On this episode of Healthful Woman, genetic counselor Estie Rose joins Dr. Fox. Estie works for JScreen, a not-for-profit organization that works with the Ashkenazi Jewish community, which is at a higher genetic risk for several conditions. She describes the process for genetic counseling in both reproductive and cancer genetics.
“Genetic Counseling and JScreen” – with Estie Rose
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Dr. Fox: Welcome to today’s episode of Healthful Woman, a podcast designed to explore topics in women’s health at all stages of life. I’m your host, Dr. Nathan Fox, an OBGYN and maternal fetal medicine specialist practicing in New York City. At Healthful Woman, I speak with leaders in the field to help you learn more about women’s health, pregnancy, and wellness.
All right. Estie Rose, welcome to the podcast. How you doing today?
Estie: I’m good. Thank you for having me.
Dr. Fox: It is a pleasure. So, you are from the organization JScreen, which we’re going to talk about, a terrific organization. But I was hoping you could give our listeners just a sense of who you are. Who is Estie Rose? Where are you from, how did you get into genetics, and so forth. Tell us your tale.
Estie: My “tale,” I love that. So, I’m Estie, I’m a genetic counselor. I graduated my genetics program in 2009 from the Mount Sinai program in New York. I am a New Yorker for life. So, I grew up in Queens, I now live on Long Island in the Five Towns area. And the reason I got into genetics is because when I was in college, in undergrad, I attended Stern College at Yeshiva University, I was always interested in the biology classes and the sciences, I have a lot of doctors in my family. Like, I knew I was going to do something in the medical field, but I wasn’t quite sure.
And I was lucky enough to meet a genetic counselor at NYU at their Cancer Center and I learned a little bit about BRCA testing and other types of genetic counseling, which I had never heard of before. And it was just so interesting to me and I saw how much she was able to help people who had no idea what was [inaudible 00:01:31]. And within a half an hour of meeting these people, they learned so much about themselves and about their risks and what they can do about it. I saw how empowering a genetic counseling session was and I said, “This is for me.”
It’s the perfect mix between science and medicine, and also just kind of that social aspect of helping people through a crisis. And I said, “This is definitely what I want to do.” I went straight from Stern to grad school and I’ve been doing it ever since.
Dr. Fox: And then when you finished your genetics grad school, where did you head for your first position?
Estie: So, my first position was at Montefiore Medical Center, which is in the Bronx. Montefiore has a very interesting population because it is not a city hospital, it’s a private hospital, but it’s in the Bronx. So, the patient population is very, very mixed. So, we had patients of all different backgrounds, different ethnicities, we had people who are Hispanic, people who are African American, people who are Bengali, people who are Jewish. It was just, like, such an interesting mix of people and it was the best place to train and to have my first position because I just learned so much in such a short span of time.
When I was there, aside from seeing patients from the hospital, I also helped start a new program called the Program for Jewish Genetic Health, which was part of Einstein Medical School and also part of Montefiore. It was kind of, like, a partnership where we helped people get carrier screening for conditions that affect people who are Ashkenazi Jewish. So, we helped people find this testing in an affordable way because it used to be very, very expensive to get this test. So, we started up this program where we would go out to different communities and we would provide testing in a much more affordable and accessible way.
Dr. Fox: That’s how you got connected with Nicole, right? My sister-in-law.
Estie: That’s how I got connected with Nicole, yeah. So, we would go to different synagogues and temples and [inaudible 00:03:05]. You would have people come to us at the office, also. We went out to Westchester, to different areas there.
And that’s kind of how we got into this Jewish genetics business together. And we saw that there was such a big need in the community for not only testing, but also education. We saw that people kind of knew that there was some kind of a, you know, genetic health crisis in people who have Jewish background, but they didn’t really quite understand how big that problem was and what they can do about it.
So, you know, I found this position to be very exciting for me because I got to educate. Not just do the testing and do the counseling, but I got to go out and speak and, you know, let people know that we exist. I got to write articles and blogs and kind of just spread the word about the importance of testing. And when we were there, in addition to doing carrier screening for conditions like Tay-Sachs, we also got into the business of BRCA, or rapid testing. Because people who have BRCA mutations, especially people who are Ashkenazi because they have a higher risk to have these mutations, are at very increased risk for certain cancers. And the community just didn’t know so much about that, so we got to educate them about their risks, as well, for BRCA mutations.
Dr. Fox: I remember that program, because, you know, for context for our listeners. So, Dr. Nicole Schreiber-Agus, or Nicole, who is my sister-in-law, is a bigwig in this field in the world of genetics. And I remember when she was doing this program. And at the time, I was sort of either in training or early on my career. And, you know, so we’re knee-deep in these types of topics when we’re training and we’re learning about them and thinking about them. And it was so fascinating to me, you know, when she’s talking to me about how nobody knows about this. Right? That there’s so little education about this outside in the world and how important that aspect was. And it was a really interesting, I guess, combination for me in what I was learning about in my own training and interacting with, you know, family, friends, and then in the real world. And it’s just a really cool program.
I remember I was at one of those events with her where she spoke to, you know, it was like a local synagogue. And, you know, like 100 people showed up and 99 of them had no idea about any of this. Which is remarkable because, you know, they’re highly educated people and, you know, they’re having kids and, you know, they’re in this world, but just didn’t know about it. And it was really pretty impressive.
And you also got connected with Tamar Goldwaser at the same place, right?
Estie: Yes. So, Tamar did her fellowship in genetics with us at Montefiore, so we kind of trained together in a way. So, she was on the medical side, I was on the genetic counseling side. Eventually, she became an attending with us and she just was so wonderful, you know, with patients, and she was just so sensitive and so kind and so knowledgeable with everything that she does. So, I’m one of her biggest fans. And Nicole is, too, by the way. I’m definitely, you know, up there in her fan club.
Dr. Fox: This is the Natty Fox worlds colliding.
Just so our listeners understand, also. What is your training to be a genetic counselor? We’re talking about, you know, you’re a genetic counselor and Tamar is an MD and Nicole is a PhD. And so when you’re at Mount Sinai, explain to our listeners exactly how long it is, what are you doing. And then sort of in your first job you mentioned you were also, even though you’re working, you’re training. How does that work?
Estie: Yeah. It’s really confusing, now that you put it that way. So, genetic counseling is a master’s degree. So, after I graduated college, I went for a master’s degree. It was a two-year program. I would say about half the time we were in the classroom just learning about genetics, learning about counseling skills, and the other half of the time we were doing clinical rotations. So, we were going to different departments at Mount Sinai and training to be a genetic counselor, so seeing patients, learning from other genetic counselors, learning on the job.
After you graduate, you get your first job. There is no internship or residency like there is for medicine, but I would say my first year or so I was kind of training. You know, even though officially I was working and making, you know, a normal salary, I was kind of learning myself what this genetics thing was. You know, I only had two years of training in school, so it was really helpful on my first job to have people and supervisors who helped me through, you know, the process of how to be a good genetic counselor. So, it’s a two-year master’s program, and then they just let you out into the real world of genetic counseling.
What Tamar did is she went to medical school, and then she did her residency in OBGYN, and then she did a two-year fellowship after that specifically in medical genetics. So, she had many, many more years of training than I did, which is why eventually she was my superior, she was our attending.
And what Nicole does is that she has a PhD in genetics. So, she went to a couple of years, I don’t know how long, but a couple of years of graduate school and got her PhD in genetics. She worked for many years in a lab.
Dr. Fox: It’s like five or six.
Estie: Yeah. It felt like 100, right? She worked for many years in the lab, she was a lab director. I mean, she’s had a million other responsibilities on top of working in labs. She never did, like, clinical work, so she doesn’t see patients herself, but she is kind of the brains behind it. So, any time… Even still, even though I don’t even work with her anymore. Any time I have a complicated genetics question, like, “What does this mutation mean?,” I always call Nicole. Like, she’s the person who just knows everything because she has this very strong background in medical genetics.
Dr. Fox: Right. And I think that’s really important for, you know, our listeners. The field of genetics, there’s a lot of professionals who work in that field. I don’t know if they really need to know, necessarily, the differences between their training, but just to know that there are differences.
So, for example, you know, genetic counselors, you know, have their training and their expertise and what they do and how they sort of function in a clinical relationship. And then there’s the physicians, even those who specialize in genetics, who have a separate role. And then there’s also the people, you know, on the PhD side who work with the research and the lab techniques. And each of them do different things and there’s obviously a lot of overlap. I mean, obviously with the content of what we’re doing there’s overlap, but even what they do there’s some overlap. But there are some things that are unique.
So, for example, most genetic counselors and medical geneticists would not be able to function themselves in a genetics lab. They wouldn’t know… You know, they wouldn’t know what they’re doing in there, right?
Estie: I would have no idea what I’m doing there.
Dr. Fox: Exactly, right. Because, you know, you wouldn’t be, you know, running this and running that. And so you need the people in the genetics lab who can do that, but also have an understanding of what are the clinical questions and what are the clinical ramifications. And on the flip side, someone who works in the genetics lab may never speak to a patient about a result. And so it doesn’t that, you know, human interaction, but they have to understand that the need to put the results in a way that someone can talk to them and explain it. And so there’s a lot of collaboration, as we say, between all the people who work in the world of genetics, and that’s really critical.
Estie: Yeah. And it’s not just the world of genetics. You know, we work in the OBGYN world and in the oncology world, as well. So, you know, we have a nice relationship with different oncologists who, you know, we run tests for their patients. Or OBGYNs who might do an ultrasound and see something abnormal, then they send them to genetics. So, and then we’ll send them the results and we’ll speak to them about, you know, possibly doing some procedure.
So, it’s not just geneticists working together, it’s genetics people also working with people in other disciplines. It’s a very, you know, nice relationship that we have in so many different disciplines. I didn’t even mention the pediatric realm. Like, we just have work to do with so many different types of medical professionals, it’s not just geneticists.
Dr. Fox: Part of that, or most of that, is because, as we know now, genetics is really, you know, woven into every medical specialty. There’s no specialty that doesn’t have to think about and work with genetics because it’s part of all human conditions and what’s…you know, what’s supposed to be and what’s sort of deviations from what’s typical. And there’s…it’s really involved in every field and you can’t have a medical field that does not have a genetic component to it. So, you’re really with everybody.
Estie: Yeah. And you couldn’t even say that a couple of years ago. You know, like, when I started my training, you just did this or that. You know, you had two options after you graduate. You know, and now there are genetic counselors in so many different specialties and so many areas of medicine that I never would have thought would have happened 10 years ago. It’s such a fast-paced world and so many new things are available, new positions are being opened, like, things that never existed before. So, it’s just a really exciting place to be.
Dr. Fox: Let’s talk about your transition to JScreen. When did you move into that organization? Was that recent?
Estie: Yeah. I just…I actually just celebrated my five-year anniversary just last week, so that was very exciting, yeah. So, I was at a transition in my life, I just had had my third baby and I was just ready to slow it down a little bit. Like I mentioned, I’m from Long Island. So, as anybody from the area knows, the commute from Long Island to Bronx is not fun in the morning, and I was just ready to make a change.
So, while I was on maternity leave, I actually got an e-mail about this new position at JScreen which they were hiring for. And I had already known about JScreen because they were already up and coming in the reproductive genetic counseling world and I thought very highly of them. I looked into the position and it was literally made for me. Like, it had my name on it.
It was…the position that I was looking for, or that I applied for, was a genetic counseling position, so a clinical position where I would see patients and, you know, deal with results and deal with new cases. But in addition to that, there was also an outreach component to it. So, the person that they were looking for was somebody who can go out to communities, who can write articles and papers, who can do podcasts like this, you know, somebody who was really passionate about bringing genetics to the community. And I said, “Wow, this is literally me.” You know, like, “They better hire me because it already has my name on it.
So, thank God it went well and I’ve been here for five years. And I have to say it’s just the perfect position for me because it combines my love for genetics and also my love for my own community. JScreen started out as a Jewish organization where, at the time, we were only testing for Jewish genetic diseases because that’s really all that was available at the time. But we’ve expanded a lot since then and now we are not just a Jewish community organization, we’re an organization for anybody who wants to know about their genetic information. We definitely do focus a little bit more on the Jewish community, but we can help anybody who has any genetic health needs.
I’m really happy because I get to use my expertise as a genetic counselor to also help my own community and to help people who I know and people who I love and, you know, want to be there for.
Dr. Fox: So, as a background, you know, the listeners to this podcast are both Jewish, non-Jewish, all of the above, none of the above. Some might not understand exactly why there’s a difference. Like, what does that even mean when you say “Jewish genetics”? What’s the principle behind that?
Estie: Yeah, that’s a good question. So, there are genetic conditions that tend to be more common in people of certain ethnicities. So, people who are Ashkenazi Jewish, which is basically another word for Eastern European Jewish, they tend to be more likely to be carriers for a bunch of genetic diseases. So, for example, Tay-Sachs disease, cystic fibrosis, Gaucher disease, BRCA mutations, like I mentioned before. People of that background tend to be more likely to be carriers for certain genetic diseases. But it’s not only people who have a Jewish background, there’s also other conditions and people of other ethnicities. So, for example, people who are African American or Hispanic tend to be more likely to be carriers for sickle cell disease. People who are Mediterranean are more likely to be a carrier for a condition called [inaudible 00:13:29]. People who are Caucasian are more likely to be a carrier for cystic fibrosis.
So, one’s ethnicity might have to do with their risk for having certain genetic diseases. It’s not exclusive to people of those ethnicities, so technically anybody can carry anything. But we do know that, based on your population and your background, you’re more likely to carry certain diseases.
It happens to be in the Ashkenazi Jewish community there are many more conditions than there are in many of these other populations that I mentioned. And because of that, any time somebody is planning to have a child, we always recommend that they do carrier screening to test or to see whether or not they’re actually a carrier for those things that they’re at higher risk to be a carrier for. Because if they are a carrier, it’s a good idea to test their partner. Because if their partner and they carry the same condition, then they’re children might be at risk to actually be affected and to have the condition.
So, I know that was very wordy. So, in other words, carriers of genetic diseases generally don’t know that they’re carriers because they don’t have any symptoms of the conditions they carry. But if we have a carrier couple where both the man and the woman carry the same condition, their kids can actually be affected and have the disease.
So, it’s always a good idea to test people who we think are more likely to be positive and be a carrier. Because if, in fact, they are a carrier, we’ll want to make sure that their partners are tested appropriately so we can, you know, be careful for the next generation.
Dr. Fox: Right. So, that was a terrific explanation and it was not too wordy, so don’t beat yourself up. But I think there’s a lot to unpack there. And one of the things that, you know, I speak about a lot with my own patients and also, you know, family and friends who ask me about this is this concept of Jewish genetics or going into, you know, sort of your ethnicity and, based on your ethnicity, figuring out what you’re at higher risk for. It’s absolutely true. I mean, the statistics back that up. But it was sort of born out of a time, let’s say 10, 20, 25 years ago, when doing the testing was really complicated, it was really expensive, and there wasn’t enough lab support.
So, for example, you know, why wouldn’t you test everybody on earth if they’re a carrier of Tay-Sachs? And they said, “Well, listen, we can’t test everybody. Like, there’s no way, we can’t pull that off. So, we’re going to focus the testing on people who are either Ashkenazi Jewish descent, because they’re more likely to have it, or someone maybe with a family history of Tay-Sachs,” something like that. And the same way, “Are we going to test everybody for cystic fibrosis?” “Well, I don’t know if we can.”
And so what happened was, like when I was training, it was very, very focused on, all right, get a detailed family history, a detailed, you know, ethnicity history, whatever that means. Everyone gets…you know, we’re all mixed, as we learn when we go into our histories. But, you know, try to figure out the best description of their ethnicity, and then tailor your genetic testing to those conditions to sort of be more either cost-effective or just to be able to not overwhelm the labs. But what’s happened in the past 20, 25 years is the technology has expanded so much and it’s so good and so much more efficient now that honestly, like, if I’m going to test someone for Tay-Sachs or 500 conditions, it’s the same test, the same cost, the same lab time. There’s really no difference other than maybe the counseling, because you’ll find out they’re carriers of more conditions.
And so there’s, I would say, less and less focus on the ethnicity nowadays than there was 20 years ago. Because, ultimately, what’s the difference, right? Just test everybody, it’s not that hard.
Estie: Yeah. Now we can say that.
Dr. Fox: Yeah.
Estie: So, now when we do carrier screening, it’s kind of, like, a one size fits all. Like, everybody gets tested for everything. Because why not, right? Like, it’s easier to miss things when you’re more focused. So, why miss things when you don’t have to miss things anymore?
At JScreen, our test now tests for 226 conditions and the price is only $149. So, it’s the same price if you test for Tay-Sachs or if you test for all 226.
Dr. Fox: Yeah.
Estie: So, might as well test for all 226 and learn more about your carrier status so that you could know for your future generations and you can also tell your family members who are also at risk and who might want to get tested, as well.
Dr. Fox: Right. And it’s also… And I remember when I was…when I got tested, you know, for the genetic testing. So, we’re talking 25 years ago. Each test was like $800. It was crazy, it’s like, “Whoa.” Like, “All right, let’s figure out which ones we need to do.” And again, like you said, that’s not the case now just because the lab technology has gotten much more efficient and you can run it on a mass scale that it doesn’t make a difference how many you test for. You know, that’s number one and that’s really important.
And also, there is this concept in medicine that we don’t want to, like, over-test and find things. Because if you do 100 tests on people, things will come back, you get false positives and you scare people. But this is not really like that. You’re actually testing their genome. Like, “This is your genetic makeup,” right? “You do carrier this condition.” Now the question is, “Does it matter?” Right? So, it only matters if…you know, for the vast majority of them, if your partner carriers the same condition and is the condition clinically relevant. So, these labs don’t… they’re not checking if your baby is going to be a lefty or righty. Right? Or have blond hair or brown hair. They’re testing important conditions.
And so it’s not… Yeah, it’s not irresponsible to do a shotgun test on somebody testing them for everything because this is real information. Now, it may not end up being relevant for them, but it’s not bad to get that information. Whereas in other tests sometimes it is like, “Why don’t we do full-body CAT scans on every single person in the world?” It’s not just because…
Estie: That sounds terrifying to me.
Dr. Fox: Right. So, I mean, it’s not just because we don’t have the resources, it’s because you’re going to find a lot of things that are going to lead to further testing and biopsies and surgery and you may hurt more people than you help. That’s not the case with this genetic testing, you’re not going to just start doing additional tests. Just find out if their partner carries it and that’s it. And if they don’t, it doesn’t matter. If they do, it does matter.
And so that’s an important concept, also, that it’s not over-testing like it would be potentially in other disciplines. And I think our listeners really need to know that.
Estie: Yeah. And I’d like to add that, you know, most people that we test are going to be positive, most people are carriers for things. We’re testing for so many conditions and they’re all somewhat common. You know, that’s why we’re testing for them, is that they’re common enough. So, most people that we test come back as a carrier for one, two, three things. Like, that’s a totally normal and typical result. And again, most of the time it doesn’t really make a difference. Like you said, it doesn’t matter as long as their partner is not a carrier, as well.
So, yes, most people that we test are carriers, but finding a carrier couple where both the man and the woman carrier the same condition, that doesn’t really happen that often. Right? So, most of the time it’s overall good news. But when it’s not, you know, “good news,” we talk to them about it and we get them through it and we counsel them about what they can do with this information and we empower them with the information and help them make really good decisions, you know, for themselves and for their family.
So, yes, most people are positive, which is totally normal and totally typical. But like you said, it usually doesn’t really mean anything. And when it does mean something, we’re there to deal with it.
Dr. Fox: Got it. So, tell us how does it work with JScreen. How would someone test with you, number one? And number two, what kind of testing do you even offer?
Estie: So, JScreen currently offers two tests, we have a ReproGEN test and a CancerGEN test.
Our ReproGEN test does reproductive carrier screening, so what we’ve been talking about until now where people get tested for over 200 conditions to see whether or not they carry them. Again, in most cases, people who are carriers have no idea before they get tested that they’re a carrier because they don’t have symptoms of the conditions that they carry. But we just want to be careful and make sure that we’re not finding carrier couples. So, that’s the ReproGEN test.
The CancerGEN test is totally, totally separate from that and people who do that are tested for over 60 different cancer-predisposition genes. If somebody tests positive for any of those genes, that means that they themself, so not necessarily their kids only but they themselves, have a higher-than-normal chance to develop certain cancer, depending on which gene it is.
So, the ReproGEN test is really used for reproductive reasons for when you’re planning to have a child and the CancerGEN test is used for more personal health reasons. Both of these tests are done at home.
So, the process is for both of these tests that you go onto our website jscreen.org, you choose the test that you want to do. Some people will decide to do both tests, some people only want to do one. But you choose whichever test is the one that makes the most sense for you at this point in your life. You register for the test, you give us some information, give us your payment information, your doctor’s information.
By the way, the reason we need your doctor is because test orders for genetics have to always be put in by a doctor. You cannot order your own genetic testing, your doctor needs to do it for you. So, they’re involved in the process the whole way.
After you register for your test, a genetic counselor will review your case just to make sure that this test is appropriate for you at this point in your life. You know, we want to just make sure that people understand the test that they’re getting themselves into. So, if it’s something that we are concerned about that this might not be the right test for them, we will reach out to them and just make sure that this is really what they want to do.
After that, send in a saliva kit in the mail, they spit into the tube. So, this is something that you can do from home, it’s not something that you have to go to the doctor to do, there’s no blood draw. Everything is done at home through saliva. You send it back to the lab.
And then, when the results are ready, our genetic counselors will review the results and we will tell you the results either over the phone or by Zoom, whichever one you prefer. And then, after we speak, we will send your results to the doctor. So, the doctor and the genetic counselor is kind of, you know, there the whole time, so everybody is doing this in a very, you know, medically responsible way. So, you always have somebody supervising your case from the beginning to the end. And if there is any follow-up that’s needed, the genetic counselor will refer you out to the appropriate specialist in your area.
Dr. Fox: And just to be clear, JScreen is a non-for-profit organization. I mean, there is a cost, but that’s just to cover your cost to do these things.
Estie: Exactly. So, the cost covers the cost of the testing and the genetic counseling. It is a very heavily subsidized price, but it does have to cover some of this clinical work, yeah.
Dr. Fox: Understood. And now how do you deal with this concept of pre-test counseling? So, you said that people sign up and you look at it, but usually in the world of genetics you want to have a conversation before the test is sent. Is that something that happens or you do it in select cases?
Estie: Things have changed a lot. Like, you mentioned before, we see genetic counselors in almost every area of medicine nowadays, which it used to not be like that. So, because of that, we’re having, you know, a little bit of an overload of patients. Right? Because we…there’s just too many things going on and too many different tests that can be done. So, things are shifting a little bit.
It used to be that any time somebody did any kind of genetic test, they would meet with a genetic counselor first, we’d take a full family history, we’d learn everything we need to know about them, and then they’d have another session when the results are ready. But it’s kind of…we’re kind of steering aware from that and we’re kind of now going into the realm of more standardized pre-test education, and then personalized post-test, you know, results.
So, people get, especially at JScreen, we generally don’t meet with them before. They watch an educational video. Everybody watches the same video, whether it’s for the ReproGEN test or the CancerGEN test. An animated video basically telling them what the test is, what the risks are to doing the test, what the benefits are, basically, like, what you’re getting yourself into with this test. Everybody watches the same thing. If they have any questions, they can definitely reach out to us. If we have a question about anything that they told us in their registration, we will reach out to them. But generally, most people get the exact same pre-test education by that video. But then, when the results come in, we have a genetic counselor review the results kind of in the context of their personal history, or their family history. So, it’s much more tailored to the person. And then we give, you know, more time at the end once we have what to talk about. Right? Once we have the results sitting in front of us.
So, the genetics world is kind of moving away from that model where we spend a lot of time before and after the testing, and now we’re moving towards that wait until you get the results, and then we’ll discuss it then.
Dr. Fox: And also, just a few things just to clarify. Even though it’s called JScreen, the test is not only for Jewish folks. Anyone can sign up, you don’t have to prove you’re…you know, you don’t have to show a circumcision before you get tested or anything like that. You know, you’re good to go, anyone, right?
Estie: Yes. Anybody who’s interested in either test can get tested as long as they meet some of our criteria. So, for example, for the ReproGEN test, we’re only testing people between the ages of 18 and 45. There are going to be some, you know, exceptions to that rule, but generally the purpose of this test is for reproductive reasons. So, we’re only testing people in the reproductive years.
For the cancer test, we will allow anybody over the age of 21 to get the test. But if we see anybody register between 21 and 25 years old, we’ll always reach out to them just to, like, again, like I said before, just make sure that this is the test that they’re looking for. Because finding out that you’re positive at a pretty young age can be, you know, quite a burden on somebody.
So, we just want to make sure that they’re ready to receive this information before they get the test done. So, that’s an example of somebody that, you know, we see their case come in, they’re 22 years old, so we’re going to give them a call and say, “Hey, slow down. Let me tell you a little bit about this test and what it’s going to tell you. Are you still sure that you want to get this information?” And very often, I’ll tell you, a lot of people end up canceling because they didn’t realize, necessarily, what the CancerGEN test was. They saw it on the website and said, “Oh, that’s interesting,” and they click on it, you know. But when they hear from a genetic counselor what it really is and what kind of information they can learn about themselves, sometimes it’s…you know, they’ll put the brakes on it and they’ll say, “Maybe I’m not ready for this just yet.”
Dr. Fox: Got it. And can you explain a little more what is the interaction between the patient, you guys, and their doctor? Let’s say this was not doctor-initiated, right? If the physician says, “All right, I want you to get testing, sign up for JScreen. I’ll go over the results with your,” okay, that’s pretty straightforward. But what if someone just initiates it and just puts a doctor’s name down? Is the doctor going to be like, “Whoa,” like, “What’s going on here?,” or is there some sort of conversation? How does that work?
Estie: So, most people actually do order the test by themselves. Like, they go on the website themselves and they want to do the test. It’s usually not the doctor ordering it for them or telling them to order it.
So, what happens is when you register, you tell us your doctor’s name and phone number, and then we fax them an order form. And on top of the order form is a cover letter explaining what JScreen does. So, for many, many physicians this is the first time they’re ever hearing about JScreen, is when they get this fax. And they read the information about it and they need to sign a form saying, “Okay, you know, like, I do want you to do this for my patient.”
So, again, most of our doctors have never heard of us because their patients are the ones bringing us into their practice. And then, when the results come in, we’re going to discuss them with the patient first, and then we’ll send them to the doctor, as well. Most of the time we just end up faxing the results to the doctor and not touching base with them, you know, like on the phone or in person. But when there’s a positive result or something, you know, a little bit more concerning where we really feel like we need to talk to their personal doctor who speaks to them more often than we do, we’ll give them a call and we’ll come up with a plan. We’ll make sure that the doctor understands what the results mean. A lot of OBGYNs don’t have much training in genetics, we find, so we’re kind of there to educate the doctors and to let them know what we found and what kind of implications it can have and, you know, give recommendations for next steps for the patient.
So, we’re kind of, like, that liaison between their genetics results and their doctor, and then we kind of leave the results with the doctor and say, “Okay. So, now you know what this means. You take care of the patient.” Because, you know, we are a national program and we’re seeing patients all around the country and we have to make sure that their doctor kind of knows what’s going on so that they can refer them to the appropriate specialist if needed in their area. Like, we don’t know every single specialist in every single area of medicine in the United States, so we kind of have to leave the information with the doctor and, you know, make sure they understand it, and then they take it from there.
Dr. Fox: Right. It would seem to me that the reproductive side is a little more, I don’t mean from a genetics standpoint, but from a logistical standpoint, straightforward. Because I think most OBGYNs are comfortable with the concept of carrier screening and it’s relatively straightforward. Again, there are situations where you get results that are really way out there, but those are the exceptions. Typically, you know, you’re found either, you know, a carrier, not carrier. And if they are a carrier, okay, we’ll check the partner. And if they’re both carriers, just refer them for, you know, genetic counseling and possibly invasive testing, or IVF if they’re not pregnant yet. Okay, that’s, like, sort of in a box.
I would think the cancer genetics would be a lot more complex in terms of what exactly is their history, what exactly is their risk factors, who do they follow up with, when, why, where, all those things. So, that probably gets a little bit more individualized based on their circumstances and which doctor is getting the results and who they refer to.
Estie: I would say you’re totally right, especially since the cancer genetics world is still pretty new, relatively speaking. So, a lot of oncologists, you know, they know the big cancer genes that everybody knows, like the BRCA gene, you know, the ones that everybody knows, but I did say we’re testing for over 60 genes. And a lot of these genes are even new to us as geneticists, you know. So, a lot of the oncologists never heard of these genes and we’re there to explain to them what they mean, and then what kind of implications they could have on the patient.
Like, I would say since we started this cancer test, I myself have learned so much in such a short amount of time because I’ve never heard of some of these genes. And I have to teach it to myself before I even speak to the patient about it because these are, you know, newer genes… Not that they’re new genes, they’ve always been around. But information about these genes is still coming out and we’re constantly learning new things about them.
So, keeping the doctor abreast of the situation and letting them know the information that we know is really important in most of those cases so that they know what to do with their patients and how to manage them and send them for appropriate care.
Dr. Fox: Right. And who does your sort of behind-the-scenes work? Right? JScreen isn’t…like, you don’t have a JScreen lab, right? You don’t have JScreen people running the tests. Who do you work with?
Estie: Each of our tests are done by a different lab. So, our ReproGEN test is done by Myriad laboratories, which is a very large lab based in Utah, in Salt Lake City. They do a lot of carrier screening for a lot of OBGYN practices. And then our CancerGEN test is done by a different lab called Invitae, which is also a huge clinical lab that provides all different types of genetic testing. But we chose them specifically for our cancer test because we felt like they had the best platform for this kind of testing.
Dr. Fox: The other thing that I want to focus on, and I’m sure you want to explain to our listeners, is how does JScreen differ from other at-home, maybe commercial where people pay, genetic products. Right? We’re not here to promote or to knock down any of them. But just for context, again, so our listeners… Like, things like 23andME, for example. You know, how do you differ from a test like that or a company like that? Again, we’re not saying it to be positive or negative, just so everyone understands what the deal is.
Estie: I think it’s a really good question because a lot of people ask us that question. They say, “How are you different? Why can’t I just go to Target and get a kit there for 23andMe and get the same test done?” There are a couple of differences between what we do and what they do.
So, you’ve already seen from our conversation that we do everything in a very medically responsible way. So, we include the doctor, we have genetic counselors throughout the process making sure that the right test is being done. If somebody goes through 23andMe, they’re not getting any of that. They’re sending their sample into a lab and they’re getting the results in their e-mail and that’s it, they’re not speaking to somebody about what their results mean. So, that’s one difference between us and 23andMe.
Another difference is that, as I mentioned before, we’re using two clinical labs that are well-known and, you know, certified to do this kind of testing. And 23andMe is not using a lab like that. So, our test is certified and we’re using technology that is known to be excellent, our detection rates are over 99% for most of the genes that we test for between both of our tests. The technology that they use at 23andMe is not as comprehensive and accurate as that. So, you’re getting a more limited test when you’re going through 23andMe.
So, number one, you’re getting more medical oversight when you’re coming through JScreen. And number two, you’re getting a better test when you go through JScreen.
Another difference between 23andMe and what we do at JScreen is that 23andMe, they actually have, like, a couple of different versions of their test, or different parts that they report. So, they do carrier screening, like we do, for example. They also even do a small version of a BRCA test. But that’s only one little part of their test. So, in addition to doing that medical testing, they also do what I like to call recreational genetic testing. So, they’ll let you know what your ancestry breakdown is, they’ll let you know some, you know, interesting things about your genes, like do you…does your hair roll to the right or does it go to the left, or do you like cilantro or do you not like cilantro, or do you flush when you drink alcohol. Like, things like that. Like, things that are more fun kind of information, but not medical-grade information.
So, we are very strict in what we test for, we do not do any of that recreational genetics, we only do clinical genetics. So, we’re, I guess, less fun in that way. But at the same time, what we do is more, you know, based in that medical institution. JScreen is based out of Emory University in Atlanta, so we have their medical geneticists kind of backing us up. So, in case we ever have, you know, a complicated case or anything, we always have our medical director to speak to and to, you know, ask. We kind of have the backing of Emory behind us.
Dr. Fox: “Come to JScreen. We’re less fun.” Yeah, no, I think it’s…I think that’s a really important distinction. Because… You know, and there’s nothing wrong with the 23andMe, you know, type of testing if you understand the context of it. I think that if people take it and think they’re getting medical-grade genetic testing, they’re not. Right? This is not sort of how we do it in medicine for, A, the reasons you said in terms of counseling. Because people really need to understand the context, what are they doing, why are they doing it, what do the results mean, how do you deal with this. Number two, what is the level and accuracy of information I’m getting on the medical side.
And so that’s one aspect. But it’s almost, you know, like, “Oh, that’s cute.” You know, “What percentage am I actually European versus this?” Where it’s like, “Whatever.” Like, it might be fun to know and you pay for it and get the results and that’s separate, but that’s not really medical. Like you said, I don’t…like, it doesn’t really have a clinical significance if I like or dislike cilantro. Like, who cares? But, you know, it’s cute.
And so I think people need to understand that when you’re going through one of those companies like 23andMe, you’re getting information, it is genetic and it might be fun to read and fun to compare to friends and this or that. And, like, okay, it’s novelty. But you’re not getting the type of genetic testing that we would recommend in our office, or you’re doing at JScreen. And that’s a really, really important distinction that they’re not the same. And you have to know which one you want and test the one that you want. If you want something recreational, go to 23andMe. If you want to actually get information that’s clinical, get it ordered in your doctor’s office, go to JScreen, whatever it is. Because you’re getting different information for different purposes.
Estie: Yeah. I couldn’t agree more.
Dr. Fox: I just want to say one more question. Why would someone choose JScreen or why would JScreen exist in the world where people can get this testing in their doctor’s office? Meaning in my office, people walk in all the time and we order the same tests. We have cancer genetics, we have reproductive genetics. Are you there because there are places where it’s unavailable or are you there because some people just, I don’t know, don’t know about this or are you catering to anybody who’s not being captured, let’s say, by the medical world?
Estie: Yeah, I think that’s a big part of what we do. So, when JScreen started in 2013 in the Atlanta area, it started out just there, but now we’re a national program. But when it did start out in Atlanta, the people who were there, I was not yet there, they did a market research study where they were just looking to see, like, what percentage of people in the area who were Jewish and of reproductive age knew about carrier screening or did carrier screening. And the numbers that they got were alarmingly low. You know, they saw that such a low percentage of people actually knew that carrier screening was, like, a thing that they needed to do, and an even smaller percentage actually did it.
So, they were trying to figure out, like, “What is wrong here?,” like, “Why isn’t it being done when it should be done?” And they saw that there were a couple of barriers that were stopping people from getting tested.
So, one of the barriers was just knowledge, or information, right? People just didn’t know it was a thing that they had to do, that they were at increased risk for these conditions.
And another thing was accessibility and affordability. So, you had mentioned before that the testing used to be extremely, extremely expensive. You would test, you know, people for one gene at a time for $800 for one gene, and that was prohibitive to a lot of people. And the accessibility was also a really big deal. You know, people didn’t like the idea of going to their doctor’s offices, having to get their blood drawn, especially the men. Men, I don’t know why, for some reason they don’t like getting their blood drawn.
Dr. Fox: We’re wimps. That’s why. I’ll tell you that right off the bat, we’re wimps. I speak for the entire 50% of earth when I say, yes, we are not cool with that, we’re wimps.
Estie: Oh, gosh. That’s why the women have the babies. But, anyway.
Dr. Fox: Yeah.
Estie: Aside from that, it was getting the blood drawn, it was taking a day off of work or a day off of school to get it done. And, you know, these things all added up and people were just not getting the test.
So, JScreen kind of was the solution to all of those problems. Because they started this at-home test. Right? So, it was accessible and convenient and easy to do, you didn’t have to take a day off of work. It was saliva-based, so we didn’t have to worry about, you know, people tapping out or, you know, getting scared of getting their blood drawn. It was affordable, right? We have philanthropists who help us out and they help us subsidize the test. And we provide this education, right? We do podcasts and we go around to different communities and we write in school newspapers and go out on campuses. And, you know, we kind of tried to answer all of those problems and I think that JScreen was the perfect solution to it.
That being said, there are certain areas of the country that don’t need it as much as other areas. So, you know, where you’re located in New Jersey, where there’s a lot of medical centers and you have a lot of access to genetic testing and a lot of access to genetic counselors, it’s really not as necessary as it is in other areas of the country where doctors don’t even ask what your ethnic background is, or they do the bare minimum when it comes to carrier screening, right? They’ll test for just the three diseases that the American College of Obstetricians and Gynecologists recommends. So, people just don’t get the right test in certain places of the country and they can’t necessarily always afford it.
So, I would say that in other areas where there’s less access to genetic testing, we are the perfect solution. But in areas where there is a lot more availability for genetic testing and genetic counselors, you’re going to see that we’re, I guess, less necessary. But even though we’re less necessary, our numbers are still really, really high in those places because people in those areas tend to be a little bit more educated about their risk because there is more of a Jewish population, you know, in the New York-New Jersey area where you are and people tend to be pretty knowledgeable about their risks.
So, they’re going to come to us because we’re easy, we’re also very well-known in the Jewish community. We’ve been around for, you know, many, many years, so people know our name and they know that we’re there for the community. So, people like to use us because of that. They’ve seen us on their college campuses, they’ve seen us in their local newspaper, and their brothers and sisters and cousins have used us before. So, even for people who don’t need the access as much, we still see that, you know, they’re coming to us because they recognize our name and they trust us.
Dr. Fox: Estie, thank you so much for coming on the podcast. Really great explanation both of sort of genetic screening in general and what you as a genetic counselor do, but also JScreen and what your organization does and how you’re helping to, you know, expand testing to more people who might not have access to it or might not have knowledge about it, which is really important stuff. Because, as we said, this is not just for people of a Jewish identity, it’s really for everyone. And that’s an important concept for people to learn and to know about. And so thank you so much for educating all of us, I really appreciate it.
Estie: Yeah, thank you for having me. If anybody wants to reach out to me or has any questions about what we do or, you know, a test that might be right for them, they can definitely feel free to…I’ll give you my information, you can put it in the show notes, I’m happy to speak to anybody.
Dr. Fox: Right. And you guys, as you said, your website is pretty straightforward. Jscreen.org?
Dr. Fox: Beautiful. All right. Estie, thank you so much.
Estie: Yeah, thank you for having me.
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