ATLANTA (GenomeWeb) – Genetic counseling can help patients newly diagnosed with a heart condition feel less fearful and more empowered, according to a study presented here at the National Society of Genetic Counselors annual meeting.
Recent guidelines have recommended genetic counseling and testing for inherited heart diseases, which has increased not only demand for genetic counselors but also outcomes data on genetic counseling, according to Brittney Murray, a genetic counselor at Johns Hopkins University.
She and her colleagues surveyed adults who underwent genetic counseling at Hopkins' Arrythmogenic Right Ventricular Dysplasia (Cardiomyopathy) Program. Using five different measures, they sought to characterize how genetic counseling affected patients' empowerment, knowledge, and anxiety, as well as their relationship with their counselor and satisfaction with their service.
"Genetic counseling was associated with significantly increased empowerment," Murray said. "We were encouraged by that."
She and her team queried patients who had never received any genetic counseling both before and after their counseling session. Of the 203 patients they contacted, 117 responded. The patients included individuals diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) and arrhythmogenic cardiomyopathy, as well as family members and individuals who turned out to be misdiagnosed.
ARVC affects between 1 in 1,000 and 1 in 1,250 people, according to the US National Institutes of Health, and is linked to sudden cardiac death. Variants in more than a dozen genes have been linked to ARVC.
To ask patients about their counseling experiences, the researchers turned to four previously developed measures, including the Genetic Counseling Outcomes Scale and the Cardiac Anxiety Questionnaire. These surveys include about five to 24 items that are measured on a five-or seven-point scale. They also developed their own seven-question education survey, as there was no such previous questionnaire, to gauge patients' knowledge.
Genetic counseling, Murray reported, is associated with an increase in patients' empowerment. She noted that while "empowerment" can be a fuzzy term, her team relied on a definition that encompasses feelings of control — such as over their decisions and behavior — and hope. This increased by 13 percent between pre- and post-test time.
Cardiac patients like those in Murray's cohort often have cardiac-specific anxiety, which can manifest as fears specific to their disease, heart-specific fears, excessive symptom monitoring, and avoidance behaviors. When they measured this prior to genetic testing in the cohort, they found anxiety levels to be very high. After testing, patients' anxiety remained high, but the fear aspect of that measure diminished.
In addition, she found that the level of pre-counseling anxiety was a significant predictor of the efficacy of the genetic counseling session: if there was little change in anxiety before and after counseling, the efficacy of counseling was lower.
"Greater anxiety limits the impact of genetic counseling," Murray said. She noted that knowing that patients' anxiety was high could help genetic counselors work to take steps to alleviate it prior to their visit, though she added that more information was needed.
The relationship between patient and genetic counselor also affected outcomes: Murray found that the stronger the relationship, the stronger the change in outcomes. This led Murray to offer a new model that includes an interplay between anxiety and empowerment and the patient-counselor relationship and empowerment.
She and her colleagues were unable, though, to measure the effect of genetic counseling on patients' knowledge. This part of their study relied on a measure they developed themselves, which she said might benefit from further testing and tweaking.
Other limitations include that the study focused on a single center with one genetic counselor.
Overall, though, the respondents were highly satisfied with their genetic counseling experience, rating it 4.74 on a five-point scale, Murray reported.