A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality

Background: Familial hypercholesterolemia (FH) is a genetic condition which elevates cholesterol levels and increases risk of premature cardiac events. Medical treatment greatly reduces those risks. However, in the United States, FH is markedly underdiagnosed. We aimed to design and evaluate direct...

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Main Authors: Rachel C. Forcino, Terry Sturke, Mary P. McGowan, Amanda N. Perry, Shoshana H. Bardach, Vikrant S. Vaze, Kerrilynn C. Hennessey
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:PEC Innovation
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772628225000366
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author Rachel C. Forcino
Terry Sturke
Mary P. McGowan
Amanda N. Perry
Shoshana H. Bardach
Vikrant S. Vaze
Kerrilynn C. Hennessey
author_facet Rachel C. Forcino
Terry Sturke
Mary P. McGowan
Amanda N. Perry
Shoshana H. Bardach
Vikrant S. Vaze
Kerrilynn C. Hennessey
author_sort Rachel C. Forcino
collection DOAJ
description Background: Familial hypercholesterolemia (FH) is a genetic condition which elevates cholesterol levels and increases risk of premature cardiac events. Medical treatment greatly reduces those risks. However, in the United States, FH is markedly underdiagnosed. We aimed to design and evaluate direct outreach and referral to specialty care for patients with an elevated risk of FH identified through application of a machine learning model and expert review of the electronic health record in a rural United States health system. Methods: Two sets of interviews: (1) seeking advice for designing outreach from a convenience sample comprising health professionals and members of the public both with and without FH and (2)) evaluating the outreach with a convenience sample of health professionals and patients who received the outreach. Two researchers conducted each interview. Thematic analysis included investigator triangulation. Results: We conducted 15 pre-outreach interviews and 32 post-outreach interviews. Most members of the public felt the outreach should be initiated by the patient's primary care clinician, while health professionals recommended outreach directly from a lipid specialist after notifying the primary care clinician. Outreach ultimately included primary care clinician notification; a mailed letter from lipid specialists to the patient indicating partnership with primary care; a message sent through the online patient portal; and a telephone call(s) from a lipid specialist to the patient. Phone calls were most impactful in prompting a clinical evaluation for FH. We identified 4 themes: (1) Both patients and clinical team members supported direct-to-patient outreach about FH; (2) Phone calls from lipid specialists to patients were considered high-value; (3) The importance of primary care team member involvement was perceived differently between pre- and post-outreach phases; and (4)) Outreach had a broader impact beyond the individual patients reached, including family screening. Innovation: This study provides key insights into the acceptable design and use of machine learning and electronic health record data for direct-to-patient outreach. Conclusions: Partnership with the target population led to direct-to-patient FH outreach that was acceptable to most recipients. High-touch engagement by lipid specialists included repeat phone calls, which maximized patients' response but are unlikely to be sustained in routine practice.
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spelling doaj-art-a0541eb8b9ae47b4af10bfa8f73b46c02025-08-20T03:07:51ZengElsevierPEC Innovation2772-62822025-06-01610040710.1016/j.pecinn.2025.100407A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and qualityRachel C. Forcino0Terry Sturke1Mary P. McGowan2Amanda N. Perry3Shoshana H. Bardach4Vikrant S. Vaze5Kerrilynn C. Hennessey6Department of Population Health, University of Kansas School of Medicine, Kansas City, KS, USA; Corresponding author at: 3901 Rainbow Blvd., Mail Stop 1008, Kansas City, KS 66160, USA.Family Heart Foundation, Fernandina Beach, FL, USAFamily Heart Foundation, Fernandina Beach, FL, USA; Heart and Vascular Center, Section of Cardiovascular Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USAThe Dartmouth Institute for Health Policy and Clinical Practice, Dartmouth Geisel School of Medicine, Hanover, NH, USAFamily Heart Foundation, Fernandina Beach, FL, USA; The Dartmouth Institute for Health Policy and Clinical Practice, Dartmouth Geisel School of Medicine, Hanover, NH, USAThayer School of Engineering at Dartmouth, Hanover, NH, USAHeart and Vascular Center, Section of Cardiovascular Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USABackground: Familial hypercholesterolemia (FH) is a genetic condition which elevates cholesterol levels and increases risk of premature cardiac events. Medical treatment greatly reduces those risks. However, in the United States, FH is markedly underdiagnosed. We aimed to design and evaluate direct outreach and referral to specialty care for patients with an elevated risk of FH identified through application of a machine learning model and expert review of the electronic health record in a rural United States health system. Methods: Two sets of interviews: (1) seeking advice for designing outreach from a convenience sample comprising health professionals and members of the public both with and without FH and (2)) evaluating the outreach with a convenience sample of health professionals and patients who received the outreach. Two researchers conducted each interview. Thematic analysis included investigator triangulation. Results: We conducted 15 pre-outreach interviews and 32 post-outreach interviews. Most members of the public felt the outreach should be initiated by the patient's primary care clinician, while health professionals recommended outreach directly from a lipid specialist after notifying the primary care clinician. Outreach ultimately included primary care clinician notification; a mailed letter from lipid specialists to the patient indicating partnership with primary care; a message sent through the online patient portal; and a telephone call(s) from a lipid specialist to the patient. Phone calls were most impactful in prompting a clinical evaluation for FH. We identified 4 themes: (1) Both patients and clinical team members supported direct-to-patient outreach about FH; (2) Phone calls from lipid specialists to patients were considered high-value; (3) The importance of primary care team member involvement was perceived differently between pre- and post-outreach phases; and (4)) Outreach had a broader impact beyond the individual patients reached, including family screening. Innovation: This study provides key insights into the acceptable design and use of machine learning and electronic health record data for direct-to-patient outreach. Conclusions: Partnership with the target population led to direct-to-patient FH outreach that was acceptable to most recipients. High-touch engagement by lipid specialists included repeat phone calls, which maximized patients' response but are unlikely to be sustained in routine practice.http://www.sciencedirect.com/science/article/pii/S2772628225000366Familial hypercholesterolemiaFormative evaluationDirect-to-patient outreach
spellingShingle Rachel C. Forcino
Terry Sturke
Mary P. McGowan
Amanda N. Perry
Shoshana H. Bardach
Vikrant S. Vaze
Kerrilynn C. Hennessey
A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
PEC Innovation
Familial hypercholesterolemia
Formative evaluation
Direct-to-patient outreach
title A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
title_full A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
title_fullStr A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
title_full_unstemmed A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
title_short A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality
title_sort novel outreach approach for identification of familial hypercholesterolemia interview based formative evaluation to improve healthcare access and quality
topic Familial hypercholesterolemia
Formative evaluation
Direct-to-patient outreach
url http://www.sciencedirect.com/science/article/pii/S2772628225000366
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