Randomized clinical trial of the sequence of genetic counseling and testing to optimize efficiency, patient empowerment and engagement, and medical adherence for diverse genetic testing indications

NIH RePORTER · NIH · R01 · $308,700 · view on reporter.nih.gov ↗

Abstract

Project Summary Patients are increasingly seeking genetic counseling and testing for genome-guided medical management. There is an urgent need to re-examine the genetic counseling process to meet this growing demand. Genetic counseling standard practice is a pre-test genetic counseling appointment followed by a short session to return results. An emphasis on pre-test counseling to facilitate decision-making emerged with early models for Huntington disease testing and genetic testing done in conjunction with prenatal procedures with risk of fetal loss. There is little evidence this approach is optimal today. Shifting the primary genetic counselor-patient interaction away from labor-intensive, repetitive, universal pre-test counseling to results-focused, tailored post- test counseling has the potential to improve both patient outcomes and genetic counseling efficiency. Studies suggest models other than one-to-one genetic counseling by a genetic counselor can achieve adequate pre- test education. We recently developed educational genetics videos for the general population that are effective and engaging. In a pilot study we found pre- and post-test genetic counseling for arrhythmogenic cardiomyopathy led to similar increases in patient's empowerment and that post-test counseling reduced cardiac anxiety more. Furthermore, genetic information alone does little to prompt behavior change, suggesting a role for post-test counseling to activate behavioral responses. We propose a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session post-test for adults with two broad cardiovascular genetic counseling indications: panel testing and family-specific variant testing. We will compare usual care (pre-test genetic counseling appointment, results returned by phone) with online video-based pre-test genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. One intervention arm is designed to maximize efficiency by requiring only a single genetic counselor-patient interaction post-test with pre-test counseling primarily by video. The other retains both a pre- and post-test genetic counselor-patient interaction (one appointment, one phone call). This approach will allow us to pinpoint the tradeoffs involved in each. We hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar psychosocial impact. Our study will also generate a genetic counseling evidence base for understudied counseling indications. Our results have the potential to change the standard genetic counseling model for adults seeking genome-guided medical management to an efficient post-test model. Our multidisciplinary team is led by genetic counselors with substantial experience identifying and overcoming challenges in the genetic counsel...

Key facts

NIH application ID
10890827
Project number
5R01HG011902-04
Recipient
JOHNS HOPKINS UNIVERSITY
Principal Investigator
Cynthia A James
Activity code
R01
Funding institute
NIH
Fiscal year
2024
Award amount
$308,700
Award type
5
Project period
2021-09-22 → 2026-06-30