A5003638008- Lipoproteins and Cardiovascular Health
- Health Systems, Economic Evaluations, Quality of Life
- Pharmaceutical Economics and Policy
- Health and Medical Research Impacts
- Pharmaceutical Practices and Patient Outcomes
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Muscle and Compartmental Disorders
- Ethics in Clinical Research
- Pharmaceutical industry and healthcare
- Chronic Disease Management Strategies
- Parvovirus B19 Infection Studies
- Medication Adherence and Compliance
- Abdominal Trauma and Injuries
- Complement system in diseases
- Venous Thromboembolism Diagnosis and Management
- Liver Disease and Transplantation
- Genetic Associations and Epidemiology
- Diabetes Treatment and Management
Geisinger Health System
2020-2024
Genomic Health (United States)
2023-2024
Geisinger Medical Center
2020-2023
Danville Community College
2022
Pittsburg State University
2021
Washington University in St. Louis
2020
St George's Hospital
2014
University of California Davis Medical Center
2005
Background: Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, associated with increased risk of premature atherosclerotic disease, leading cause preventable death in United States. Although FH common, fatal, and treatable, it underdiagnosed undertreated due to a lack systematic methods identify individuals limited uptake cascade testing. Methods Results: This mixed-method, multi-stage study will optimize, test, implement innovative...
Relatives of probands diagnosed with familial hypercholesterolemia (FH) should undergo cascade testing for FH.
Abstract Background This project aimed to optimize communication strategies support family about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Individuals families with FH provided feedback on multiple including: a letter, digital tools, direct contact. Methods Feedback from participants was collected via dyadic interviews ( n = 11) surveys 98) their proposed implementation uptake. We conducted thematic analysis identify how each strategy....
Importance Screening unselected populations for clinically actionable genetic disease risk can improve ascertainment and facilitate management. Genetics visits may encourage at-risk individuals to perform recommended management, but little has been reported on genetics visit completion or factors associated with in genomic screening programs. Objective To identify postdisclosure a cohort. Design, Setting, Participants This was cohort study of biobank data health care system central...
Individuals with complex dyslipidemia, or those medication intolerance, are often difficult to manage in primary care. They require the additional attention, expertise, and adherence counseling that occurs multidisciplinary lipid clinics (MDLCs). We conducted a program evaluation of first year newly implemented MDLC utilizing RE-AIM (reach, effectiveness, adoption, implementation, maintenance) framework provide empirical data not only on but also components important local sustainability...
Background Data mining of electronic health records to identify patients suspected familial hypercholesterolemia (FH) has been limited by absence both phenotypic and genomic data in the same cohort. Methods Results Using Geisinger MyCode Community Health Initiative cohort (n=130 257), we ran 2 screening algorithms (Mayo Clinic [Mayo] flag, identify, network, deliver [FIND] FH) determine FH genetic diagnostic yields. With 29 243 excluded Mayo (for secondary causes hypercholesterolemia, no...
To assess use of two web-based conversational agents, the Family Sharing Chatbot (FSC) and One Month (OMC), by individuals with familial hypercholesterolemia (FH).FSC OMC were sent using an opt-out methodology to a cohort receiving FH genetic result. Data from 7/1/2021 through 5/12/2022 was obtained electronic health record chatbots' HIPAA-secure web portal.Of 175 subjects, 21 (12%) opted out chatbots. Older more likely opt out. Most (91/154, 59%) preferred chatbots via patient EHR portal....
Guided by the Conceptual Model of Implementation Research, we explored acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) (2) family communication methods including chatbots direct contact communicate information about inherited risk FH. Focus groups were conducted with 22 individuals FH (2 groups) 20 clinicians (3 groups)....
Abstract Motivating at-risk relatives to undergo cascade testing for familial hypercholesterolemia (FH) is critical diagnosis and lifesaving treatment. As credible sources of information, clinicians can assist in family communication about FH motivate uptake. However, there are no guidelines regarding how should effectively communicate with probands (the first person diagnosed the family) relatives. Individuals families inform our understanding most effective communications promote testing....
To explore alignment of perspectives from individuals and families with familial hypercholesterolemia (FH) to the FH Global Call Action recommendations.Interviews focus groups were conducted multiple U.S. health systems Family Heart Foundation community capture lived experiences identify barriers diagnosis, cascade testing, treatment. Participant examined classified, according their recommendations Action.A total 75 analyzed. Participants majority female, mostly white, older, well-educated....
The IMPACT-FH study implemented strategies (packet, chatbot, direct contact) to promote family member cascade testing for familial hypercholesterolemia (FH). We evaluated the impact of genetic counseling (GC) on medical outcomes, strategy selection, and testing. Probands (i.e., patients with FH) were recommended complete GC select sharing strategies. Comparisons performed both outcomes selection between probands or without GC. GEE models Poisson regression used examine relationship proband...
Introduction Familial hypercholesterolemia (FH) is a common inherited cholesterol disorder that, without early intervention, leads to premature cardiovascular disease. Multilevel strategies that target all components of FH care including identification, cascade testing, and management are needed address gaps exist in care. We utilized intervention mapping, systematic implementation science approach, identify match existing barriers develop programs improve Methods Data were collected...
A 56 year old man presented with a seven day history of worsening epigastric pain associated nausea and belching. He had splenectomy (after trauma), hyperlipidaemia, obesity, Bell’s palsy. Abdominal computed tomography in 2007 shown multiple abdominal nodules consistent splenunculi but nothing else note (splenunculi are accessory “miniature spleens” composed normal splenic tissue that can partially compensate take over the vital functions spleen after splenectomy). recently been prescribed...
Introduction: Despite familial hypercholesterolemia (FH) being a common cardiovascular genetic disorder, it is vastly underdiagnosed and undertreated. This partly due to the lack of systematic screening methods identify possible FH little no implementation cascade approaches in US. Screening models, such as machine learning algorithms, family communication for screening, chatbot technology direct contact at-risk relatives by clinician, may help close gap identification. Methods: Focus groups...
Abstract Background . Individuals with complex dyslipidemia, or those medication intolerance, are often difficult to manage in primary care. They require the additional attention, expertise, and compliance counseling that occurs multidisciplinary lipid clinics (MDLCs). We conducted a program evaluation of first year newly implemented MDLC utilizing RE-AIM (reach, effectiveness, adoption, implementation, maintenance) framework provide empirical data not only on but also components important...
Guided by the Conceptual Model of Implementation Research, we explored acceptability, appropriateness, and feasibility of: 1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) 2) family communication methods including chatbots direct contact communicate information about inherited risk FH. Focus groups were conducted with 22 individuals FH (2 groups) 20 clinicians (3 groups)....
Abstract Background . Individuals with complex dyslipidemia, or those medication intolerance, are often difficult to manage in primary care. They require the additional attention, expertise, and compliance counseling that occurs multidisciplinary lipid clinics (MDLCs). We conducted a program evaluation of first year newly implemented MDLC utilizing RE-AIM (reach, effectiveness, adoption, implementation, maintenance) framework provide empirical data not only on but also components important...