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Genetic counseling may improve outcomes in inherited CVD

Genetic counseling has been shown to play an important role in improving outcomes in patients who inherited CVD in a study previously presented at a conference held by the National Society of Genetic Counselors. Cardiology Today spoke with Brittney Murray, MS, CGC, genetic counselor in the arrhythmogenic right ventricular dysplasia/cardiomyopathy program at Johns Hopkins Hospital, about the study she and her colleagues conducted and how genetic counseling can be beneficial in this patient population.

Question: What are the major takeaways from this study?

Answer: We assessed what the clinical outcomes of genetic counseling were for inherited cardiovascular diseases. We were able to show for the first time that it does improve outcomes.

The outcomes that we chose were cardiac anxiety and then also a construct called “empowerment,” which is a compilation of a bunch of things like behavioral control, decisional control, feeling optimistic about the future and feeling secure in the health care system. We showed that before and after a genetic counseling visit, we were able to increase this feeling of empowerment and reduce fear specifically as part of cardiac anxiety around these diagnoses. This was especially when the patient or their family were able to establish a therapeutic alliance with the genetic counselor, so the stronger their relationship with the genetic counselor, the better these outcomes.

Q: What were some of the major components of genetic counseling that made it successful?

A: We talk a lot about breaking down different portions of the disease. Many times, this is a new diagnosis, it’s really overwhelming. As part of the session, the genetic counselors were often talking about the condition and giving patients a lot of information.

We also break down, practically speaking, the next steps: management, the genetic testing process, how it’s inherited, how we are going to take care of both them and their families and next steps from there. Many patients come away from that feeling like they have better control over this genetic diagnosis as opposed to not feeling like this is something that they had any way of managing.

Q: Does the timing of genetic counseling matter?

A: One of the other important things that this study showed is that of the patients that were referred to the center, half of them already had genetic testing previous to their appointment with the genetic counselors, and they had no difference in outcomes.

It’s also important that we can involve genetic counselors at any point for these patients. It doesn’t mean that you don’t have to see a genetic counselor if you’ve already had genetic testing done. Genetic counseling can really bring value to these families anywhere in their journey.

Q: How easily do you think genetic counseling like this can be implemented in clinical practice?

A: It would be pretty easy with proper training. All of these components are part of the scope of practice of any genetic counselor, so they would be in any genetic counselor’s toolbox. It’s more about education about the condition. Any genetic counselor should be able to perform this type of service for their patients.

Q: What implications do these findings have on clinical practice?

A: What it showed is what we were hoping to provide some data around about the value of a genetic counselor as part of the multidisciplinary team in taking care of these families with inherited cardiac disease. It reinforces that involving a genetic counselor in their care can improve their outcomes.

Q: What further research is needed in this area?

A: A lot of further research is needed. This is a preliminary study. This is the first time that this has been shown. We need to repeat this study in more diagnoses. This was done in a very specific tertiary referral center for arrhythmogenic cardiomyopathy, so there are a lot more cardiac diseases.

We really need to expand it to other diseases and other centers. This is in a tertiary academic center, so we hope to show that this can be done even in community hospitals as well.

We also really need to be able to understand more of what these outcomes mean and how they translate into what we think about as typical hard clinical outcomes. Do they actually have an effect on overall long-term health or well-being? We don’t really understand those yet. This is the first step. – by Darlene Dobkowski

Reference:

Murray B. Jane Engelberg Memorial Fellowship Presentation. Presented at: National Society of Genetic Counselors 37th Annual Conference; Nov. 14-17, 2018; Atlanta.

For more information:

Brittney Murray, MS, CGC, can be reached at bmurray@jhmi.edu; Twitter: @murray_bdye.

Disclosure: Murray reports she is a consultant for Clear Genetics, My Gene Counsel and PWN Health.