Related Experiment Video
Updated: Jun 4, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Patient digital self-screening tool for familial hypercholesterolaemia: A pilot study
Stephanie Eid1, Katrina Giskes2, Donna Jeong3
1MChD, BMedSci, FRACGP, General Practice Registrar, Department of General Practice, School of Medicine, University of Notre Dame, Sydney, NSW.
Background And Objectives:
Familial hypercholesterolaemia (FH) is a genetic condition contributing to premature cardiovascular disease. Currently, general practitioners (GPs) do not proactively screen for the condition. This study implemented and evaluated a digital FH self-screening questionnaire administered in general practice.
Method:
Patients aged 18-60 years in four general practices were sent an FH screening questionnaire via SMS prior to their GP appointment. The survey identified at-risk patients, and results were exported to the patients' electronic medical record.
Results:
In all, 1258 patients were sent the survey; 234 (18.6%) interacted with it, 137 completed self-screening and nine patients were identified as high risk. Self-screening took 3.5 minutes (on average) and was positively evaluated by patients.
Discussion:
This proof-of-concept study identified that FH self-screening can be implemented, but further refinements to the self-screening method and interface might be required for greater patient engagement. FH self-screening has the potential to increase FH detection and reduce preventable cardiovascular disease.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
12:40Using Human Induced Pluripotent Stem Cell-derived Hepatocyte-like Cells for Drug Discovery
Published on: May 19, 2018