Comparing Direct vs Indirect Methods for Cascade Screening

Launched by UNIVERSITY OF MARYLAND, BALTIMORE · Apr 20, 2022

Keywords

ClinConnect Summary

This clinical trial is studying the best ways to reach out to family members of individuals who carry specific genetic variants linked to conditions like Long QT Syndrome and Familial Hypercholesterolemia. The goal is to find out whether having study team members directly contact relatives or having the individuals themselves (called probands) reach out to their family members is more effective for encouraging screening. Screening is important because it can help identify at-risk family members and provide them with the necessary support and testing.

To participate in this study, you must be at least 18 years old and carry one of the genetic variants (KCNQ1 Met224Thr or APOB Arg3527Gln). If you are eligible, you will be randomly assigned to either the direct or indirect contact group. Regardless of the group, all family members will receive counseling before and after genetic testing, which will be done using a simple saliva sample taken at home. This trial is currently recruiting participants, and it aims to understand not just how effective the screening is, but also how it affects the mental and emotional well-being of both the probands and their family members.

Gender

ALL

Eligibility criteria

• Proband Inclusion Criteria:
• • KCNQ1 Thr224Met or APOB R3527Q carrier
• • 18 years or older
• Proband Exclusion Criteria:
• • None
• Family Inclusion Criteria:
• • 1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier
• Family Exclusion Criteria:
• • None