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. Author manuscript; available in PMC: 2025 Mar 1.
Published in final edited form as: J Clin Lipidol. 2024 Jan 4;18(2):e176–e188. doi: 10.1016/j.jacl.2024.01.001

Using Implementation Science to Develop a Familial Hypercholesterolemia Screening Program in Primary Care: the CARE-FH Study

Laney K Jones a,b, Katrina M Romagnoli c, Tyler J Schubert a,d, Katarina Clegg a,d, H Lester Kirchner c, Yirui Hu c, Dylan Cawley a, Victoria Norelli a, Marc S Williams a, Samuel S Gidding a, Alanna K Rahm a
PMCID: PMC11069448  NIHMSID: NIHMS1958231  PMID: 38228467

Abstract

Background.

We designed the Collaborative Approach to Reach Everyone with familial hypercholesterolemia (CARE-FH) clinical trial to improve FH screening in primary care and facilitate guideline-based care.

Objective.

The goal was to incorporate perspectives from end-users (healthcare system leaders, primary care clinicians, cardiologists, genetic counselors, nurses, and clinic staff) and improve translation of screening guidance into practice.

Methods.

We partnered with end-users to sequentially define the current state of FH screening, assess acceptability, feasibility, and appropriateness of implementing an FH screening program, and select clinically actionable strategies at the patient-, clinician-, and system-level to be deployed as a package in the CARE-FH clinical trial. Methods informed by implementation science and human centered design included: contextual inquiries, surveys, and deliberative engagement sessions.

Results.

Screening for FH occurred rarely in primary care, and then only after a cardiovascular event or sometimes due to a family history of high cholesterol or early heart attack. Surveys suggested FH screening in primary care was acceptable, appropriate, and feasible. Reported and observed barriers to screening include insufficient time at patient encounters to screen, cost and convenience of testing for patients, and knowledge regarding causes of dyslipidemia. Facilitators included clear guidance on screening criteria and new therapies to treat FH. These results led to the development of multilevel strategies that were presented to end-users, modified, and then pilot tested in one primary care clinic.

Conclusions.

A refined implementation strategy package for FH screening was created with a goal of improving FH awareness, identification, and initiation of guideline-based care.

Clinical trial registration.

https://clinicaltrials.gov/study/NCT05284513?id=NCT05284513&rank=1 Unique Identifier: NCT05284513

Keywords: familial hypercholesterolemia, identification, implementation science, human centered design, implementation strategies

Graphical Abstract

graphic file with name nihms-1958231-f0001.jpg

INTRODUCTION

Routine screening of cholesterol levels is recommended in primary care practices for atherosclerotic cardiovascular disease (ASCVD) prevention in children and adults.1–3 Screening of cholesterol and genetic testing is important to identify individuals with familial hypercholesterolemia (FH).4–6 Approximately 17,500 deaths per year and 20% of heart attacks in people under the age of 45 are attributable to FH.7 If FH is identified in childhood or young adulthood, future cardiovascular events can be prevented.4 However, fewer than 20% of children have had a lipid profile measured in the United States and young adults are less likely to have a lipid profile obtained than older adults.8–10 This is a significant evidence-to-practice gap confirmed by Geisinger’s MyCode Community Health Initiative (MyCode®), an exome sequencing population screening project.11,12 FH genetic variants were identified in 1:212 of the first 90,000 participants; 85% of those were undiagnosed, 42% were under- or un-treated, and 32% had experienced ASCVD.13

We designed the Collaborative Approach to Reach Everyone with FH (CARE-FH) clinical trial to improve FH screening in primary care and facilitate guideline-based lipid lowering.14 The goal was to incorporate perspectives from end-users (health care system leaders, primary care clinicians, cardiologists, genetic counselors, nurses, and clinic staff) and improve evidence-based cholesterol screening guidelines translation into clinical practice.15–17 We used methods from implementation science and human centered design to identify strategies to alter care infrastructure and workflows, identify education gaps, and improve deployment of interventions to achieve improved adherence to guidelines.15–21

This manuscript describes the results of this investigation to develop the CARE-FH clinical trial. Partnering with stakeholders, we sequentially 1) defined the current state of FH screening and identification, 2) assessed the acceptability, feasibility, and appropriateness of implementing an FH screening program, and 3) collaboratively developed implementation strategies to be deployed as a package in the CARE-FH clinical trial. Transparency about how an intervention is deployed and reporting findings will allow internal improvement and generalizability of findings to other practice settings.

METHODS

During this development phase of the CARE-FH clinical trial, investigators and study personnel were organized into teams.14 The implementation science team sought to understand the current state of and perspectives on cholesterol screening practices at Geisinger and develop solutions to overcome barriers to implementation. The medical science team developed the evidence-based screening protocol and provided feedback to the implementation science team regarding feasibility of the solutions and ensured clinical support for the project. The informatics and data science team developed electronic health record (EHR) tools to support implementation, data retrieval tools to monitor study outcomes, and statistical support for trial design. This study was approved by the Geisinger Institutional Review Board (IRB#2021–0927) and CARE-FH is a registered clinical trial (NCT05284513).

Data Collection

The following methods were used contextual inquiries, surveys, and deliberative engagement sessions to collect data on the current state of FH screening, the acceptability, appropriateness, and feasibility of an FH screening program and to facilitate the collaborative development of an implementation strategy package in the primary care setting (Table 1). Clinicians working in the primary care settings (e.g., family practice, internal medicine, and pediatrics) were asked to participate in this study. The implementation strategy package was piloted in one clinic.

Table 1.

Purpose, participants, and data collection to co-develop the implementation strategy package

Purpose Participants Data collection
Current state of FH screening 1) Primary care clinicians in internal medicine, family medicine, and pediatrics; 2) specialists in cardiology and lipidology, both pediatric and adult Contextual inquiries (observations with semi-structured interviews)
Acceptability, appropriateness, and feasibility of a FH screening program Primary care clinicians, including physicians, nurse practitioners, physician assistants, and trainees (residents and fellows), practicing in community medicine, internal medicine, and pediatrics Survey
Collaborative development of implementation strategy package Session 1: 1) Clinicians from the medical science team of the study; 2) clinicians deemed to have a vested interest in the development of implementation strategies
Session 2: Refine by clinicians at the primary care clinic		 Deliberative engagement sessions
One primary care clinic Trialability (pilot testing) of the implementation strategy package at one clinic
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Current state of FH screening

Contextual inquiries were conducted with clinicians caring for undiagnosed FH patients. Participants were identified using a combination of purposive, convenience, and snowballing sampling and then invited via email. Contextual inquiries were conducted by experienced qualitative researchers, and consisted of observing clinical workflow followed by in-depth, semi-structured interviews (Appendix 1). Observations focused on interactions with patients who had elevated cholesterol levels. Additional qualitative interviews were conducted with clinicians that were not observed (to ensure saturation of ideas), transcribed verbatim and reviewed for accuracy. Participants were asked to describe experiences diagnosing and treating patients with FH and to propose ideas about the ideal state for this process. Findings were articulated in journey maps, which visualize clinician thought and action processes regarding FH workflow, highlight barriers and facilitators to FH care, and reveal opportunities for potential interventions to improve screening.

Acceptability, appropriateness, feasibility of a FH screening program

Surveys were conducted to assess acceptability, appropriateness, and feasibility of an FH screening program system-wide. All eligible stakeholders were invited to complete a survey. The survey contained 7 demographic questions, 1 confidence question, 12-item validated Acceptability of Implementation Measure (AIM), Implementation Appropriateness Measure (IAM), and the Feasibility of Intervention Measure22 (using “a program for FH”), and 4 open ended questions.

Electronic surveys were distributed to the same clinicians eligible for contextual inquiries, via e-mail to determine the readiness to implement the specific proposed screening program for FH in primary care at Geisinger (Appendix 2). The survey included a description of the proposed program and the clinical importance of identifying and treating individuals with FH.

Solutions incorporated in the implementation strategy package

Solutions brought forward by participants from contextual inquiries and surveys that addressed barriers were recorded and transformed into the implementation strategy package using a systematic approach of developing implementation strategies, called implementation mapping.23,24 The package comprised a collection of all such suggestions including definitions of how the intervention will be implemented, by whom, who would receive it, and how often it would be delivered. Additional stakeholder meetings were held to troubleshoot solutions to barriers identified.

Collaborative development of the implementation strategy package

These implementation strategies, based on initial feedback from the surveys and contextual inquiries (Appendix 3), were discussed at a deliberative engagement session. Clinicians discussed opportunities for addressing FH care gaps while providing feedback regarding implementation strategies selected. A summary of findings and draft versions of journey maps created through the contextual inquiry process were shared with clinicians from the medical leadership team to facilitate feedback and discussion (Appendix 4). Participants were then re-presented with a revised multi-level package of implementation strategies (including patient-level, clinician-level, and system-level strategies) during a medical leadership team meeting where further feedback and approval was elicited.

One primary care clinic volunteered as a pilot site. The implementation strategy package included: patient outreach, clinician education and training, clinician notification, and standardized screening documentation (through EHR tools). A second deliberative engagement session occurred after pilot testing with clinicians from the pilot site to further refine the implementation strategy package prior to the start of the CARE-FH clinical trial (Appendix 5).

Data Analysis

Current state of FH screening

Rapid data extraction and analysis method of rapid analysis is a templated approach using spreadsheet software to iteratively organize, reduce, and summarize qualitative findings for applied research.25,26 Affinity mapping is a method of organizing qualitative data by grouping like with like to identify themes.25,26 Clinician interview responses were categorized by level of experience with screening, diagnosis, and managing patients with FH.

Data tables were created from the affinity maps which illustrated common beliefs about the current state of FH care among both primary care and cardiology clinicians. Affinity map data included: reasons for appointments in primary care, reasons for referrals for specialty care, the process to diagnosis FH, educational and clinical resources available, role of other clinicians in the diagnostic process, information provided to patients about the FH diagnosis, and the clinical management plan.

Acceptability, feasibility, appropriateness of a FH screening program

Descriptive statistics were reported for the demographics and the 12-item AIM, IAM, and FIM.22 Responses to the four open ended questions were uploaded into Atlas.ti (Scientific Software, Inc) for data management and coded for positive and negative responses. Relevant themes related to each question and explementary quotes were extracted.

Collaborative development of the implementation strategy package

Deliberative engagement sessions were recorded, transcribed, and de-identified. A rapid qualitative analysis approach was used to review summary notes taken during the sessions and to triangulate data from them with themes that emerged from the sessions.26 These data were used to revise the initial implementation strategies in the package deployed at the pilot site. Feedback from the pilot site enabled further refinement. Descriptive statistics of outcomes assessed at the pilot site were reported from September to November 2022.

RESULTS

Current state of FH screening

Twelve contextual inquiries that consisted of both observations and interviews and three additional interviews were conducted with clinicians, with equal representation from primary care and cardiology. Two clinicians were board-certified lipidologists. Six clinicians had experience caring for individuals with FH, five of whom were cardiologists, and the other was a primary care clinician. Two of the six interviewed primary care clinicians reported no experience caring for individuals with FH.

Facilitators to screening and guideline-directed care were categorized into the following domains: screening guidelines, diagnostic criteria, novel therapies, and interdisciplinary approach to FH care (Appendix 6). Screening guidelines provide clinicians with clear information regarding FH screening, including defined patient ages for lipid screening and scenarios for when to perform cascade family testing. The interdisciplinary nature of FH care (primary care, cardiology, nutrition, genetics, pharmacy, and other departments) helped clinicians collaborate to better screen, diagnose, and treat FH patients. Recent innovations in lipid-lowering drug therapies provide hope to clinicians and patients for achieving desired low-density lipoprotein cholesterol (LDL-C) metrics and improving overall quality of life.

Diverse and multi-faceted barriers were categorized into the following domains: cost, documentation unavailable, time, notification process, emphasis of prevention, knowledge, experience, and insurance coverage (Appendix 7). Clinicians were concerned about costs to patients for screening tests, novel therapies, and specialty care that may prevent treatment. Clinicians felt the short time available to meet with patients prevented them from performing all desired clinical tasks during a patient encounter, which may include performing a thorough family history, a FH workup, and any subsequent patient education. Patients in the primary care environment may present with higher priority acute issues. Alert fatigue might cause clinicians to miss important information. Clinicians also reported difficulties in connecting FH recognition with the appropriate clinical guidelines for diagnosis and treatment. Some felt insurance coverage and cost might be a barrier to offering newer medications and genetic testing. Clinicians reported limited confidence in identifying, diagnosing, and treating FH, while also being concerned that patients do not understand the risk of FH.

Journey maps showed primary care clinicians felt it was their responsibility to screen for cholesterol disorders but were limited by time and knowledge about the criteria to make an FH diagnosis (Appendix 4). They felt comfortable referring these patients to genetics and cardiology for further diagnostic and medication management. Cardiologists were more familiar with caring for individuals with FH, often diagnosing FH after a cardiovascular event, but wished earlier diagnosis had prevented poor outcomes.

Acceptability, appropriateness, and feasibility of a FH screening program

A total of 250 surveys were sent via email to primary care clinicians (100 community medicine, 70 internal medicine, and 80 pediatrics). Four surveys were undeliverable and 3 were excluded for clinician selecting “other” as their department. Overall response rate was 35% (84/243), with highest response rate from pediatrics at 48% (38/80). Response rate for internal medicine was 32% (22/69) followed by community medicine at 26% (24/94). Only 31% of responders in the entire sample were male, however 94% from pediatrics identified as female, meaning the male to female ratio in other departments was close to 50:50. Across all departments, 70% (58/83) of respondents strongly agreed or agreed with the statement they were “confident in their ability to perform screening for FH in their clinic.”

Responses to the acceptability, implementation, and feasibility questions are reported in Table 2. Responses to the acceptability questions ranged from 48% to 71% for completely agree or agree for each of the 4 questions. The question “I like performing a screening for FH in my clinic” had the lowest level of agreement (48%). Responses to the implementation questions ranged from 70% to 75% of clinicians saying they completely agree or agree in the appropriateness of FH screening in primary care. Responses of completely agree and agree to the feasibility questions for deploying FH screening in primary care ranged from 50–69%. The question with the lowest feasibility was “Performing a screening for FH in my clinic seems like a good match” with only 50% of clinicians agreeing with this statement.

Table 2.

Acceptability, appropriateness, and feasibility survey responses

Domain Statement, n (%) Responses Community medicine
(n=24)		 Internal medicine
(n=22)		 Pediatrics
(n=38)		 Total
(n=84)		 P-value*
Acceptability Performing a screening for familial hypercholesterolemia in my clinic meets my approval. Completely agree 8
(33.3)		 8
(36.4)		 14
(36.8)		 30
(35.7)		 0.49
Agree 11
(45.8)		 10
(45.5)		 20
(52.6)		 41
(48.8)
Neither agree nor disagree 5
(20.8)		 2
(9.1)		 4
(10.5)		 11
(13.1)
Disagree 0 1
(4.5)		 0 1
(1.2)
Missing 0 1
(4.5)		 0 1
(1.2)
Performing a screening for familial hypercholesterolemia in my clinic is appealing to me. Completely agree 7
(29.2)		 7
(31.8)		 14
(36.8)		 28
(33.3)		 0.41
Agree 10
(41.7)		 11
(50.0)		 18
(47.4)		 39
(46.4)
Neither agree nor disagree 7
(29.2)		 3
(13.6)		 3
(7.9)		 13
(15.5)
Disagree 0 0 2
(5.3)		 2
(2.4)
Missing 0 1
(4.5)		 1
(2.6)		 2
(2.4)
I like performing a screening for familial hypercholesterolemia in my clinic. Completely agree 4
(16.7)		 7
(31.8)		 10
(26.3)		 21
(25.0)		 0.24
Agree 6
(25.0)		 5
(22.7)		 16
(42.1)		 27
(32.1)
Neither agree nor disagree 14
(58.3)		 9
(40.9)		 11
(28.9)		 34
(40.5)
Disagree 0 0 1
(2.6)		 1
(1.2)
Missing 0 1
(4.5)		 0 1
(1.2)
I welcome performing a screening for familial hypercholesterolemia in my clinic. Completely agree 6
(25.0)		 8
(36.4)		 12
(31.6)		 26
(31.0)		 0.67
Agree 13
(54.2)		 10
(45.5)		 18
(47.4)		 41
(48.8)
Neither agree nor disagree 5
(20.8)		 2
(9.1)		 6
(15.8)		 13
(15.5)
Disagree 0 1
(4.5)		 2
(5.3)		 3
(3.6)
Missing 0 1
(4.5)		 0 1
(1.2)
Appropriateness Performing a screening for familial hypercholesterolemia in my clinic seems fitting. Completely agree 9
(37.5)		 9
(40.9)		 11
(28.9)		 29
(34.5)		 0.77
Agree 12
(50.0)		 10
(45.5)		 24
(63.2)		 46
(54.8)
Neither agree nor disagree 2
(8.3)		 2
(9.1)		 3
(7.9)		 7
(8.3)
Disagree 1
(4.2)		 1
(4.5)		 0 2
(2.4)
Performing a screening for familial hypercholesterolemia in my clinic seems suitable. Completely agree 9
(37.5)		 7
(31.8)		 12 (31.6) 28
(33.3)		 0.51
Agree 12
(50.0)		 10
(45.5)		 22
(57.9)		 44
(52.4)
Neither agree nor disagree 2
(8.3)		 5
(22.7)		 4
(10.5)		 11
(13.1)
Disagree 1
(4.2)		 0 0 1
(1.2)
Performing a screening for familial hypercholesterolemia in my clinic seems applicable. Completely agree 8
(33.3)		 8
(36.4)		 12
(31.6)		 28
(33.3)		 0.91
Agree 13
(54.2)		 11
(50.0)		 23
(60.5)		 47
(56.0)
Neither agree nor disagree 2
(8.3)		 2
(9.1)		 3
(7.9)		 7
(8.3)
Disagree 1
(4.2)		 1
(4.5)		 0 2
(2.4)
Performing a screening for familial hypercholesterolemia in my clinic seems like a good match. Completely agree 8
(33.3)		 8
(36.4)		 13
(34.2)		 29
(34.5)		 0.83
Agree 12
(50.0)		 10
(45.5)		 19
(50.0)		 41
(48.8)
Neither agree nor disagree 3
(12.5)		 4
(18.2)		 6
(15.8)		 13
(15.5)
Disagree 1
(4.2)		 0 0 1
(1.2)
Feasibility Performing a screening for familial hypercholesterolemia in my clinic seems implementable. Completely agree 6
(25.0)		 7
(31.8)		 7
(18.4)		 20
(23.8)		 0.68
Agree 14
(58.3)		 11
(50.0)		 21
(55.3)		 46
(54.8)
Neither agree nor disagree 4
(16.7)		 3
(13.6)		 5
(13.2)		 12
(14.3)
Disagree 0 1
(4.5)		 3
(7.9)		 4
(4.8)
Missing 0 0 2
(5.3)		 2
(2.4)
Performing a screening for familial hypercholesterolemia in my clinic seems possible. Completely agree 7
(29.2)		 8
(36.4)		 10
(26.3)		 25
(29.8)		 0.88
Agree 14
(58.3)		 10
(45.5)		 20
(52.6)		 44
(52.4)
Neither agree nor disagree 3
(12.5)		 4
(18.2)		 7
(18.4)		 14
(16.7)
Disagree 0 0 1
(2.6)		 1
(1.2)
Performing a screening for familial hypercholesterolemia in my clinic seems doable. Completely agree 6
(25.0)		 7
(31.8)		 9
(23.7)		 22
(26.2)		 0.94
Agree 12
(50.0)		 10
(45.5)		 20
(52.6)		 42
(50.0)
Neither agree nor disagree 6
(25.0)		 5
(22.7)		 8
(21.1)		 19
(22.6)
Disagree 0 0 1
(2.6)		 1
(1.2)
Performing a screening for familial hypercholesterolemia in my clinic seems easy to use. Completely agree 7
(29.2)		 5
(22.7)		 9
(23.7)		 21
(25.0)		 0.10
Agree 7
(29.2)		 6
(27.3)		 16
(42.1)		 29
(34.5)
Neither agree nor disagree 10
(41.7)		 10
(45.5)		 8
(21.1)		 28
(33.3)
Disagree 0 0 5
(13.2)		 5
(6.0)
Missing 0 1
(4.5)		 0 1
(1.2)
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*

P-value from Chi-square tests and Fisher’s exact tests if cell count < 5.

Disagree combines the responses of ‘Completely Disagree’ and ‘Disagree’.

A total of 87 free responses were analyzed for acceptability, appropriateness, and feasibility. Appendix 8 highlights exemplar quotes related to each domain. Respondents overwhelmingly expressed prevention of cardiovascular disease as important and that evidence-based care should be performed in the primary care setting. Clinicians felt screening for FH was acceptable because of the value of early recognition in prevention of severe complications. Some clinicians expressed they were already screening their patients for FH however others felt their patients would not benefit. Clinicians’ concerns included how long and/or complex the screening process might be and concerns with having time or staff resources to cover FH screening. They also listed patient-level barriers to obtaining a lipid panel as one of the critical elements limiting feasibility of screening for FH.

Solutions incorporated in the implementation strategy package

Solutions were categorized at the clinic- and system-level. Clinic-level solutions suggested to improve feasibility included notifications to the clinician through the EHR such as ‘best practice alerts’ or ‘smart sets’ to speed up documentation in the EHR. The informatics team worked with clinicians on the medical team and used feedback to develop a set of EHR tools including a smart set (containing information on which tests to order to confirm FH, medication therapies, easy access to the FH diagnosis), clinic note, and FH diagnostic criteria. Some clinicians mentioned other staff, such as trainees, available in clinics to alleviate the primary care clinician’s burden. Clinicians suggested hiring staff to screen, adding a new visit slot for screening, or adding time to an existing visit to conduct the screening. Removal of the barrier for primary care to be able to order FH genetic testing was also suggested.

System-level solutions arose from meetings with institutional leaders who oversaw diverse activities such as improving ease for access to genetic testing, quality metric, system education, lipid testing at opportunistic appointments, and marketing. System policy stated genetic testing could not be ordered by primary care clinicians. The study team was able to remove this barrier. Since primary care clinicians were not as familiar with the genetic testing process, a silent alert in the EHR was implemented when genetic testing for FH was ordered for a study team member to complete the associated paperwork for the clinician. We developed genetic testing information videos in English and Spanish with a questionnaire to facilitate the consent process. If the patient did not understand the material presented in the video, the survey would prompt a call from a genetic counselor. The pediatric quality council met and agreed that screening children ages 9–11 should be added to the current list of metrics by which clinicians are assessed. To notify patients of the need for an FH evaluation, a care gap letter was developed to inform patients they should discuss cholesterol with their clinician at their next appointment. The medical team approved obtaining a non-fasting lipid profile to facilitate screening on the day of a primary care appointment.

A two-pronged approach to clinician education was developed. As online learning was considered impersonal and an imposition on clinician time, a primary strategy of in office, face-to-face clinician education with demonstration of EHR tools was chosen. This was supplemented with system-wide cardiology, internal medicine, community medicine, and pediatric grand rounds about FH and the study.

Collaborative development of implementation strategy package

A total of 7 clinicians (6 members of the study’s medical science team and 1 clinician involved in caring for FH patients) participated in the first deliberative engagement session with representation from community medicine, internal medicine, pediatrics, and pediatric and adult cardiology. Participants provided feedback on the draft implementation strategy package. The following problems were identified: lack of awareness of FH, clinician knowledge about FH, clinician recognition of FH, and limited time during appointments to discuss FH. Table 3 highlights the initial strategies presented, recommendations made by participants, and the resulting co-developed implementation strategies to be utilized at the pilot site.

Table 3.

Collaborative iterative development of the implementation strategy package

Presented implementation strategy Recommendations by deliberative engagement team Co-developed implementation strategy definition (core components) Adaptations for the pilot site Trialability of the implementation strategy from pilot practice Refinements made to the implementation strategy with pilot practice
Patient-level
Patient outreach strategy

  • Targeted, multi-medium marketing campaign, to address a gap in care should occur immediately following the clinician education.

  • Reach out using multiple forms of communication (telephone call, email, or mobile electronic health record message).

  • Include an action step for patients.

  • Staged rollout of the marketing campaign, with suggested ideas of contacting patients via area codes or age groups to create various cohorts (improve feasibility and not overwhelm clinics and patients).

  • Reach out directly to patient cohorts, through a targeted mass media campaign, to recommend speaking with their primary care clinician at their upcoming appointment about high cholesterol.

  • Patient cohorts with a previous early heart attack, genetic variant but FH not documented on problem list, LDL-C > 190 mg/dL, LDL-C > 160 prescribed lipid lowering medications, no documented cholesterol level in health record.

  • Determined by the study team.

  • The study team successfully sent care gap letters for a total of 232 individuals with upcoming appointment at the pilot site over a 2.5-month period.

  • Clinicians and clinic staff were not able to comment directly on the use of this strategy, as no patients discussed the letter they received while they were in clinic.

  • Clinicians did recommend placing the appropriate language version face up in the letters for patients.

  • Ensure the reading level of the letter was appropriate.
Clinician-level
Clinician education and training

  • Diverse opinions regarding the delivery of the educational FH content.

  • Unanimous agreement that training sessions should occur in small group settings.

  • Some clinicians advocated for delivering FH education through short segments over a period of several months, whereas others suggested hour-long training. sessions over mealtimes or during monthly faculty meetings.

  • Education and training program to aid primary care clinicians to screen for FH. The training will include information about FH, the process of patient evaluation, and understanding of EHR tools to assist in the process. The training will occur in-person at each clinic site.

  • Other educational seminar at grand rounds will occur to provide general knowledge about FH.

  • This strategy is modifiable by the clinic.

  • In-person training is preferred for clinicians. Clinics can determine other clinic personnel that attends the training.

  • Six clinicians at the pilot site were educated and trained.

  • Clinicians asked for a fast fact sheet to be distributed during the training so that all the important information was on a single page.
Clinician notification

  • The consensus was to not add any additional messages that would be sent to clinicians.

  • The clinicians preferred to be notified that a patient should be screened at their wellness checks or routine visits, rather than acute visits.

  • Leverage existing programs that already notify clinicians about preventive screenings.

  • Another consensus was not to add FH screening as part of the patient screenings at check-in, since they already have so many.

  • Develop and implement a system to notify primary care clinicians that their patient needs to be screened for FH during their upcoming visit that day.

  • This strategy is modifiable by the clinic.

  • At the pilot site, the clinic personnel decided to have the nurse attach the heart card to the patient charts.

  • The study team notified the clinic staff of 295 patients that would require evaluation for FH.

  • Of those 295 patients, 170 patients still had appointments and clinic staff distributed heart cards to the clinicians so that they were prompted to complete the evaluation.

  • Clinic staff felt the heart cards, that they attached to patient charts that required a cholesterol evaluation, were useful and not interruptive to their clinic flow.

  • Clinicians did not provide any feedback on the heart cards.
System-level
Incentives to screen for FH

  • Many clinicians did not think that incentivizing the clinicians was appropriate.

  • Clinicians suggested incentivizing the patients (incentive programs have been used in the past).

  • This strategy was not pursued.
Standardized screening documentation (not originally presented but planned and received feedback)

  • Develop and implement FH clinical notes and smart sets to aid clinicians is making the FH diagnosis and then provide them with guidance on next steps.

  • Made available to all.

  • Determine by the study team.

  • Clinic notes were available for the pilot site go-live but the smart sets were delayed due to an upgrade to the electronic health record.

  • Smartsets only became available at the end of the pilot data collection.

  • There was little mention of the clinic notes.

  • The clinicians did inform us that a referral to a lipidologist referred patients to a clinic that was too far for them to drive. We have updated the educational training to include that a lipidologist is preferred, but a general cardiology referral is also appropriate.
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Prior to go-live, the study team met with pilot clinic leadership to discuss the clinic-level implementation strategies (clinician education and training and clinician notification) and decide the most feasible way to implement them. The pilot clinic leadership helped to schedule the in-person 1-hour training and determined that they would use heart cards they had developed previously and for a different purpose to notify clinicians about which patients should have cholesterol screening.

Four strategies were included in the CARE-FH implementation package (clinician education and training, patient outreach, clinician notification, and standardized screening documentation) and was piloted at one clinic from September to November 2022. Six providers were trained to screen and diagnose FH (clinician education strategy). A care gap letter was sent to 232 patients identified as eligible for screening (patient outreach strategy). 170 patients had a visit where the clinician was prompted to screen (clinician notification strategy). Clinicians were asked to use the electronic tools including pre-populated language within the clinic note and list of orders specific to individuals with FH (standardized documentation strategy).

Six clinicians (all trained via the clinician education strategy) and six clinic personnel participated in the post-pilot deliberative engagement session. Suggestions to improve the implementation strategies included integrating the screening criteria for FH into the EHR, creating a video to assist with consent for genetic testing with a survey which would gauge understanding of the patient, and recommendation to meet with individual operation managers to discuss the implementation of some of these strategies at their specific clinics (Table 3). Pilot clinic personnel suggested the patient identification within a clinic should be transitioned to the clinic staff 6 months after go-live at each site. A full description of the co-developed implementation strategy package to be utilized in the clinical trial is presented in Appendix 9 and includes additional strategies that will be implemented over the course of the trial, such as, obtaining leadership buy-in, soliciting feedback from patients and clinicians, identification of clinical champions, and scale up of the implementation strategy package.

DISCUSSION

Through engagement with health care system leadership and clinician stakeholders, we co-developed an implementation strategy package which was designed to address identified barriers to screening and diagnosing FH in primary care clinics. We found FH was being diagnosed most often by a cardiologist after a cardiovascular event had already occurred, which provided the rationale for the CARE-FH trial to address barriers to earlier diagnosis prior to cardiac events. Primary care clinicians felt screening for preventive diseases such as FH should occur in primary care, but structural challenges including appointment length and patient expectations were limitations. These results led to incorporating important elements into our screening program, including partnering with public relations to facilitate patient notification of the need for screening, emphasizing lipid screening for young adults, facilitating genetic testing ordering to reduce clinician barriers, and implementation of a quality metric for pediatric screening at ages 9–11. Clinician education was performed face-to-face in an office setting as a result of the engagement.

Implementation strategies developed and tested in the CARE-FH trial will help to identify which strategies are successful in screening and identifying individuals with FH. Adaptations to these strategies will be documented throughout the trial to aid with the understanding of core components necessary for impact, and which elements can be modified or discarded. The successful and adaptable components of these strategies, as confirmed by our clinical trial, can be incorporated with a strong evidence grade into clinical practice guidelines.27,28

Others have reported similar reasons for clinicians not performing lipid screening as those identified during our development of the strategy package.29–32 Our clinicians felt screening was acceptable, appropriate, and feasible, yet many were not currently screening. This is not uncommon in practice today, as a survey conducted by the American Academy of Pediatrics reported that more than 50% agreed that universal lipid screening should occur in children but nearly 70% of these physicians reported they never, rarely, or sometimes screened healthy 9- to 11-year-old patients.33 The current state of FH screening in primary care at Geisinger is low, similar to other practices in the United States and elsewhere.30,33,34 However, many organizations, nations, and countries are developing programs to improve FH screening and identification due to the significant risk of ASCVD and our ability to implement preventive measures.35–37 This led the study leadership team to successfully meet with the Pediatric Quality Council and advocate for cholesterol screening for children ages 9–11 to be added as a quality metric monitored and reported to clinicians.

The findings from contextual inquiries provide additional insight for the survey data, particularly related to barriers to implementation of FH screening: lack of time, lack of knowledge, and lack of patient/parental participation in screening. While quantitative results provide insight into the scale of problems experienced by clinicians and patients in diagnosing and treating FH, contextual inquiries provide rich insight into the experience of clinicians and patients in general and specifically around FH. For instance, the journey maps created from the human centered design methodology helped to identify the disparity between cardiologists with expertise in lipids compared to primary care and non-lipid specialists regarding knowledge of lipid treatment guidelines as compared to other dyslipidemia patients. Application of these multiple methods allowed us to uncover details explaining variation in practice in the “real world” clinic. These journey maps served as our implementation blueprint and provided guidance on development of our FH screening program.

Piloting the strategy package at one clinic over a 3-month period resulted in modifications to individual strategies and the addition of two new system-level strategies: leadership buy-in and scale up. The pilot highlighted the roles of clinic staff and nurses in developing office practices to help busy clinicians identify patients in need of FH screening. Implementation science frameworks indicate this process of providing a package of strategies addressing the known barriers, facilitators, and care gaps consistent across settings, yet can be adapted to the local context for operationalization will make findings more generalizable. Strategies in this package were defined and adapted to be operationalized at Geisinger. However, many of the learnings from this project can be generalized to other health care systems and contexts. Barriers identified are likely similar in most settings. We found failure of primary care clinicians to routinely perform cholesterol screening was not due to lack of interest in cardiovascular disease prevention, but to structural barriers at the system-, clinic-, and patient-levels making screening cumbersome either for clinicians or patients. This suggests improved screening rates depend upon efforts to identify these structural barriers and selecting implementation strategies to alleviate them. Examples from this project so far include the simplification of genetic test ordering and the clinician reminders.

Limitations.

Study limitations included unbalanced recruitment towards those who wanted to participate in surveys and contextual inquiries and scheduling/time commitment difficulties with clinicians which may have biased results. A delay also occurred in launching EHR tools for the pilot study due to an upgrade to the EHR. The medical and informatics teams were constructed to include key institutional leaders to facilitate overcoming barriers identified from this upgrade; this may make such a strategy less generalizable to settings without access to administrative leaders.

CONCLUSION

This study incorporates perspectives of primary care clinicians and health system leaders to inform, design, and refine an implementation strategy package to remove barriers. We found primary care clinicians are interested in increasing the rates of screening and identification of FH and feel they should offer this preventive measure to their patients but structural barriers and incomplete knowledge of lipidology impeded screening efforts. The implementation package developed will be further evaluated in a pragmatic clinical trial at Geisinger to understand its effectiveness in improving FH identification and care.

Supplementary Material

1

Highlights.

  • FH screening in primary care practices are acceptable, appropriate, and feasible.

  • An implementation strategy package was co-developed with primary care stakeholders to improve screening for FH within their practices.

  • Demonstrating successful screening for FH in primary care practice will help increase the number of individuals identified with FH.

  • Generalization of the primary care implementation strategy to other settings will improve FH identification nationwide.

SOURCES OF FUNDING:

Research reported in this publication was supported by the National Heart, Lung, And Blood Institute of the National Institutes of Health under Award Number R61HL161775 and R33HL161775. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

ABBREVIATION LIST:

ASCVD

atherosclerotic cardiovascular disease

CARE-FH

Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia

EHR

electronic health record

FH

familial hypercholesterolemia

LDL-C

low-density lipoprotein cholesterol

MyCode

MyCode Community Health Initiative

Footnotes

Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

DISCLOSURES:

Declaration of interest: Laney K. Jones is a consultant for Novartis. Samuel S. Gidding is a consultant for Esperion.

Use of AI and AI-assisted Technologies Statement: AI or AI-assisted technology has not be used in the preparation of this manuscript.

Ethical Statement: This study was approved by the Geisinger Institutional Review Board (IRB#2021–0927) and CARE-FH is a registered clinical trial (NCT05284513).

REFERENCES

  • 1.Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 2011;128 Suppl 5(Suppl 5):S213–56. (In eng). DOI: 10.1542/peds.2009-2107C. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 2.Daniels SR, Gidding SS, de Ferranti SD. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. Journal of clinical lipidology 2011;5(3 Suppl):S30–7. [DOI] [PubMed] [Google Scholar]
  • 3.Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation 2019;139(25):e1082–e1143. (In eng). DOI: 10.1161/cir.0000000000000625. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 4.Luirink IK, Wiegman A, Kusters DM, et al. 20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. The New England journal of medicine 2019;381(16):1547–1556. [DOI] [PubMed] [Google Scholar]
  • 5.Khera AV, Won H-H, Peloso GM, et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. Journal of the American College of Cardiology 2016;67(22):2578–2589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 6.Sturm AC, Knowles JW, Gidding SS, et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. Journal of the American College of Cardiology 2018;72(6):662–680. [DOI] [PubMed] [Google Scholar]
  • 7.Rodriguez F, Knowles JW. Enough Evidence, Time to Act! Circulation 2016;134(1):20–3. [DOI] [PubMed] [Google Scholar]
  • 8.Allen-Tice C, Steinberger J, Murdy K, Zierhut H. Pediatric cholesterol screening practices in 9- to 11-year-olds in a large midwestern primary care setting. Journal of clinical lipidology 2020;14(2):224–230. [DOI] [PubMed] [Google Scholar]
  • 9.Berger JH, Chen F, Faerber JA, O’Byrne ML, Brothers JA. Adherence with lipid screening guidelines in standard- and high-risk children and adolescents. Am Heart J 2021;232:39–46. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 10.Control CfD, Prevention. Prevalence of cholesterol screening and high blood cholesterol among adults--United States, 2005, 2007, and 2009. MMWR Morbidity and mortality weekly report 2012;61:697–702. [PubMed] [Google Scholar]
  • 11.Carey DJ, Fetterolf SN, Davis FD, et al. The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Genet Med 2016;18(9):906–13. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 12.Kelly MA, Leader JB, Wain KE, et al. Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project. Am J Med Genet C Semin Med Genet 2021;187(1):83–94. [DOI] [PubMed] [Google Scholar]
  • 13.Abul-Husn N, Manickam K, Jones LK, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science (New York, NY) 2016;354(6319). [DOI] [PubMed] [Google Scholar]
  • 14.Jones LK, Williams MS, Ladd IG, et al. Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol. Journal of Personalized Medicine 2022;12(4):606. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 15.Chen E, Neta G, Roberts MC. Complementary approaches to problem solving in healthcare and public health: implementation science and human-centered design. Translational behavioral medicine 2021;11(5):1115–1121. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 16.Beres LK, Simbeza S, Holmes CB, et al. Human-centered design lessons for implementation science: improving the implementation of a patient-centered care intervention. Journal of acquired immune deficiency syndromes (1999) 2019;82(3):S230. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 17.Dopp AR, Parisi KE, Munson SA, Lyon AR. Aligning implementation and user-centered design strategies to enhance the impact of health services: results from a concept mapping study. Implementation Science Communications 2020;1(1):1–13. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 18.Powell BJ, Waltz TJ, Chinman MJ, et al. A refined compilation of implementation strategies: results from the Expert Recommendations for Implementing Change (ERIC) project. Implementation Science 2015;10(1):1–14. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 19.Proctor EK, Powell BJ, McMillen JC. Implementation strategies: recommendations for specifying and reporting. Implementation Science 2013;8(1):139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 20.Chan WV, Pearson TA, Bennett GC, et al. ACC/AHA Special Report: Clinical Practice Guideline Implementation Strategies: A Summary of Systematic Reviews by the NHLBI Implementation Science Work Group. Journal of the American College of Cardiology 2017;69(8):1076–1092. [DOI] [PubMed] [Google Scholar]
  • 21.Pearson TA, Califf RM, Roper R, et al. Precision Health Analytics With Predictive Analytics and Implementation Research. Journal of the American College of Cardiology 2020;76(3):306–320. [DOI] [PubMed] [Google Scholar]
  • 22.Weiner BJ, Lewis CC, Stanick C, et al. Psychometric assessment of three newly developed implementation outcome measures. Implementation Science 2017;12(1):1–12. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 23.Waltz TJ, Powell BJ, Fernández ME, Abadie B, Damschroder LJ. Choosing implementation strategies to address contextual barriers: diversity in recommendations and future directions. Implementation science 2019;14(1):1–15. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 24.Fernandez ME, Ten Hoor GA, Van Lieshout S, et al. Implementation mapping: using intervention mapping to develop implementation strategies. Frontiers in public health 2019;7:158. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 25.Scupin R. The KJ method: A technique for analyzing data derived from Japanese ethnology. Human organization 1997;56(2):233–237. [Google Scholar]
  • 26.Watkins DC. Rapid and rigorous qualitative data analysis: The “RADaR” technique for applied research. International Journal of Qualitative Methods 2017;16(1):1609406917712131. [Google Scholar]
  • 27.Sarkies MN, Jones LK, Gidding SS, Watts GF. Improving clinical practice guidelines with implementation science. Nat Rev Cardiol 2022;19(1):3–4. [DOI] [PubMed] [Google Scholar]
  • 28.Watts GF GS, Hegele RA, Raal FJ Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD, Folco E, Libby P, Mata P, Nawawi HM, Ramaswami U, Ray KK, Stefanutti C, Yamashita S, Pang J, Thompson GR, Santos RD & the FH International Expert Working Group of the International Atherosclerosis Society (IAS). International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nature Review Cardiology 2023:In press. [DOI] [PubMed] [Google Scholar]
  • 29.Sriram S, St Sauver JL, Jacobson DJ, et al. Temporal trends in lipid testing among children and adolescents: A population based study. Prev Med Rep 2017;8:267–272. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 30.Dixon DB, Kornblum AP, Steffen LM, Zhou X, Steinberger J. Implementation of lipid screening guidelines in children by primary pediatric providers. J Pediatr 2014;164(3):572–6. [DOI] [PubMed] [Google Scholar]
  • 31.Soukup J, Zierhut HA, Ison HE. Universal Cholesterol Screening among Pediatric Primary Care Providers within California and Minnesota: A Qualitative Assessment of Barriers and Facilitators. J Pediatr 2021;233:175–182.e2. [DOI] [PubMed] [Google Scholar]
  • 32.Jones LK, Sturm AC, Seaton TL, et al. Barriers, facilitators, and solutions to familial hypercholesterolemia treatment. PLoS One 2020;15(12):e0244193. (In eng). DOI: 10.1371/journal.pone.0244193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 33.de Ferranti SD, Rodday AM, Parsons SK, et al. Cholesterol Screening and Treatment Practices and Preferences: A Survey of United States Pediatricians. J Pediatr 2017;185:99–105.e2. [DOI] [PubMed] [Google Scholar]
  • 34.Zhang X, DeSantes K, Dodge A, et al. Practices and Attitudes Regarding Pediatric Cholesterol Screening Recommendations Differ Between Pediatricians and Family Medicine Clinicians. Pediatr Cardiol 2022;43(3):631–635. (In eng). DOI: 10.1007/s00246-021-02767-y. [DOI] [PubMed] [Google Scholar]
  • 35.Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357(9251):165–8. [DOI] [PubMed] [Google Scholar]
  • 36.Campbell-Salome G, Jones LK, Masnick MF, et al. Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia. Circulation Genomic and precision medicine 2021;14(1):e003120. (In eng). DOI: 10.1161/circgen.120.003120. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 37.McGowan MP, Cuchel M, Ahmed CD, et al. A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model. Am J Prev Cardiol 2021;6:100170. [DOI] [PMC free article] [PubMed] [Google Scholar]

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Supplementary Materials

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NIHMS1958231-supplement-1.docx (3.6MB, docx)

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