are what make me think of genetics for my patients. Or multiple family members with a certain type of cancer. Or the pattern that we might see together like colorectal, ovarian, and breast, which is in line with syndromes. And then also we see prenatal visits with genetic screening and having to explain to patients what that does and does not do. (family practice provider).

How it interacts with my practice is mostly related to like screening for cancers, but we also have, because we are at an academic institution, we also have folks who have a genetic disorder as well that see the genetics department. So like metabolic diseases, or like inborn errors or glycogen storage disorders and what not. So, that happens a lot less frequently. But I also have patients that need referrals for those types of things. But I say by far and large, genetics in terms of like primary care is more so screening for potential genetic disorders, Most notably cancer disorders. (family practice provider).

PCPs’ roles in genetics

PCPs self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Recognition of the need for referral was further explored in related themes below.

Education of families included describing prenatal screening, explaining the limitations of direct-to-consumer genetic testing, and facilitating newborn screening follow-up while helping to keep the parent calm during the testing and waiting period.

I would say our main role in primary care is to identify potential patterns, and then referring them to the appropriate specialists for workup. (family practice provider)

I would say that our biggest role is to identify a potential need. (family practice provider)

My role as the primary care provider has historically been if there is an abnormal [newborn] screen is helping them to get to the geneticist or genetic counsellor for further eval, and then be the sounding board for hopefully helping the families understand what to anticipate is going to happen with their child while we’re doing what we’re doing. (pediatrics provider).

I guess we play a part by making sure that the family is aware, and making sure that the family gets the [newborn screening follow-up] blood work done. (pediatrics provider)

Common reasons for referrals to genetic services

The most commonly-mentioned reason for referral was personal or family history of cancer. Other reasons for referral mentioned by more than one participant were follow-up for patients with inherited metabolic disorders and cascade testing. Finally, hypercholesterolemia, developmental delay, dysmorphology, and carrier screening for Ashkenazi Jewish patients were each mentioned by one participant.

Cancer is the main thing. I can’t, at least for my practice, I can’t think of anything else. (internal medicine provider)

Do I know when [to refer]? I think there’s a fine art to it. You don’t want to overwhelm or try to send every patient. (family practice provider)

So, I’ve had patients that have had like relatives who’ve had genetic disorders, and so a lot of parents come in and they’re concerned that their kid might have it and they want them to get genetically tested. (pediatrics provider).

Barriers to referrals to genetic services

Seven of the nine participants reported barriers to making patient referrals to genetics services. Barriers to referral to genetic services fell into three categories: system barriers, provider barriers, and patient barriers. System barriers included long wait times and the logistics of making a referral. Provider barriers included lack of knowledge about when to refer. Patient barriers included fear, insurance, time, cost, effort, health literacy limitations, and social determinants of health.

Trying to figure out how to put it in in a timely way so that the referral department gets it, and then the patient gets notified. That’s the barrier. I know you guys are there. Yeah, I sometimes have issues accessing you in a timely manner, and then the patients confuse whether they should call, or you’ll call, or who should call. (family practice provider).

Well, I think first is overcoming my own reticence to say, okay this is really a genetic issue, and is it worth the time and effort to send this patient there? I noticed that sometimes some of the insurance companies are approving the consult, and once there, sometimes I’ve never seen them paying up for the genetic testing very well which can be pretty expensive. (family practice provider).

So, I think one of the barriers would be actual patient social determinants of health, and education, and like sort of health literacy, just depending on the sort of population that you’re treating. (internal medicine provider).

Genetic tests ordered by PCPs

Regarding whether PCPs should order genetic tests themselves, the participants had varying opinions: four said no, three said sometimes, and two said yes. To determine whether or not barriers to referrals were correlated with beliefs about PCPs ordering genetic tests, we compared the categorization of these two variables. Of the four participants who said that PCPs should not order genetic testing, two stated that PCP education was the main barrier to genetic test ordering and two stated that there were no barriers.

I haven’t. I mean, I’m too petrified. Because when I see those panels, I’m like I’ll send them to Dr. X. I know she does a good job. I don’t have the expertise. I would have to spend a measurable amount of time to decipher what this means, and so I don’t feel that it will be safe. (family practice provider).

Three participants said that PCPs should sometimes order genetic tests, and the genetic tests that they believed could be ordered by PCPs included chromosomes, BRCA1/2, hemochromatosis, and cascade testing.

It just depends. There’s such a wide spectrum in terms of even within primary care what we feel comfortable with doing. (family practice provider)

I’ve ordered BRCA testing personally, and then the hemochromatosis mutation testing. Those are the big ones that I’ve done in the last few years that I can think of. (family practice provider).

I have ordered just basic chromosomes, like for a baby in a newborn nursery. We’ll occasionally have a newborn that will come into our office that may have some features that may be concerning for Down syndrome or trisomy 21. (pediatrics provider).

Two participants believed that PCPs should order genetic tests, although the caveat of “with guidance” was given. One cited long wait times for genetics referrals as the reason that PCPs should order genetic tests themselves.

Just because genetic referrals take forever, but I don’t necessarily know what to order, and I would probably need some guidance there. (pediatrics provider)

PCPs’ educational needs regarding genetics

PCP’s education needs fell into four main categories which were mentioned by most participants: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions. Regarding how and when to refer to genetic services, PCPs were specifically interested in cancer, dysmorphology, cardiac indications, other indications for adult referral, and re-referral of patients that have already been to genetics in the past. Interpretation of genetic tests included understanding genetic test results and interpreting direct-to-consumer tests results. Most participants expressed an interest in basic genetics and recent advances in genetics. PCPs also were interested in learning about their role in co-managing patients with genetic conditions.

In addition to these four main categories, one or more participant also mentioned the desire for education about communication with patients, patient experiences with genetics clinics, benefits of genetic testing (ie, impact on management), preconception panels, when a genetics providers would want a PCP to order a microarray or other genetic tests, and resources for PCPs.

I do think it would be helpful to know what diseases would benefit from genetic testing and going back to what’s going to change management, what’s going to actually impact the patient and potentially improve their mortality and morbidity. But having it be in a short talk that can be consolidated, and something that we can reference would be helpful. I would probably say, what is something that at least from my point of view, what are some adult diagnoses, like genetic diagnoses, that we might miss in childhood that would still warrant genetic testing for and potential treatment for, and what those are, and how we would be able to test for it and then potentially manage it? (family practice provider).

Communication, yeah. Exactly like how to communicate that with a patient, like goal, you know, how to move forward with this. I think something else that would be helpful would be just a basic overview of the tests that are ordered by genetics. What sort of like high-risk populations we need to watch out for, and have, you know, a greater risk, a greater degree of suspicion to refer to genetics. I think that’s it, I think mainly just like how to get the conversation started. If you decide as a PCP to go ahead and can be you know, kind of lead that talk with a patient. (internal medicine provider).

Patients always want to know what can I expect? So it would be helpful just to know kind of broad overview, every case is different, of when those are for familial like genetic syndromes or things of the nature or what that counseling might look like or even what the testing might be – is it saliva or a blood test. And sometimes that patients get really in the weeds, and then yeah I guess the basic counseling component. (family practice provider).

Finally, we described the Project ECHO approach to participants and asked about their thoughts on the program. PCPs thought that the approach would be best if linked to direct care and if continuing medical education (CME) units were provided. Web-based videoconferencing was viewed as a convenient means of training, and the combination of didactic sessions with interactive discussion was a familiar model of education for PCPs. Most participants believed that training would make them more comfortable with genetics. However, there were concerns about the utility of spending time learning about genetics considering that genetic conditions are rare.

So, for me, in the model of education where we do didactics and then you ask questions, so that’s just a model that’s used. Always, I’m asking the speaker, hey I have this case or this or that, so we have it tied back to actual patient care. Also, make sure that it links back directly to primary care because sometimes presentations will touch on epidemiology and all these other things to kind of get into another aspect, and at the end of the day you have this patient in front of me and what do we want to do, how do we counsel, what’s going to be our next step, and having that ability to have an open forum to discuss because everybody’s seen different patients throughout everything. It just allows for that collaboration, so then with nothing other than recognition saying yeah that worked well, so it seems like an okay model for me. (family practice provider).

I think just you know, identifying what the genetic screening entails, and just presenting a case might be helpful, because then, you know, if we see something like that, we might identify it is something that needs to be, you know, screened or whatever. I think that would be helpful. (family practice provider).

Discussion

In our semi-structured interviews of nine PCPs, several themes were identified which have implications for the development of genetics training programs. The first few themes focus on the role of PCPs in genetic medicine, specifically the recognition of need for referral to genetic services and the ability to educate families about genetics. The former role is hampered by lack of knowledge about when to refer patients to genetics specialists (Presutti et al. 2024; Truong et al. 2021). The latter role requires a knowledge of basic genetics and test interpretation, as well as comfort discussing these topics with patients.

The PCPs in this study were not in agreement about whether they should order genetic tests themselves. Various factors may influence their decision, such as comfort with interpretation of test results, accessibility of genetics providers, and barriers to making a referral to genetics. This is consistent with findings of recent studies on the practices of PCPs related to genetic testing and genetic referrals (Seibel et al. 2022; Truong et al. 2021). In terms of educational needs, our study participants focused on how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions. How to order a genetic test was not mentioned, so it is possible that the participants who believe that PCPs should order genetic tests are already comfortable with the process. On the other hand, interpretation of genetic test results was included as a topic of educational need, and may be relevant to both those who do and do not order genetic tests themselves.

PCPs come from a variety of backgrounds, with differing patient populations and different comfort levels with genetics, so designing a one-size-fits-all genetics training program for PCPs may be problematic. Therefore, instead of a single course where participants are expected to attend every session in the series, a program could consist of stand-alone topics, allowing participants to attend only the topics of interest to them. On the other hand, participants in the training program may choose only the topics that they believe are of importance to them and may therefore miss opportunities to learn about other topics that may impact their patient population. The PCPs in this study who see adult patients tended to focus on cancer as a topic they wanted to learn more about, but there are other genetic indications that also are important to their patient populations which warrant genetics evaluations, such as cardiomyopathy, hyperlipidemia, early-onset hearing loss, hematologic conditions associated with excessive bleeding or excessive clotting, and other indications previously described by the American College of Medical Genetics (Pletcher et al. 2007). Because of the competing demands on their time, it will be important to target PCPs with topics they are interested in while also stimulating interest in other topics.

Despite the general consensus that PCPs need to play an increasing role in the genetics care of their patients, some participants question the utility of training in genetics, perceiving genetic conditions as rare and therefore not relevant to their practice. Thus, marketing of courses and development of course curricula need to focus on the clinical utility of genetics in primary care. Clinical utility of genetics can be demonstrated to continuing medical education participants by interactive, case-based learning. This is a specific feature of the Project ECHO approach (Arora et al. 2007). We asked our study participants about their thoughts of Project ECHO as a model for a genetics training program. The participants responded that this approach would be a comfortable model of training for them, and that online videoconferencing platforms would make the program convenient. Recorded sessions could form the basis of a reference library that PCPs could refer to again in the future when the need arises. Study participants also emphasized the importance of providing CME credit for the genetic training to help make it a worthwhile use of their time.

Genetics education alone, however, is not enough to address all of the concerns of PCPs. Other barriers highlighted by the PCPs in this study echo those previously reported in the literature, and include the difficulty accessing genetics experts, concerns about insurance discrimination for patients, and patient concerns (e.g., cost, travel burden, fear) (French et al. 2023; Hauser et al. 2018; Presutti et al. 2024; Seibel et al. 2022; Truong et al. 2021). Some of these concerns can be addressed in a continuing medical education program, while others would require additional strategies. Medical students have reported a need for more integration of genetics into their clinical experiences (Kapur et al. 2024). Another strategy is the incorporation of Genetic Counselors into primary care settings, where they can improve quality of care related to genetics, by collecting family history data from patients, communicating with and educating patients about genetics, helping to identify patients in need of genetics services, and facilitating communication with specialty genetics clinics (Borle et al. 2023).

There are several important limitations to this study. Most participants were from the state of Georgia, so it is not clear if the results are generalizable to PCPs in other states. We sent recruitment emails to PCPs whom we thought would have an interest in genetics (i.e., those who have recently referred at least one patient to genetic services, or who were known to have at least one patient with a genetic condition in their practice), which may also limit generalizability. Furthermore, those with an interest in genetics may have been more likely to participate, introducing more bias into the study population. The study group was relatively small, and the quantitative results lack enough power to be anything more than suggestive of trends. Combined with the diversity of providers in the study sample, the small sample size also limited our ability to reach data saturation. Finally, while the diversity of the study group led to the provision of data on a wide breadth of perceptions and experience, it also limits interpretation about specific types of primary care providers.

In conclusion, there is a growing need for PCPs to understand at least basic genetics to provide optimal care for their patients. The ability to recognize patients who would benefit from a referral to genetic services, and the ability to answer basic questions about genetics for patients, are part of the role that PCPs see for themselves. There are differing opinions about whether PCPs should order genetic tests themselves. Increased opportunities for genetics education for PCPs, with a particular focus on clinical utility and case-based learning, could increase their knowledge of and comfort with genetics in primary care.

Author contributions

Conceptualization: A.K., Y.T., R.H.S.; Data curation: Y.T., S.I., A.R.; Formal analysis: A.K., Y.T., C.C.; Funding acquisition: R.H.S.; Methodology: A.K.; Project administration: A.K., Y.T.; writing-original draft: A.K.; Writing-review & editing: A.K., Y.T., C.C., S.I., A.R., R.H.S.

Funding

This publication was supported by the Southeast Regional Genetics Network (SERN), which is funded by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $600,000 with zero percent financed with non-governmental sources (5UH7MC30772-06–00). The contents are those of the authors and do not necessarily represent the official views of, nor an endorsement by, HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov.

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request, subject to the requirements of the sharing institution.

Declarations

Competing interests

The authors declare no competing interests.