Advances in Genetic Testing [Interview][Transcript]

Tricia_Paige_Advances_Genetic_TestingGuest: Tricia Paige
Presenter: Neal Howard
Guest Bio: Tricia Paige is a Senior Director with the JScreen program at Emory University in Atlanta, GA. At Emory, Tricia has worked as the Director of Genetic Counseling Services, Program Manager for Newborn Screening, and the Assistant Director of the Genomics and Public Health Program. In her current position, Tricia focuses on improving the delivery of genetic services from both an individual and public health perspective, especially in the realm of preconception carrier screening.

Segment overview: Tricia Z. Paige, MS, CGC, LGC, instructor at Emory University School of Medicine, discusses the biggest changes she has seen in genetics over her career, and what big changes are on the horizon.


Health Professional Radio – Advances in Genetic Testing

Neal Howard: Hello and welcome to Health Professional Radio, I’m your host Neal Howard. Thank you so much for joining us today. Our guest in studio today is Tricia Paige. She’s Senior Director with the JScreen program at Emory University in Atlanta, Georgia. She received her Bachelors of Science in Genetics from the University of Georgia and received a Master’s Degree in genetic counseling from the University of Texas Health Science Center in Houston. She is here today to speak with us about some of the changes that she sees in the genetic testing, the industry is only a few years old well not a few years I think since the late 60’s genetic testing has come on the scene in a more mainstream way. But today there have been so many advances. And she is here to talk about some of those advances and some of the advances that she sees on the horizon. How are you doing today Tricia?

Tricia Paige: I’m great, thanks so much.

N: Senior director with JScreen program, you’re a genetic counselor there at Emory University. You’ve been involved with genetic counseling for how long now?

T: Gosh, probably long and I don’t want to admit.

N: Be proud.

T: I think maybe 10 to 15 years if I’ve got to count.

N: So that’s long enough to see some well sweeping changes in any industry 10 to 15 years from the beginning of an industry up until the time that you entered it just 10-15 years ago. When it comes to DNA testing, genetic testing, we talked about genetic testing, test for predisposition to cancer or maybe some type of a birth defect or maybe even a disease other than cancer. What are some changes that you’ve seen since you’ve been in and some of the changes that you were told about from some of the folks that mentored you? And then well get into some of the things that on horizon in the future that you foresee, okay?

T: Yeah. Things have absolutely changed. I think one of the most fast-moving fields which I love. There is constantly something to learn as a genetic counselor so if you’re kind of a person who likes to learn then this is a field for you for sure.

N: Always changing.

T: Yeah, constantly changing… So when I finished graduate school there was genetic testing for around a hundred diseases.

N: Okay.

T: Now there are tests available for more than 3,000 diseases and our ability to just really try to find answers for people is so much greater today than what it was in the past.

N: You’re talking about finding answers for people, obviously having been in the industry for 10 to 15 years yourself, what types of advances in the understanding and the interpretation of say certain test results, you say there were hundred diseases that were available to be DNA tested, now there are over 3,000. As far as understanding and interpreting these results, are we getting any closer to absolutely wiping out any diseases on a genetic level?

T: No, I wouldn’t say that we’re close to wiping them out, or mostly we’re just seeing it today, honestly is still in the trying to provide answers phase. I will say one of them another great things that I see is that we really now are able to treat start treating things. There are new medications for example for conditions like “cystic fibrosis” that now that there medication specifically targeted to people with specific genetic changes. And then someone like have that particular mutation or genetic kind of variant then this medication is very effective for them. So treatments and that was really unheard of when I was in school and so it’s really kind of amazing to see that. But … of sort of our ability to understand because really that’s kind of the first step. If you’re going to treat someone, first you have to understand what’s going on with them. And when I started my career we were told there wasn’t really any kind of genetic cause for autism. For example we now know that in as high as 20% of cases there is a known genetic cause. And there are testing now that we can do, for people who do you know who are autistic to try to figure out what it is that is causing that and the next step will be being able to treat that and we’re not there yet. But we’re certainly making you know great strides in that direction. And I think we can overvalue the, if people just that we all want to know why something happens when possible. And sometimes people blame themselves if they have a child that have some kind of disability and so being able to provide an explanation I mean that’s true for autism, that it’s sure for so many parents that are just struggling to figure out. Even if there’s not anything today that you can do, having a name for what’s going on and then being able to connect with other parents who have children with similar conditions. And there are researchers who are working on that. Yeah, means the world, really. So yeah, it’s really great that we’re now able to do that. …a lot of work, yeah go ahead.

N: Well you mentioned the few number of diseases that you could test as opposed to the well over 3,000 that you can test now. Say JScreen is working on a cancer project, is JScreen involved in one project the entire lab and team? Or can you work on multiple project, say cystic fibrosis, cancer and Down syndrome at the same time?

T: Yes. So that’s another, I’m glad that you asked that. That’s another big change that has happened. So there is something now called multiplex testing. And JScreen actually really uses this. So we used to be able to test for one gene at a time and it would thousands of dollars to do that one gene of whatever it is, hundreds of dollars. We now are able to do again multiplex testing and what that means is that we can test for hundreds of conditions at the same exact time. And for the cost of what it would have been to do one test in the past. And so the tools that we have are just so much more powerful for being able to, the test at JScreen is currently using test for 104 different conditions at one time at one saliva sample. And so yeah that’s much more powerful and we can get people much more information because of that.

N: So it seems that the field of genetic counseling has benefited from the healthcare changes here in the United States as far as the cost. And when we’re talking about the cost, are there certain portions of DNA testing that insurance will or will not cover especially now in view of the Affordable Healthcare Act.

T: Right, yes. So the Affordable Care Act specifically talks about BRCA1 and 2 counts as genetic counseling …it has to be covered by our insurance plan that are making the standards. That they have to cover genetic counselling for people so that they can learn about what their risks are. Now that doesn’t extend always to the cost of testing but for most insurance carriers if you have genetic counselling and meet specific criteria and they as an sample like a woman who have her personal history of breast cancer or your mother have breast cancer, then you likely will able to meet guidelines, especially if that did happen at a younger age. And so then once you’re into genetic counseling, the testing can be you know easily organized and your insurance will probably cover most it. And they do that because you know this are really practical information that you can use to reduce your risk of cancer, either the first timer or getting it down the road. So yeah I mean it’s great that it’s starting to be really recognized as really important and insurance company they’re increasingly covering it which is great.

N: Great. Now as we wrap up could you talk a little bit about the JScreen program specifically at Emory University, what you’re involved in now? And as far as being able to test multiple conditions at once, do you see anything on the horizon maybe doubling the amount?

T: Yeah. I think that over time we are absolutely. So again now it’s a little bit less than a dollar condition to have screening thru us. And we screen around a hundred conditions. So I think shortly we simply started in 2013 we’ve increased the number of conditions several times and I think that trend is only gonna increase. The cost of testing for genetic testing is going down and the number of diseases, accuracy is going up. So there’s nothing really to do but just be very helpful about the fact that this is gonna be something that is gonna be useful and hopefully easy to access for everyone who needs it in the future.

N: You’ve been listening to Health Professional Radio, I’m your host Neal Howard. We’ve been in studio talking with Tricia Paige today, Senior Director with the JScreen program at Emory University in Atlanta, Georgia. And we’ve been here talking about some of the changes that she’s seen since she has been in the field of genetic counseling, some of the changes that she sees on the horizon, and the benefits of genetic counselling and screening overall. She is Senior Director with the JScreen program as I said, but she has worked as director of genetic counseling services, Program Manager for Newborn Screening and the assistant director of Genomics and Public Health Program. In her current positon she is focused on improving the delivery of genetic services from both individual and public health perspective, especially in the realm of preconception carrier screening. She’s a fourth generation Georgian, enjoying spending time with her family gardening and training for triathlons. It’s been great having you here with us today.

T: Thanks you so much. I really appreciate the opportunity.

N: Transcript and audio of this program are available at and also at and you can also subscribe to our podcast on iTunes.

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