Status:

ENROLLING_BY_INVITATION

Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing

Lead Sponsor:

Johns Hopkins University

Collaborating Sponsors:

National Human Genome Research Institute (NHGRI)

Conditions:

Genetic Counseling

Inherited Cardiac Disease

Eligibility:

All Genders

18+ years

Phase:

NA

Brief Summary

Although pre-test genetic counseling is widely recommended and has come to dominate genetic counseling practice, tailored results-focused genetic counseling could both increase genetic counseling effi...

Detailed Description

This is a three-arm randomized clinical trial with a parallel-group design comparing usual care (pre-test genetic counseling, test results by phone/electronic health record (EHR)) to two approaches to...

Eligibility Criteria

Inclusion

  • Cardiovascular panel testing inclusion criteria:
  • Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
  • Clinical diagnosis or suspected clinical diagnosis of a potentially inherited cardiovascular disease including a) hypertrophic, dilated, or arrhythmogenic cardiomyopathy, b) ventricular or atrial arrhythmias or an ECG-pattern suspicious for an inherited cardiovascular disease including catecholaminergic polymorphic ventricular tachycardia, long QT syndrome, or Brugada syndrome, or c) a diagnosed or suspected lipid disorder or early-onset coronary artery disease,
  • next-generation cardiovascular sequencing panel clinically indicated.
  • Family specific variant testing inclusion criteria:
  • Adult (age 18+) scheduled for outpatient genetic counseling in the Johns Hopkins Center for Inherited Heart Diseases,
  • Documented pathogenic or likely pathogenic variant in a gene associated with a hereditary cardiomyopathy, arrhythmia syndrome, or lipid disease in a family member,
  • Referred to the Center for Inherited Heart Diseases for family-specific variant testing.

Exclusion

  • Previous genetic counseling at Johns Hopkins for this clinical indication,
  • Previous genetic testing that definitively identified the genetic cause of the patient's condition,
  • Patient unable to speak or read English,
  • Genetic counseling appointment is not anticipated to include genetic testing (for instance if it was scheduled to discuss family communication or adaptation to a new diagnosis),
  • Next generation sequencing panel not clinically indicated (panel cohort only).

Key Trial Info

Start Date :

December 20 2022

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

September 1 2026

Estimated Enrollment :

510 Patients enrolled

Trial Details

Trial ID

NCT05422573

Start Date

December 20 2022

End Date

September 1 2026

Last Update

July 10 2025

Active Locations (1)

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Johns Hopkins University

Baltimore, Maryland, United States, 21287