Genetic Counseling Services for Families Impacted by Familial Diseases [Interview] [Transcript]

Karmen_Trzupek_Genetic_Counseling_ServicesGuest: Karmen M. Trzupek
Presenter: Neal Howard
Guest Bio: Karmen Trzupek currently leads the Ocular Genetics team and Rare Disease Outreach programs at InformedDNA. In 2008, Karmen joined InformedDNA and developed the first telephone-based genetic counseling program for patients with blinding conditions. She currently manages several rare disease outreach programs at InformedDNA.

Segment overview: In this segment, Karmen M Trzupek, MS, CGC, of InformedDNA. discusses the importance of Genetic Counseling Services, especially for families impacted by familial diseases.

Transcription
Health Professional Radio – Genetic Counseling Services

Neal Howard: Hello and welcome to the program, I’m your host Neal Howard here on Health Professional Radio for this Health Supplier Segment. Inheritable health conditions present some very unique concerns for those affected. Our guest today is genetic counselor Karmen Tzrupeck. She’s here with us representing Informed DNA and she’s here to talk about the importance of counselling services especially for families impacted by familial diseases. Welcome to Health Professional Radio Karmen Tzrupeck.

Karmen Tzrupeck: Thank you so much. It’s nice to be here.

N: Thanks for joining us today. You’re a counselor, you’re a genetic counselor. I’ve heard of mental health counseling, drug counseling, all types of counseling. When it comes to genetic counseling, what exactly are we talking about? What does that entail?

K: Well genetic counseling is a unique profession that blends clinical and medical genetics expertise with counseling for families. We tend to counsel individuals but then sometimes also larger families regarding the impact of a particular disease on that individual in the family. And then on the broader impact for the family regarding who else might be at risk.

N: We’re not just talking about at risk for cancer. We’re talking about all types of diseases, multiple sclerosis, all types of things that can have a genetic cause, yeah?

K: That’s right. Most of the conditions that we provide genetic counseling for are Mendelian conditions. For the most part, they’re single gene conditions not multifactorial diseases. But, it’s across a wide range of disciplines so as you said, that’s way more than cancer.

N: Now, do you provide counseling when it comes to giving birth as far as planning of family, are those counseling services include as well at Informed DNA?

K: We did it for a certain extent, it’s interesting the field of genetic counseling really began with reproductive genetics and helping women and couples who had a known reproductive risk. But the field has grown pretty dramatically and that’s a very small part of what we do at Informed DNA. The vast majority of what we do is really regarding the risk of a particular condition for an individual and for their family, and that can include the risks for passing that onto a child that is not typically the focus of the conversation.

N: When is the determination made that family counseling is necessary as opposed to just individual counseling or letting the person affected deal with their family on their own? Is that a decision that you make or is this something that you counsel with your clients?

K: Well we virtually always start with the patient and provide counseling to the patient. Part of that counseling is about the disease itself, about what to expect, and whether or not there are any kind of treatments available, so part of that has overlapped with what our physician or a nurse might do regarding prognosis. And then, we’ll also talk with patient about other family members who may be at risk, and talk to them about reaching out. And then, that individual, that first patient, often will express some reluctance about reaching out to family members certainly not always every person is unique. But, they often will express some reluctance with reasoning behind it and so we just try to help to discuss the issues, maybe behind that, there are of course a lot of just general family issues that come up about whether or not somebody feels comfortable reaching out to a family member. Sometimes it’s just as simple as they don’t understand that condition and the inheritance well enough to feel like they’d be the right person to reach out, but they want to do it. So we provide them with resources and then provide the opportunity for their family members to have a follow up appointment.

N: Once it’s determined that one of your clients or patients has a genetic healthcare condition, does your counseling cover life-threatening condition? Do you get into deep counseling? Or do you refer when something serious is discovered?

K: We do provide counseling for lots of very serious and sometimes life-threatening conditions. One of the conditions in fact that, we have a program that we’re focusing on right now in doing both patient and provider outreach, and education, and support around it’s a condition called a ‘Hereditary TTR Amyloidosis’, which is a very serious condition often causes a very severe progressive polyneuropathy and it’s a dominantly inherited condition. Often, someone who’s affected will have many at risk family member. Sometimes, the initial patient who we talked to is actually a family member who knows that they have someone in their family who’s affected, they’ve seen as to be your condition, they don’t know what the likelihood is that they might develop that and they’re worried. They want to know what resources there are and they want to talk through whether or not that make sense to be tested. It’s very common that we talk to people who have or who are at risk of really very serious diseases.

N: There are some diseases that are considered rare and when a disease is considered rare, sometimes funding for research and support is not as readily available as some of the other, your cancers, your multiple sclerosis, diseases of that nature. Talk about some of the counseling that you offer giving families information about how they can take advantage of some programs that exist, should they encounter one of these rare diseases that may not offer ready support.

K: It’s very true. There are a couple of issues there with regards to rare diseases. One of them is that the resources as you pointed out. Another one is that it’s often very difficult for patients with a rare disease to find somebody who knows very much about it and the rare the disease gets the sort of more common that problem becomes. Part of what our model is built on is this idea that if we do telemedicine and we do telephone based genetic counseling appointments, we can really pair individuals and families who have very rare genetic disorders with the genetic counselor who knows of lot about that condition. So you’re not talking about getting a family to maybe fly to Boston to the big clinical center where they do research in that condition. You can talk over the phone and then you can try the services to anywhere, to anyone anywhere in the country.

N: I don’t believe that I’ve heard of such a service being offered within telemedicine. Is it something that you and Informed DNA have developed?

K: Yes. I would say telemedicine is growing, certainly within the United States. Telemedicine is growing and in other parts of the world, it’s beginning too. But in terms of rare disease I think this is something that we felt very strongly about for a long time, it’s a real benefit of telemedicine.

N: And you spearheaded this telephone based genetic counseling program there at Informed DNA?

K: Yes, we did.

N: Informed DNA, when did you join Informed DNA?

K: I’ve been working for Informed DNA for about 7 years. During that time, have done all telemedicine. Prior to that, I worked in a more traditional clinical environment where I was face to face with patients in a large hospital setting. It’s really quite different for me to transition to this environment but it’s been a wonderful shift, I feel like I can really provide services to many, many patients and families who otherwise would never have received services because they don’t have the resources to travel to the clinical centers.

N: How informative is your website? Talk about your web presence.

K: Well our website through Informed DNA, I would say it’s just truly a gateway. It’s a place where we try to just provide enough to get people to the right place to make an appointment. Our model really isn’t about providing lots and lots of broad general information because we believe strongly that every single person has unique experiences, unique family situations where an individualized appointment is really better for them. Some of the programs that we’re working with, currently we’re working with one program in particular, I mentioned before with hereditary TTR amyloidosis. There’s a program that’s sponsoring that called ‘Alnylam Act’. Their website does have a pretty good presence, they have some really good general information. But then again, they have recognized that individuals and families come up this disease with different questions and different needs. So then they’re offering the genetic counseling through us.

N: And that’s informeddna.com?

K: Yes.

N: Informeddna.com, great. Well it’s been a pleasure talking with you this afternoon Karmen.

K: Thank you so much. It was my pleasure as well.

N: Thank you. You’ve been listening to Health Professional Radio in this Health Supplier Segment. I’m your host Neal Howard, in studio with Karmen Tzrupeck. Genetic counselor with Informed DNA and we’ve been talking about the importance of counseling services especially for families impacted by familial diseases. Their website is informeddna.com. Transcripts and audio of this program are available at healthprofessionalradio.com.au and also at hpr.fm. You can subscribe to this podcast on iTunes, listen in and download on SoundCloud.

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