# Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FH

> **NIH NIH R01** · GEISINGER CLINIC · 2022 · $699,853

## Abstract

Project Summary
Identifying the >1 million individuals with familial hypercholesterolemia (FH) in the U.S. will lead to reduced
morbidity and mortality due to atherosclerotic cardiovascular disease. To achieve population health impact of
identifying individuals with this genetic condition, systematic cascade testing to identify all affected at-risk
relatives must also commence. However, both under-identification of index patients, and low uptake of cascade
testing, limits the potential population health impact. Therefore, this proposal will address these critical gaps in
translational cardiovascular medicine by studying 1) innovative index patient identification methods via both
phenotypic algorithms that utilize electronic health record (EHR) data, and genomic analysis of next-generation
sequencing data; 2) the effectiveness of patient-centered approaches for family communication assistance to
promote patient activation toward cascade testing uptake; and 3) feasibility, acceptability, and cost of these
methods using an implementation science framework towards the goal of defining best practices for FH
identification and cascade testing. This study is a collaboration between Geisinger and The FH Foundation. We
will utilize Geisinger's MyCode® Community Health Initiative (MyCode), a biobank linked to the EHR available
for research, which has >200,000 patient-participants enrolled with exome sequencing on ~93,000, with tens of
thousands more anticipated over the course of this study. In Aim 1, we will evaluate FH identification methods,
including two phenotype-based algorithms, which will be applied to the EHR of MyCode participants. We will
also assess the ability to detect FH through exome sequencing in the same cohort and will critically evaluate the
comparative positive and negative predictive values of each method. By utilizing interrelatedness data available
via MyCode, high-throughput phenotyping on relatives' EHR data will be performed to augment each algorithm's
performance. In Aim 2, we will utilize design thinking to develop novel, patient-centered family communication
and cascade testing strategies to activate patients to uptake cascade testing, the primary outcome of Aim 2,
which will be measured by laboratory records from Invitae and by relatives' self-report. These novel approaches
will be presented to FH probands in a prospective, observational comparative effectiveness study. In Aim 3,
guided by Proctor's conceptual model for implementation research, we will evaluate implementation outcomes
at the system, clinician, and patient levels to create a model for integrated FH care. This will be accomplished
via qualitative research including interviews and focus groups of FH patients, their at-risk relatives, and FH
healthcare providers as well as intervention mapping. The main outcomes to be collected are feasibility and
acceptability. Microcosting analysis will also be performed to inform cost impact. These evaluations will inform
the ...

## Key facts

- **NIH application ID:** 10451760
- **Project number:** 5R01HL148246-04
- **Recipient organization:** GEISINGER CLINIC
- **Principal Investigator:** Laney K Jones
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $699,853
- **Award type:** 5
- **Project period:** 2019-08-15 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10451760

## Citation

> US National Institutes of Health, RePORTER application 10451760, Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FH (5R01HL148246-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10451760. Licensed CC0.

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