Genetic Cascade Screening for Familial Hypercholesterolemia

How can the uptake of genetic cascade screening for familial hypercholesterolemia be improved when health care practitioners cannot directly contact relatives?In this randomized clinical trial of 87 families with genetically confirmed familial hypercholesterolemia, 30% of relatives in the intervention arm underwent genetic testing when given access to web-based communication technologies compared with 17% in the usual care arm, representing a significant difference.This study’s results suggest that leveraging communication technologies may enhance effectiveness of genetic cascade screening programs for familial hypercholesterolemia.

Corresponding Author: David Nanchen, MD, Center for Primary Care and Public Health (Unisanté), University of Lausanne, Route de la Corniche 21, 1010 Lausanne, Switzerland (david.nanchen@unisante.ch).

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