Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial

Area of Science:

• Genetics
• Cardiovascular Disease
• Digital Health

Background:

• Familial hypercholesterolemia (FH) is a common genetic disorder causing premature cardiovascular disease.
• Genetic cascade screening is crucial for FH but underutilized due to privacy concerns hindering direct contact with relatives.

Purpose of the Study:

• To evaluate if a web-based platform in patient-mediated genetic cascade screening for FH improves uptake compared to standard care.

Main Methods:

• An open-label, multicenter randomized clinical trial (CATCH) involving 87 index patients with FH and 359 relatives.
• The intervention group used a secure web platform for patient-mediated communication to relatives about genetic testing.
• The control group received usual care.

Main Results:

• Cascade screening uptake was higher in the intervention arm (30.4%) versus usual care (16.7%), with an odds ratio of 2.18 (P=.03).
• New case identification also increased significantly in the intervention group (17.0% vs 8.1%, OR=2.32, P=.03).
• Newly diagnosed FH patients often had untreated or modifiable risk factors.

Conclusions:

• A web-based platform enhances patient-mediated genetic cascade screening for FH, increasing participation and detection rates.
• Digital communication tools can improve the reach and effectiveness of genetic screening programs in privacy-sensitive healthcare systems.