North Carolina primary care provider perspectives on expanded genomic screening in children

Abstract

Background

Expanding pediatric genomic screening beyond current newborn screening presents both opportunities and challenges to primary care providers. We are developing a novel paradigm called Age-Based Genomic Screening (ABGS), which will incorporate targeted genomic sequencing for select, highly actionable genetic conditions into routine care at relevant time-points throughout childhood.

Methods

We disseminated an electronic survey to family medicine and pediatric primary care clinicians in North Carolina to identify potential ABGS implementation determinants and strategies to address them. Survey items were modeled on constructs previously identified as important to genomic medicine and assessed perceived utility, benefits, barriers, and facilitators of implementing targeted genomic screening in pediatric primary care. Data were analyzed using descriptive statistics and content analysis, as appropriate.

Results

A total of 93 individuals completed the survey. Over 85% of respondents agreed that genomic screening was important and impactful in their patient care but about 30% lacked confidence in their ability to implement it in their practice. The most cited benefits of the ABGS program were related to readiness for implementation and the evidence, strength, and quality of the intervention. The most concerning barriers included cost for patients and available resources, with 87% and 75% of respondents having extreme or moderate concern for these barriers, respectively.

Conclusions

Our findings have implications both for the design of the ABGS pilot program and directions for future research in genomic implementation. In particular, the blueprint for the pilot program must include specific plans for ensuring primary care providers have the time and resources available for shared decision making with their patients about engaging in genomic screening.

Clinical trial registry

Clinical trial number: not applicable

Supplementary Information

The online version contains supplementary material available at 10.1186/s12920-025-02306-1.

Background

Applications of genomic testing in health care are rapidly proliferating. Availability of faster, more cost effective, and accurate testing – and growing public acceptance of its value – has resulted in efforts to incorporate genomic testing into public health screening programs, primarily focused during the newborn period and adulthood [1–8]. A growing body of literature assesses implementation in these settings [9–13] and the importance of engaging key participants (parents and providers) to provide information on strategies for successful implementation [14–17].

Researchers have developed several frameworks that can be applied in diverse settings to characterize implementation determinants used in genomic screening efforts. One example is the IGNITE Network’s Common Measures Working Group framework, which utilized the Consolidated Framework for Implementation Research (CFIR) to prioritize 10 constructs for the implementation of genomic medicine in clinical settings [18, 19]. Equally important to identifying implementation determinants is addressing them through implementation strategies. The Expert Recommendations for Implementing Change (ERIC) study used concept mapping to assess the feasibility and importance of various implementation strategies used to overcome implementation barriers, including those encountered in genomic medicine [20].

These frameworks, among others from implementation science, have helped to identify and address challenges of implementing ethical, patient-centered genomic screening in adult healthcare settings, as well as during the expansion of newborn screening [21]. Common challenges reported by providers participating in clinical genomic research include the enrollment and education of diverse populations, smooth integration of new processes into existing workflows, connecting patients to accessible follow-up genetics care, and a perceived lack of self-efficacy among providers to deliver genomic interventions [10, 22, 23]. Frequently identified implementation facilitators include the adaptability of the intervention, collaboration between the research and clinical teams, and the relative priority of the intervention particularly among enthusiastic clinical staff [10, 22, 23].

Although many implementation determinants from adult and newborn genomic screening programs have been identified in prior studies, less is understood about potential barriers and opportunities for novel approaches to genomic screening throughout childhood and adolescence [24]. Age Based Genomic Screening (ABGS) is a novel program under development in North Carolina (NC) that aims to incorporate targeted genomic sequencing during routine pediatric well child visits throughout childhood for a select number of highly actionable genetic conditions [25, 26]. ABGS is planned to supplement rather than replace the NC state newborn screening (NBS) program, which has been overseen by the NC Department of Health and Human Services since 1966. NBS is “designed to identify newborns at risk for rare and potentially fatal conditions that aren’t otherwise apparent at birth” where specific treatment can alter the course of disease. This screening differs by state, and in NC includes primarily metabolic conditions, along with other genetic conditions that have implications in the newborn period, such as sickle cell disease, cystic fibrosis, and severe combined immunodeficiency [27]. Alternatively, ABGS will be focused on genetic conditions that can become symptomatic during childhood. With a focus on disease risks that escalate after the newborn period but prior to adulthood, pediatric primary care is an ideal venue for implementation of the ABGS program.

Although the details of ABGS are still in development, the program will likely comprise 3 genomic testing panels offered to children at specific well child checks. Each panel will consist of genetic conditions with age of onset soon after the age of testing and actionable management options to ameliorate or prevent disease [25, 26]. The feasibility of the program will be tested in a pilot study designed through collaboration with researchers, pediatric primary care providers, specialty genetics providers, and community members. The goal of this study was to identify ABGS implementation determinants and potential strategies to address them during the planning phase of ABGS.

Methods

Overview

We conducted a survey of pediatric primary care providers across North Carolina (NC) regarding their perceived barriers and benefits to implementing routine, age-based genomic screening into primary care. The study protocol was reviewed by the Institutional Review Board of the Office of Human Research Ethics of the University of North Carolina and was determined to be exempt from Human Subjects Research Review.

Participants

Clinicians and practice managers employed in pediatric and family medicine clinics enrolled in the North Carolina Network Consortium (NCNC) were invited to participate. NCNC is a diverse, statewide consortium of providers, academic institutions, and patients whose mission is to address pressing questions related to the delivery of primary care health services and the management of primary care problems. An estimated 15% of primary care clinicians practicing in NC are enrolled in NCNC.

Enrollment procedures

Study enrollment took place from October 2023 to February 2024. Email invitations were sent to practice managers of clinics enrolled in NCNC, who were asked to forward the study invitation to all physicians and practice managers within their clinic. Up to two reminder email invitations were sent to non-responding clinics, defined as clinics from whom we received no survey results. The email invitation included a brief description of the study, a flyer providing additional study details, and a link to the survey in Qualtrics. Participants received a $20 gift card after completing the survey.

Survey instrument

A custom survey was developed for this study, included in supplementary files. Survey items were informed by the work of the IGNITE Network Common Measures Working Group and results from the ERIC study [18, 20]. IGNITE Network members across all funded genomic implementation projects (n = 23) identified high priority constructs using the Consolidated Framework for Implementation Research, an implementation science framework containing 39 constructs thought to be important determinants of implementation outcomes. Our survey items were developed to address the ten high priority constructs. Items assessed perceived barriers and benefits for implementing targeted genomic screening in pediatric primary care and potential strategies to overcome them. Members of our team pilot-tested the survey with primary care clinicians at two NCNC practices. These clinicians completed the survey then participated in a one-on-one interview with a research team member to provide feedback, which we incorporated prior to initiating data collection. Box 1 shows introductory information about ABGS that was shared with participants as part of the survey.

Respondents indicated their general perceptions of genomic screening through relative agreement with five statements reflecting constructs from the Characteristic of the Individual CFIR domain, with statements investigating specific constructs: Knowledge and Beliefs (three items) and Self-efficacy (two items). A brief paragraph explaining the goals of ABGS was provided (Box 1) followed by questions asking respondents to rate the degree of importance (high, medium, low, not at all) or concern (extremely, moderately, slightly, not at all) of potential benefits and barriers of the program, respectively. Nine potential benefits were included and represented CFIR domains Intervention, Inner Setting, and Outer Setting. Nine potential barriers were included and represented CFIR domains Intervention, Inner Setting, and Individuals’ characteristics (Fig. 1). Participants were invited to share additional insights regarding perceived barriers and benefits of genomic screening via free text.

Fig. 1.

CFIR domains and constructs represented by survey questions

Respondents were asked to rank four aspects of the ABGS program based on which would be most likely to influence the feasibility of implementing ABGS in their clinic. Eight implementation strategies were then presented, and respondents were asked to rate the degree to which each strategy may be helpful in the implementation of the AGBS program in the clinical setting on a Likert-type scale (very, somewhat, not very, or not at all helpful). The implementation strategies related to ERIC clusters Change Infrastructure, Train and Educate Stakeholders, Support Clinicians, Utilize Financial Strategies, Use Evaluative and Iterative Strategies, and Adapt and Tailor to Context (Fig. 2) [20]. Participants were invited to share additional insights regarding implementation strategies via free text.

Fig. 2.

ERIC clusters and strategies represented by survey questions

The following demographic information was collected from respondents: practice county, respondent role (practice manager, clinical care coordinator, physician, nurse practitioner, certified nurse midwife, physician assistant, other), age, race, ethnicity, and gender. Respondents that identified as a physician, nurse practitioner, physician assistant, or certified nurse midwife received additional questions regarding years of primary care practice, estimated number of pediatric patients they cared for per week, and experience (number of times) following up on abnormal newborn screening results. The latter question was included because we hypothesized that clinicians with more experience managing abnormal newborn screening results may be more receptive to the concept of aged based genomic screening in primary care.

Analysis

Quantitative data were analyzed using descriptive statistics. To analyze open text responses, we used directed content analysis, a deductive method that uses an existing theory to guide the initial coding of the data. Using the IGNITE constructs and ERIC strategies on which the survey was based, we developed an a priori codebook. Two coders independently coded the open text responses [28, 29]. Coding was compared and discrepancies were brought to the larger team for review. We then organized the coded material by code and reviewed the material to identify overarching themes [30]. Finally, through triangulation, we compared the closed- and open-ended survey responses, identifying where responses converged and complemented each other [31].

Results

Study participants

An invitation to participate was emailed to the 61 clinics enrolled in NCNC. A total of 93 individuals from 55 clinics completed the survey and were included in the analysis. Based on the way NCNC operates, study teams are not informed if the practice manager forwards the study email to their clinical team, or how many members comprise each clinical team at the time the study invitation is sent. Because of this, we could not calculate an accurate response rate for survey participants. Most respondents identified as women (62%) and as White (73%) (Table 1). Nearly 75% of respondents were physicians. 26% of respondents (n = 24) contributed free text responses in addition to completing the closed-ended survey questions.

Table 1.

Demographic characteristics

Characteristic	n(%)
Gender
Man	33 (36)
Woman	58 (62)
Transgender	1 (1)
Race/Ethnicity
White	68 (73)
Asian	16 (17)
Black or African American	7 (8)
Hispanic/Latino	4 (4)
Native Hawaiian or Other Pacific Islander	1 (1)
Prefer not to answer	3 (3)
NC Region
Coastal	8 (9)
Eastern	55 (59)
Central	17 (18)
Northern	9 (10)
Western	0 (0)
Multiple counties	2 (2)
Missing	2 (2)
Role in practice
Practice manager	4 (4)
Physician	69 (74)
Nurse practitioner	3 (3)
Physician Assistant	1 (1)
Other	12 (13)
Certified nurse midwife	2 (2)
Missing	2 (2)
Years practicing primary care
0-5 years	20 (22)
6-10 years	14 (15)
11-15 years	8 (9)
More than 15 years	33 (36)
Missing	18 (19)
Estimated number of pediatric patients cared for per week
5 or fewer	19 (20)
6-20	26 (28)
21-50	10 (11)
More than 50	20 (22)
Missing	18 (19)
Frequency of follow up on abnormal result for metabolic screen
Never	11 (12)
1-2 times	24 (26)
3-5 times	16 (17)
6+ times	24 (26)
Missing	18 (19)

General perceptions of genomic screening

Over 85% of respondents strongly or somewhat agreed that information generated by genomic screening is important for patient care and that genomic screening is relevant to their current clinical practice (Table 2). Fewer respondents were confident in discussing genomic screening with patients and using the results of genomic screening for patient care, with 32% and 41% strongly or somewhat disagreeing with each statement, respectively.

Table 2.

General perceptions of genomic screening in pediatric primary care

CFIR Domain- Construct	General Perceptions of Genomic screening	Strongly Agree n(%)	Somewhat Agree n(%)	Somewhat Disagree n(%)	Strongly Disagree n(%)	Missing n(%)
Individual characteristics- Knowledge and beliefs	The information generated by genomic screening is important for patient care.	55 (59)	33 (36)	2 (2)	1 (1)	2 (2)
	I believe that genomic screening is relevant to my current clinical practice.	44 (47)	38 (41)	9 (10)	0 (0)	2 (2)
	Genomic screening will improve my ability to care for patients.	40 (43)	40 (43)	10 (11)	1 (1)	2 (2)
Individual characteristics- Self efficacy	I am comfortable talking about genomic screening with my patients and their families.	19 (20)	42 (45)	17 (18)	13 (14)	2 (2)
	I am confident in my ability to use the results of genomic screening with my patients.	13 (14)	39 (42)	27 (29)	11 (12)	3 (3)

Perceived benefits of ABGS

The potential benefits of ABGS in the pediatric context rated as of high importance by the most number or survey respondents included providing patients access to medical experts when screening identifies a rare genetic condition and the opportunity to identify rare diseases prior to symptom onset with 86% and 84% of respondents ranking each benefit as highly important, respectively (Table 3). Improving outcomes for children on a population level and the potential to reduce disparities in recognition of genetic conditions were also viewed as key benefits with 79% and 71% of respondents ranking them highly important, respectively. In contrast, only 27% of respondents rated placing their practice at the forefront of innovations in pediatric medicine as a benefit of high importance.

Table 3.

Perceived benefits of ABGS

CFIR Domain	CFIR Construct	ABGS Benefits	High Importance n (%)	Medium Importance n (%)	Low or No Importance n (%)	Missing n (%)
Inner	Readiness for implementation- available resources	Providing my patients access to medical experts for follow up when screening identifies a rare genetic condition.	80 (86)	11 (12)	0 (0)	2 (2)
Intervention	Evidence strength/quality	Opportunity to identify rare diseases prior to symptom onset that can lead to prompt clinical intervention.	78 (84)	11 (12)	2 (2)	2 (2)
Outer	Patient needs/resources	Improving outcomes for pediatric patients on a population level.	73 (79)	15 (16)	2 (2)	3 (3)
Intervention	Relative advantage	Potential to reduce disparities in recognition of genetic conditions by screening all patients.	66 (71)	23 (25)	2 (2)	2 (2)
Intervention	Relative advantage	Increasing access to advanced screening for my patients.	53 (57)	31 (33)	7 (8)	2 (2)
Intervention	Relative advantage	Help me be more involved in the care of my patients with genetic diseases.	46 (50)	28 (30)	17 (18)	2 (2)
Intervention	Relative advantage	Potential to eliminate diagnostic evaluations for some patients with rare genetic diseases.	42 (45)	43 (46)	6 (7)	2 (2)
Outer	Patient needs/resources	Help my patients and their families learn more about how genetics affects health.	42 (45)	38 (41)	11 (12)	2 (2)
Outer	Peer pressure	Placing my practice at the forefront of innovations in pediatric medicine.	25 (27)	27 (29)	38 (41)	3 (3)

In the free text responses respondents included comments that fell within CFIR domains of Inner setting, Outer setting, Individual characteristics, and Intervention characteristics. Several free text responses mirrored the benefits identified in the quantitative results, including increasing patient access to medical experts and identifying rare diseases prior to symptom onset. For instance, one respondent said: “I agree that ABGS is needed and necessary in our clinics and am dedicated to work together to ensure that we are able to assist patients who may be interested.” Another respondent shared, “More and more parents ask us about genetic issues in their families. I think this [ABGS] could be a very helpful thing for our patients.” One respondent highlighted the importance of prevention: “ABGS could decrease long term costs by engaging in prevention.” Notably, there was some divergence among respondents who commented on the potential of ABGS to reduce health disparities. While one respondent commented, “Caring equally for underserved and rural and urban patients is a key benefit of the proposed program,” another respondent questioned if the proposed program would achieve this benefit: “Screening or offering to all patients is only one facet of reducing disparities in recognition. If you want to reduce the recognition disparity this should be more robust.”

Perceived barriers of ABGS

Approximately 87% of respondents were moderately or extremely concerned about the potential financial cost of ABGS for patients and their families (Table 4). Access to timely consultation with a genetic specialist was another commonly perceived barrier, with 75% of respondents identifying this to be of extreme or moderate concern. Respondents were less concerned about potential barriers related to lack of evidence, patient interest, or patient need with 68%, 75%, and 85% noting slight or no concern about these potential barriers, respectively.

Table 4.

Perceived barriers of ABGS

CFIR Domain	CFIR Construct	ABGS Barriers	Extremely Concerned n (%)	Moderately Concerned n (%)	Slightly or Not at all Concerned n (%)	Missing n (%)
Intervention	Cost	It could lead to significant financial cost for our patients and their families.	44 (47)	37 (40)	10 (11)	2 (2)
Inner	Readiness for implementation- available resources	Access to timely consultation with genetic specialists is inadequate.	42 (45)	28 (30)	21 (23)	2 (2)
Individuals	Knowledge/beliefs	It could lead to increased anxiety for our patients and their families.	33 (36)	26 (28)	32 (34)	2 (2)
Inner	Readiness for implementation- available resources	It would take too much provider time during well visits.	26 (28)	35 (38)	30 (32)	2 (2)
Inner	Implementation climate- compatibility	It will be difficult to incorporate into our existing clinic workflow.	16 (17)	28 (30)	47 (51)	2 (2)
Individuals	Self-efficacy	Our clinic providers would have limited confidence discussing it.	11 (12)	43 (46)	37 (40)	2 (2)
Intervention	Evidence strength/quality	The evidence is not strong enough to support it.	6 (7)	21 (23)	63 (68)	3 (3)
Individuals	Knowledge/beliefs	Our patients do not need it.	2 (2)	10 (11)	79 (85)	2 (2)
Individuals	Knowledge/beliefs	Our patients would not be interested in it.	1 (1)	19 (20)	70 (75)	3 (2)

Free text responses describing barriers fell within CFIR domains of Outer setting, Inner setting, Individuals’ characteristics, and Intervention characteristics. Similar to the quantitative results, concerns over time were apparent in the free text responses, as exemplified in the following: “Our well child visits are already overburdened; preventive care is not reimbursed adequately enough to allow us to spend more than 15 minutes with our patients and we already have more things to cover than we have time for so it’s hard to imagine adding another thing to counsel, test, and communicate about.” Another respondent shared, “We already have a lot of other things ongoing in our practice (all of which are ‘valuable’). Fitting in ‘one more thing’ is the problem.” Another wrote, “Well child checks have become increasingly busy, and time is limited.” How the ABGS program will impact populations differentially was also referenced as an important barrier: “Implementing this testing assumes everyone has equal access, no cost burden in an anti-racist system. Sickle cell is the best example of a disease easily identified but poorly treated because of discrimination,” and “Patients with limited numeracy and literacy will face specific challenges to interpretation, as will patients who speak languages other than English.” One respondent brought up a concern not represented in our survey questions related to the long-term cost to the patient: “One barrier is what if the patient has future health/life insurance denied due to the screening results?”

ABGS- feasibility

About one third of respondents (34%) ranked specimen collection manner as the most important ABGS feasibility priority, followed by comprehensiveness of supporting materials and resources (27%). The number of different time points at which ABGS would be offered and the ability to receive reimbursement for time spent counseling families about genomic screening were each ranked as the highest feasibility priority by 14% of respondents.

ABGS- implementation strategies

The implementation strategy identified as very helpful by the highest number of survey respondents (82%) was giving providers succinct information materials about ABGS (Table 5). A direct point of contact to the research team for potentially interested families to reach out to about ABGS was also perceived to be important with 77% of respondents ranking it as very helpful.

Table 5.

Perceived helpfulness of implementation strategies

ERIC Cluster	ERIC Strategy	Implementation Strategies	Very helpful n (%)	Somewhat helpful n (%)	Not very/at all helpful n (%)	Missing n (%)
Train and Education Stakeholders	Develop/distribute educational materials	Succinct information materials about ABGS for providers.	76 (82)	13 (14)	2 (2)	2 (2)
Support Clinicians	Creating new clinical teams	A direct point of contact to the research team for potentially interested families to reach out to about ABGS.	72 (77)	18 (19)	1 (1)	2 (2)
Utilize financial strategies	Make billing easier	A guide for coding and billing, including counseling time and dot phrases for documentation.	71 (76)	17 (18)	3 (3)	2 (2)
Train and Educate Stakeholders | Adapt and tailor to the context	Distribute educational materials + Tailor strategies	Low literacy and bilingual information materials about ABGS for patients (e.g., dot phrase for After Visit Summary about purpose of screening, possible outcomes, and next steps).	68 (73)	21 (23)	2 (2)	2 (2)
Train and Education Stakeholders	Conduct ongoing training/educational meetings	Educational In-service about genetic conditions and genetic testing/screening for your practice.	67 (72)	19 (20)	5 (5)	2 (2)
Use evaluative and iterative strategies| Adapt and tailor to context	Develop a formal implementation blueprint| Tailor strategies	A written plan outlining the roles, responsibilities, and processes for ABGS developed by our team and adapted with your input to fit your practice needs.	64 (69)	22 (24)	5 (5)	2 (2)
Providing interactive assistance	Facilitation	Providing hands-on implementation support during the pilot.	58 (62)	28 (30)	5 (5)	2 (2)
Use evaluative and iterative strategies	Conduct local needs assessment	Completion of a brief assessment to determine what needs to be addressed to incorporate ABGS in your clinic.	56 (60)	30 (32)	5 (5)	2 (2)
Develop stakeholder interrelationships	Identify and prepare champions	Identification and support of provider champions for ABGS in your practice.	49 (53)	34 (37)	8 (9)	2 (2)

The ERIC clusters most represented in the free text responses related to implementation strategies were Train and Educate Stakeholders, Support Clinicians, and Utilize Financial Strategies. Open-ended responses further highlighted the importance of developing and distributing educational materials for patients and families: “Provide a short video explaining the service, testing, and implications that patients are required to watch prior to testing.” Several other open-ended responses emphasized the importance of supporting clinicians: “YOU MUST remove the work burden from providers. They should not be the genetic counselor. I think this should be done as a separate visit immediately before or after care guided by separate personnel to discuss this with the patient,” and “Ideally, having the results automatically route to an individual/provider/practice with experience with these genetic screenings as many providers in my clinic are not familiar with the result interpretation or follow-up. Or, having an on-call individual available to e-consult or staff message on EPIC.” Finally, one respondent stressed the importance of having a detailed implementation plan: “The key is in the details —what is being screened, how often, method (finger stick vs. venous vs. swab), potential impact (incidence, false negatives, preventive health impact, cost benefit) etc.”

Discussion

Our findings indicate both enthusiasm and interest for expanded genomic screening among pediatric primary care providers across NC, and important considerations and concerns related to equitable implementation. Respondents showed particular interest in the potential benefits of the ABGS program to help patients access care before symptoms arise and to help reduce disparities within healthcare. Interestingly, the potential to increase healthcare disparities was also a concerning barrier to the implementation of ABGS, along with time and expertise limitations within primary care to effectively implement the program. Implementation strategies that focused on addressing financial (cost for patients) and operation (timely access to consultation, provider time limitations within visits) barriers were prioritized by respondents as essential to successful implementation of ABGS.

These results reinforce implementation determinants previously described in the literature, including the enrollment and education of diverse populations and the smooth integration of new processes into existing workflows, and supplement relevant implementation frameworks with clinicians’ suggestions [10, 22, 32]. While mirrored in previous literature describing programs focused on adult populations and on expanding state newborn screening, the concern of time limitations among providers was particularly emphasized in our study, perhaps representing the unique challenge of adequately covering a wide variety of topics within a pediatric well-child visit and the additional burden of parental education [10, 23]. The unique structure of ABGS spanning multiple well child care visits posits this survey to provide novel data on provider perspectives on implementation determinants and strategies of expanded screening in a longitudinal setting.

Our findings have implications for the ABGS pilot program’s design and other genomic medicine practices. For example, in addition to being prioritized in our study, in a study examining the implementation of pharmacogenetics testing in various clinic settings the CFIR constructs of patient needs and resources, knowledge and beliefs of individuals, and evidence strength and quality of the intervention, emerged as top priorities [33]. Similar to our study, the challenges associated with the role of primary care providers in delivering genetic results has been studied in the implementation of other genomic medicine practices. Studies have explored primary care providers’ views on discussing with patients the genetic risk of common chronic diseases and actionable genomic findings from a research biobank [34, 35]. Much like our results, these studies indicate a widespread belief that genetic test results are important to delivery of high-quality care, but also that primary care providers lack confidence to accurately deliver such results [34, 35]. These sentiments were mirrored in our survey responses regarding providers’ trust in the relevance and importance of programs such as ABGS, while simultaneously lacking confidence in their ability to discuss genetic findings with their patients. The implementation strategies rated as most helpful by survey respondents (providing succinct informational materials and a direct point of contact within the research study), while relevant to ABGS, may also be helpful in the implementation of other genomic screening programs.

The successful implementation of the ABGS program hinges on our commitment to address the survey findings described in this study in the design of our planned pilot. The structure of a pre-implementation survey of barriers and benefits followed by the creation of a pilot blueprint has similarly been used in the implementation of other genomic medicine practices, including the adoption of a family health history risk assessment with great success [36]. For ABGS specifically, to address the implementation determinants we identified, we need to include specific plans for ensuring primary care providers have the time and resources available for shared decision making with their patients regarding engaging in screening. In the case of a positive result, the pilot program must provide guided navigation of our complex healthcare system including timely access to follow-up care.

Perhaps most importantly, the design, implementation, and critical evaluation of the ABGS pilot program must address the acknowledged potential of ABGS to reduce or perpetuate disparities within the healthcare system referenced by many survey respondents. While ABGS is being developed and tested, it is appropriately designed as an “opt-in” program to which parents provide consent. However, such a design could exacerbate disparities as those with lower genetic literacy may opt-in a different rate than those with higher genetic literacy. Therefore, if after rigorous evaluation the risk: benefit ratio of AGBS proves to be favorable, pivoting to an opt-out model, like the NBS program, should be considered to reduce disparities. In addition, various components of ABGS underway in parallel to the initial survey described in this manuscript are laying a framework for anticipating and addressing the health disparities associated with the implementation of genomic medicine initiatives. The project includes a Community Engagement and Education Committee focused on recruiting diverse members of NC communities to share their concerns and endorsements of all stages of the ABGS project. As part of this committee, we have created a Community Advisory Board consisting of a diverse group of parents that are members of the local community who bring unique and critical perspectives to the pilot study’s design, focusing on the experience of patients and their families [17].

Next steps in the design and development of the ABGS program include several iterations of feedback planned for the pilot protocol including individual interviews with providers, practice managers, and patients and families, observation of clinic workflow, and feedback sessions discussing implementation of the pilot into existing clinic processes for patient care and follow-up. The implementation of the pilot will include the collection of data that can be analyzed to understand what went well and what needs to be addressed in future expansion of the ABGS program. These data will be analyzed within the framework provided by this study to identify benefits and barriers that were and were not addressed with the pilot implementation plan. There is much to be learned from the future stages of this project with implications for expanded genetic screening and other genomic medicine initiatives.

Our study has limitations. Although the NCNC consortium is large and diverse, it is possible that respondents from clinics not part of this group might have provided a novel perspective with respect to genetic screening in the pediatric context. Additionally, because all respondents are from NC, the generalizability of our results to other states and contexts is unknown. The results may represent regional bias in healthcare practice, policy, and provider perspectives influenced by multiple factors such as the current status of newborn screening and Medicaid expansion in NC. Due to the limitations of NCNC, we were unable to measure how many of the practice managers forwarded the survey invitation to their clinics, or the number of clinicians actively practicing within each clinic, thus limiting our ability to calculate the survey response rate. Furthermore, as with all surveys, there is likely sampling bias with providers who are more interested in genomics screening being more likely to respond, thus skewing the results. Not all respondents provided free text comments (n = 24 responded to free text); however, the goal of the free text responses was not to reach thematic saturation but rather to understand additional barriers, benefits, and strategies not represented in survey items. In addition, our sample size was relatively small although represented geographic diversity across the state. Our study was not powered to evaluate responses by region or demographic characteristic of respondents which could have been informative to future implementation. Our sample included practice managers who are not pediatric primary care practitioners and therefore some of the survey questions may have been less relevant to their role, such as those involving comfort or confidence discussing genomic screening with patients. However, because practice managers are critical to the implementation of any new clinical program, we felt it was important to include them in the survey. Despite these limitations, the results will be sufficient to support future ABGS program development and implementation as described.

Conclusions

Our findings have implications for the ABGS pilot program’s design and directions for future research in genomic implementation. In particular, the pilot program must address providers’ concerns regarding the resources needed to equitably and sustainably expand genetic screening in primary care settings. The potential for the program to perpetuate health disparities and overwhelm care providers must be top of mind with every design decision regarding the pilot and the evaluation of its success following completion. The comparison of these pre-implementation survey results with a critical evaluation of the pilot’s ability to address providers concerns will inform future implementation of genomic medicine initiatives.

Abbreviations

ABGS

Age-Based Genomic Screening

CFIR

Consolidated Framework for Implementation Research

ERIC

Expert Recommend

NBS

Newborn screening

NC

North Carolina

NCNC

North Carolina Network Consortium

Authors’ contributions

EKB, MCR, MW, NAdJ, and SS contributed to the conception and design of the study, participated in acquisition, analysis, or interpretation of data, drafted the manuscript, critically revised the manuscript, gave final approval of the version to be published, and agree to be accountable for all aspects of the work in ensuring integrity and accuracy. LM, JB, KF, and AKMF contributed to the conception and design, critically revised the manuscript, gave final approval, and agree to be accountable for all aspects of the work. SG and MB contributed to the conception and design, participated in acquisition, analysis, or interpretation of data, critically revised the manuscript, gave final approval, and agree to be accountable for all aspects of the work.

Funding

This research is funded by the National Institute of Health Grant #R01HG012271.

Data availability

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Declarations

Ethics approval and consent to participate

The study protocol was developed in accordance with the Declaration of Helsinki and reviewed by the Institutional Review Board of the Office of Human Research Ethics of the University of North Carolina and was determined to be exempt from Human Subjects Research Review. Informed consent to participate has been obtained from all the participants.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.