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Demystifying Genetics
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au
Sponsored by TrakGene
www.trakgene.com
Demystifying Genetics
What Happens When You Become Your Own Boss in Genetic Counseling? Demystifying Genetics with Scott Weissman.
Scott Weissman shares his journey of building a telehealth genetic counseling private practice, discussing the challenges of insurance contracts, licensing across states, and adapting to technological changes in cancer genetics.
• Opened private practice in 2016 as a side business, now seeing 15-20 patients weekly
• Despite having licenses in 25-26 states, establishing insurance contracts remains a major obstacle
• Pivoted to 100% telehealth during the pandemic, offering after-hours and weekend appointments
• Medicare recognition would be a game-changer for private practice genetic counselors in the US
• Excited about emerging technologies like long-range sequencing that could "fill in the gaps" for what we've been missing
• Works with the Norton and Elaine Sarnoff Center for Jewish Genetics providing education and carrier screening
• Carrier screening has evolved from testing for 6 conditions to 267 conditions over two decades
• Once gave Dr. Henry Lynch (namesake of Lynch syndrome) a "very small manicure" by cutting off his hangnail
Demystifying Genetics is sponsored by TrakGene
https://www.trakgene.com/
Hello, this is the Demystifying Genetics podcast and I am your host, Dr Matt Burgess. I am a genetic counsellor in Melbourne, Australia, and in this podcast I speak to genetics professionals and others from around the world on all things genetics. Today, my guest is Scott Wiseman. Scott is a genetic counsellor with over 20 years experience. He is based in Chicago, Illinois, and a big thank you to Drap Gene, our sponsor. Hello, Scott, and welcome to Demystifying Genetics.
Scott Weissman:Hey, Matt, it's good to see you. It's been a long time and I appreciate the invite to spend some time with you.
Matt Burgess:Yeah, it has been a while. How are you going?
Scott Weissman:I'm going well. A lot has changed work-wise over the past few years since we saw each other, but things are good. How about for you? You're obviously back in Australia.
Matt Burgess:I'm back in Australia. Things are changing, but no going really well. First things first. I know when we were sort of setting up a time to meet, we were joking about having cocktails and I saw that you just had a sip from a big cup. Do you have a cocktail in that cup?
Scott Weissman:I wish I did so. My son came home from college and brought something with him that has now infected me, so this is more tea than actual cocktails. So no, I am. I am breaking the promise, not 100 percent.
Matt Burgess:Oh, that's funny, because I'm having a nice cup of tea as well.
Scott Weissman:Perfect.
Matt Burgess:Excellent. Oh my God, I've got so many things to ask you but, um, when I think of you, I think of private practice, and you sort of have quite a successful um private practice in America. Just wondering if you can share some information about that. To start with, yeah, uh.
Scott Weissman:So I, you know, I opened this private practice in 2016. And it was really for many years kind of a side business. I always had a full-time job, and the reason that I started it is that back in 2016, I was working for a genetic testing laboratory on the customer service side of things, and I would get telephone calls from non-genetics providers that were ordering testing and who would really be pretty honest and say well, look, I'm doing this because you know, I've referred my patients to the you know, the academic center and they don't come back, or I've referred my patients and they can't be seen for three or four months, or there's nobody near me. I just don't have anybody to refer to. So they were always looking for help. So it really seemed like an opportunity to try and kind of develop something where there would be greater access to genetics healthcare professionals outside of the typical hospital setting. There had been several genetic counselors, I think, that had done private practices before me. I'm not like the first person to do this and so in the state of Illinois, which is where I live, we have licensure and our licensure law allows us to order genetic testing. So, kind of on a whim, I said why can't I do this Like? So I basically decided to open this, this private practice.
Scott Weissman:In this private practice I had had a job as a program manager at a local hospital where you know I had dealt with budgets and revenue and program schematics and billing and payer mix, so, like I had enough knowledge to kind of know a little bit about the business side of genetics as well as working for the laboratory where I felt like I could, you know, I could do something like this, probably a little bit more naively that, depending upon where your listeners are located, um, what I wasn't able to do is establish in network contracts with insurance companies, and I still haven't been able to actually do that eight years later.
Scott Weissman:Uh, but that's what kind of led me to opening this. And then about a year ago, I decided to make this my full-time gig. A year ago I decided to make this my full-time gig and uh, yeah, and, and um, I, you know I built it from kind of like three or four patients a week to like 15, sometimes 20 patients a week. Uh, and it's been, it's been exciting. I love being my own boss. Uh, I love answering to no one, uh, so it's, it's been, it's been nice, it's been quite an adventure and one that I'm glad I kind of stuck with over the years.
Matt Burgess:And so you said that you're based in Illinois With licensing and licensure and that sort of thing. Are you only able to see patients that live in Illinois as well, or can you see patients outside of state, or how does that work?
Scott Weissman:Yeah, that's a great question. I don't know the exact number, but I think somewhere over 30 states right now require licensure in the US and my last role before doing this private practice on my own was for a telemedicine company. So I have licenses in like 25, 26 states, so I am able to see patients in multiple states around the country. Where there are limitations are some states I cannot order genetic testing, others I can. So, depending upon where somebody lives, I can service them to a point and get them to talk to their primary care physician about ordering the testing, or I can walk them through the whole process.
Matt Burgess:Yeah, and what do you think about starting a private practice, like, do you feel like I kind of feel like you need to kind of do your time in a big hospital and sort of learn genetic counselling, whereas I see that there are some new genetic counsellors that are coming out that are wanting to go straight into private practice or straight into the private sector? Did you have sort of any sort of thoughts on that?
Scott Weissman:I mean, I think for individuals that kind of come straight from school into private practice, it could be a little bit more challenging unless you know they are getting a lot of the business side in their training.
Scott Weissman:You know I graduated in 2002 and there was zero business, like zero business training at all and a lot of this I just kind of figured out on the job. So if these individuals really aren't getting that business side of what we do, I think it could be hard. Really aren't getting that business side of what we do? I think it could be hard. I also think that you know newer grads are still kind of maturing in their skill set, right, they're still kind of fine tuning certain aspects of the role where that could be again a little bit more challenging. But if they have, you know, good support from another genetic counselor that they can bounce things off of. If they're going to be working with a provider like in the state of Washington, for example, you need a collaborative agreement with a physician in order to get a license and practice you know there are ways that you could potentially do it with support.
Matt Burgess:I do think, though, it probably is a little bit more challenging. It's interesting I'm teaching in a genetic counselling subject at the moment and it's great because my students are so conscientious and they really want to do really well and it's the first subject in their master's program. So I keep saying to them I'm not expecting perfection, I just want you to sort of practice putting it together and then over time, you know, you practice and you get better, and you get better and you get better. And it kind of sounds like sort of that's what you're saying with you know people coming straight out and whether they're able to go straight into business or not.
Scott Weissman:Yeah, absolutely. And I just think, in terms of the variety of cases that you see in training, there's still probably a lot of experiences, a lot of conditions that you haven't come in contact with yet that you know. If you get on your own and you haven't seen it before like, yeah, like you could do all the research, you could figure everything out and be able to handle it. But sometimes there's additional help. I mean, again, I've been doing this 20 years.
Scott Weissman:I've been doing adult genetics for the full 20 years, and so I started getting referrals from an IVF clinic where, you know, I had to phone a friend not you know quite often for these cases because it's like, hey, I just want to make sure I'm thinking about this, right, I've never done this before. Is you know, x, y and Z the right plan? And so I have friends that kind of help me out in those situations where I just know like, okay, I need help, and not afraid to ask for the help when it comes up. So if somebody has that kind of you know, understanding of their limitations and can, you know again, phone a friend, I don't think there's a reason they couldn't be successful.
Matt Burgess:Yeah, that's funny, like I feel. Like you know I did genetic counseling at UD maybe a year or two after you, so I've been around for about the same amount of time and you know I work predominantly in prenatal at the moment. But I had a case where it was like my first ever referral for Friedrich's ataxia and it's not such a rare condition in genetics. You know most genetic counsellors would know about it and I kind of thought, okay, well, it's recessive and I know what that means, but I just kind of I needed to phone a friend.
Matt Burgess:I just was like am I thinking about this the right way, you know? Like on one hand it wasn't, it was a pretty straightforward case, it wasn't sort of complicated. But it's just when you're doing something for the first time it's like am I thinking about this the right way, you know? Is there anything that I'm missing? Or you know and you know it was just funny like when you sort of work by yourself, it's good just to like. I think normally those conversations will just happen over the table or, you know, in the office. But maybe that's something that you miss when you're sort of working in isolation.
Scott Weissman:Correct or it's going to get. It's going to get scheduled with that genetic counselor that has the experience in that area, and maybe it's not going to get scheduled with you to your point, and so I think that's. That's one of the fun things about private practice is I think it does open up the opportunity to potentially see a lot of things that you maybe wouldn't see in a cardio job, a cancer job. If you're just kind of pigeonholed into one area, you're going to get really good in that one area but maybe lack in others, and so this is a way that really you can kind of see a broad range of stuff, which, again, I think is is more fun and can be challenging, but it's um, it's something new every day, which is great.
Matt Burgess:Oh good, and it's funny, like, as you said, uh, we didn't have any training in business in our courses, um, but obviously, opening a private practice it's your own business and there's lots of skills that you need to sort of draw upon. And you sort of said that, maybe naively, you started a private practice. I know, sort of outside of the genetics world, a lot of people when they're talking about setting up their own business, like a lot of the advice or the common theme is just to go for it. Like you know, it's better to sort of start and make mistakes and learn from your mistakes than to try and get it perfect. Do you feel like you sort of started your business at a good time? Or, you know, were you trying to wait until you sort of had everything lined up?
Scott Weissman:Yeah, I definitely did have everything lined up. I was just kind of piecemealing it, a bunch of it together when when I started. But I also had about 14 years of experience at that point in time. So I had done a lot and knew kind of the things that I needed needed to do to to get it going. Yeah, again, I think. Um, actually sorry, ask the question one more time, sorry.
Matt Burgess:Um, I guess what I was thinking about is from a business point of view, sometimes like I feel for myself, like if I was starting a business. I want to have it all sort of um, sorted out and organized. But I'll look at the advice is just jump straight in.
Scott Weissman:Yeah, so thank you. So I think, jumping, well, you need to have it somewhat figured out right, Because there's a real world consequence where if you make a mistake, if you screw up, if you give the wrong advice, somebody can come and sue you for malpractice, right, Like. So this isn't like you're selling cookies and you know something bad doesn't work out People don't like your cookies and you close shop. There's potential for real harm. So, understanding, having that comfort level to make sure that you have kind of all of your insurance in place your liability insurance, your malpractice insurance, making sure that you have an EHR in place, making sure that you have HIPAA protections on your email, your phone system, your Texas, and like all the things that you have HIPAA protections on your email, your phone system, your Texas, and like all the things that you really need to have in this kind of business.
Scott Weissman:So you just I don't think this is something that you can really just kind of go for it Like you really, I think, need a lot of research in terms of what do I need to set up a in some sense like a, a health clinic, right? Like we are providing healthcare to some extent, we're not physicians. There's our scope of practice, of what we can and can't do, but it is still healthcare that we're providing and I still believe we need to follow all of those typical rules you know, making sure that you're doing your HIPAA training once a year, that you're documenting that you're doing your HIPAA training, you know that you know what kind of updates have happened with it, Like all these things I think need to be figured out before you just jump right in. So a lot of this I had up front and that had been slowly kind of building on it as the way that we practice change.
Scott Weissman:When I first started doing this, we weren't really texting with patients typically, and now that's something that I think most people are expecting you to. Well, depending on your patient population, they're expecting some sort of text, communication and understanding that you have that set up correctly and you have it on your website correctly so that things are. You know you're asking all the right questions for opting in and opting out. So, again, without I think, understanding this experience, you could potentially stumble a little bit and just hopefully it's not something that you know.
Matt Burgess:You're st stumbling in small things, not major things that can, like, put your license at risk, or you know something more significant yeah, so you said with the sort of the the legal side of things, in illinois you're able to order genetic tests, but it's sort of more of an issue with reimbursement. Um, I know that that is sort of like a complicated thing in the United States and it's really state-based. So obviously people can come and see you and just pay for a test outright and I'm guessing a number of your patients would have private health insurance or health insurance through their employer. Does the new CPpt codes in america and that sort of side of things. Is that helping, um, businesses like yours maybe being able to be reimbursed by health insurance? So I.
Scott Weissman:The new code I do not believe helps genetic counselors in private practice who do not have contracts with insurers. I don't think the new code is an incentive for insurers to establish in-network contracts with genetic counselors. I think the biggest problem that I am getting because I've hired credentialing specialists like I tried doing this on my own. It wasn't successful. Then I hired a company to do it. They had experience with this, wasn't successful. Then I found somebody that had tried it specifically for genetic counselors and still haven't been successful.
Scott Weissman:And the issue that I'm kind of hearing is well, we don't know what to do with you because there aren't a lot of genetic counselors that are doing this. You don't have 50 state licensure. We don't want to figure it out state by state. So get back to us when you have 50 state licensure or you know we get the whole issue with Medicare being recognized by Medicare. If you get recognized at Medicare and you can bill Medicare, come back to us. So I really think the biggest thing for our profession if we want more genetic counselors in private practice as a viable alternative pathway for a career is getting that bill passed in the States where we can be recognized by Medicare and can bill Medicare for our services in the States where we can be recognized by Medicare and can bill Medicare for our services, and then I think the dominoes will hopefully start to come down and the commercial insurance, the private insurance, will then start potentially accepting those of us that are doing this. You know, on our own.
Matt Burgess:I guess when you guys in America, you know, back when you were setting up state licensure, you know I feel like things have evolved so much you probably didn't think at the time about how complicated it was going to be and it kind of sort of made sense oh yes, let's just do it on a state-by-state basis. And then all of a sudden you know you have like a global pandemic and everything's telehealth, and you know if you're seeing patients outside the state you need to be licensed in each state yeah, absolutely well.
Scott Weissman:Actually during the pandemic they got rid a lot of that of the like you don't need to be licensed in the states. They were just allowing people to see patients regardless of the license, because they just needed people to be able to, you know, service uh, patients. You know, during that time period, given how people were trying to kind of quickly pivot to be able to do this, so there were a lot of restrictions that just kind of went out the window that have now kind of all been put back into place. But yeah, it's an issue, it's definitely an issue.
Matt Burgess:So talk to me about telehealth. Is that a big component of your private practice now?
Scott Weissman:When I started the practice, I had a brick and mortar office space that I loved. I would get out of the house because I had been working from home since 2013 in different jobs. All the jobs that I've had for about the past 10 years have been remote jobs. So I found office space because, again, that's what people were accustomed to and when the pandemic hits and again obviously there was no sign in terms of when is this going to end and everybody was starting to have these experiences with telemedicine and everybody and all the healthcare systems were pivoting to it I basically gave up my office space and do completely telemedicine now and I really think people really appreciate it, because I think one of the selling points if you will, when people call and I tell them I don't take insurance is well, I can see you after hours and I can see you on a Saturday and I can be flexible to your schedule because, one, you don't need to go anywhere and, two, you know I'm happy to make it work on a timetable that works for you, so you don't have to miss work If you got to pick your kids up for school, whatever it is, and I think people think about that differently and go. Oh, that's actually a nice little benefit here. I'm willing to pay out of pocket to do the consultation because you're going to meet me where I need to be met. So I think it is a lot of people like it.
Scott Weissman:And with the way that the laboratories work in the States and all the software and everything like, again, you can really do everything that you need to do remotely, especially with the laboratories offering like home phlebotomies, like that really makes a big difference, especially if you want to do, you know, for cancer you want to do DNA and RNA based testing. You know you, you can still get it done. Even I work with. I work with a retinal specialist who refers a lot of 60 plus individuals who again love the idea of telemedicine. They don't have to, you know, they have difficulty with vision, they don't have to go to the doctor. So it really it is beneficial to a lot of people, especially people that have genetic issues or have concerns about genetic issues.
Matt Burgess:Yeah, and so was it. Do you think it was like a slow evolution, or was it the fact that there was the global pandemic and then we all sort of felt more comfortable being in telehealth, or do you kind of see like a trend or a pattern there?
Scott Weissman:Yeah, I think it was the pandemic a hundred percent. I was offering telemedicine when I had my office space and people said no, I want to come and see you, I want to meet you in person and I'm happy to drive Great. Now, when I tell people it's telemedicine, nobody says well, can I, can I come and see you? They don't even ask. So I really think the pandemic made made the big difference here and people are just this is now it's part of life and this is the way people get get healthcare.
Matt Burgess:Yeah, yeah, it's funny, even just from like a, um, a recording, a podcast point of view before. Uh, covid, like I used to go into the studio and you know like it was complicated and like the microphone set up and then, um, my sound engineer afterwards was like, oh no, we just recorded on zoom, like that's fine, so it's just funny.
Scott Weissman:You get a fancy microphone that you know, really you know gets all the pops and everything and you're good to go. It's amazing.
Matt Burgess:So I guess when I think of you in genetics, I think of cancer genetics and I think that you sort of predominantly are in the cancer space. How has cancer genetic counselling changed for you over the last couple of decades?
Scott Weissman:How has it changed? Let's see. So I think the first is having those discussions about like DNA versus RNA testing, certainly panel size, even though most people will ultimately say, well, you know, tell me what you think I need and I'm good with it, and you know the VUS rates, I think starting to go really go down has been kind of big, big changes over the years. I'm really kind of looking forward to like long, long read sequencing and optical genome mapping to potentially identify families that we know that there's something going on and we've tested everybody and you know we don't find anything. I'm just wondering how much you know methylation is going to show up in, you know, these inversions and other things that we just haven't been able to detect all these years. So I've seen some small changes but I'm really excited for, I think, what's coming up and how that's going to impact what we're doing and how we're doing it.
Matt Burgess:Yeah, I feel like as a lay person, you kind of think okay, I'm having a genetic test, I give a sample, my genetic counsellor is going to organise the test, and it's sort of like a binary thing, like you find something or you don't find something. And if you find something, maybe it's disease causing or maybe it's not. But you know, it kind of is a bit more complicated than that. You know it kind of is a bit more complicated than that and like, even like, as you say, you know, traditionally we just did testing on DNA, but now we're able to test RNA and even sort of just explaining to patients okay, well, there's like a different genetic mechanism and doing a different type of genetic test can sort of help. Have you got a lot of experience in sort of testing RNA and sort of adding that into the mix?
Scott Weissman:Yeah, and honestly I still do it, but I can't say that I've gotten a result that has been influenced by RNA in any way, shape or form. And I know the data is kind of mixed. But you know the couple of laboratories that are offering it. I think they have difference of opinions of how valuable it is. Again, I don't know how much of that is just marketing and market share for tests, but you know, I think if there is a new technology that can yield anything that adds additional detection, I think it's something that we're kind of obligated to discuss with our patients, to say, yeah, there is this other option, here's how it would work, here's what it would mean, and it's the latest, greatest kind of state-of-the-art. You know insurance isn't going to cover it or whatever it may be, but I do think we have an obligation to at least kind of bring it up with people, just so they know what all of their options are.
Matt Burgess:Yeah, yeah, I think I'm just thinking of all of the times I I mean, I've not ordered RNA testing clinically for six or seven years, but I remember I did have a family like I sent a sample to one lab and they found something that may have been a disease causing change. But they said we really need to do RNA testing. And it's funny, like from DNA, like a DNA point of view, you can take blood in a tube and the tube can sit on the bench for like days or weeks and it's quite stable for testing. But RNA it was like, oh no, it needs to go in a special tube, it needs to get to the lab within a day or two. And so it was kind of fun doing the logistics.
Matt Burgess:And in Australia I'm on the East Coast and then the lab that I was using for the RNA testing was on the West Coast and just trying to sort of coordinate that. Like I mean, it was just a bit of fun because it was something novel and we were able to get the result from RNA and then. So I got that result and I gave it back to the original lab and then they were able to change their classification, so they were able to say that this change that they found, actually, you know, there's enough evidence now to say that it is disease causing and then to be able to organise that for the family. You know, I was really proud of myself. I thought, yeah, this is really cool right.
Scott Weissman:I mean that's, I think, why a lot of us do this. I mean it's these are puzzles and we want to help these individuals solve the puzzles, if we can. And they want to know, and you know, you need to know all the pieces and how to potentially put them together. And, uh, you know, maybe the analogies are completely working where do you want, like, all the pieces in the box, or do you only want to work with some of the pieces in the box to put your puzzle together? And so I think you know, again, having those conversations with people about you know what these technologies can do and how they work is cool, and I think a lot of people you know at least they pretend that they're interested. They ultimately may not, may not be, but it seems like they are so it's kind of funny.
Matt Burgess:Yeah, like are they? Or it's just like well, no, you do the test, you work it out and then get back to me when we've got an answer right, exactly when I get the.
Scott Weissman:Well, you just tell me what to do and I'm going to do it. I go okay, we can, we'll, we'll kind of speed this up then at this point.
Matt Burgess:So, yeah, yeah yeah, yeah.
Matt Burgess:TractGene has designed a genetics electronic health record. Here's what it features Pedigrees, demographic data, genetics information, risk tools and sophisticated reporting, all within a clinician-designed workflow. It integrates within other clinical genetics software databases and hospital information systems to maintain accurate patient records. Trackgene has an experienced team who has been working in the clinical genetics industry for over 15 years. You can request a demo for free. Go to trackgenecom. That's T-R-A-K-G-E-N-E dot com. So you mentioned a couple of things there that I don't know much about at all. So maybe you can sort of tell me or educate me a little bit. You know the first one was long range sequencing. Like I sort of had a bit of a look in the literature and I think Nature sort of called it one of the most exciting sort of new techniques to come out last year. Is that something that you are really familiar with or like? Have you used this technology?
Scott Weissman:I mean, I have ordered it.
Scott Weissman:There's a laboratory in the states that does like these, um, triple repeat disorder panels for people that have like ataxias, and I believe that they are doing it to be able to kind of help, uh, get triple repeat sizes more exact and to be able to do it in in these large panels.
Scott Weissman:Uh.
Scott Weissman:But no, I, I have been hearing about these things for the past year and then at the NSGC annual conference they had a pre-con that spoke specifically about these new technologies, and so my takeaway from the long range sequencing is that it is going to be able to pick up issues of like methylation disorders, methylation issues that may be causing problems.
Scott Weissman:It may be able to pick up inversions. It may be able to pick up maybe more deep and tronic things and with the optical genome mapping like that, should really be able to help pick up again lots of different CNVs, but specifically like the really small CNVs that we know that next generation sequencing is missing, like the one exon CNVs that most laboratories will say that they can't pick up, that they can pick up those that they can potentially pick up inversions. So I just it sounds like it's going to basically fill in the gaps, for what we've been missing all these years, and the examples that they really gave were more in the pediatric space, but you know, again it seems like it would be these tests would be really applicable to the adult space as well.
Matt Burgess:Wow Okay.
Scott Weissman:That really is exciting.
Matt Burgess:Because I know you know sometimes if you're seeing a family and there's one person you know like there's a child that obviously has you know some major medical issues person you know like there's a child that obviously has you know some major medical issues, whether you know intellectual disability or you know different symptoms, and you do a test and you don't find anything, it's like, well, you know, maybe it wasn't genetic or you know, maybe there's some other sort of reason. But then I'm sure that you've had families like me where you know every single person has had breast cancer and you've done all of the testing and you can't find an answer. It's like, ok, there must be something genetic going on here.
Scott Weissman:Yeah, yeah, we are just missing it. Like we know there's limitations in the technology, we know are missing it, and that was a handful of the examples that they gave for the long range sequencing in the pediatric space where, you know, they got a hit. They got one mutation in the gene that fit with the phenotype but the other one was was normal. But when they did the long range they found that there was a methylation issue and so it was like two different hits, essentially two different genetic hits that you know we're just not typically doing a lot of methylation testing, unless one. It's a disease where we know methylation is a is a mechanism of disease. Or, you know, in the cancer space, you know testing, you know tumors to see, you know if they have Lynch or not. But, um, uh, yeah, so it's.
Scott Weissman:I just think it's. It's really exciting and you know, as you know, you're well aware, right, it tends to be the laboratories that are driving the new technologies into the space and you're going to have the early adopters and then it'll probably hopefully just be, you know, standard practice in the next three to five years. I just hope that, you know, we don't necessarily, at least in the States, have to do all the insurance stuff where the laboratories aren't going to cover it. It's experimental. The laboratories end up eating costs. The laboratories then have problems paying bills, and what we're seeing in the States now with kind of a lot of the transitions of the laboratories you know being bought and sold and laying off genetic counselors.
Matt Burgess:It's just kind of a crazy time.
Scott Weissman:Yeah, yeah, your medical system is a little bit complex, complex, I think, is a nice way of saying that it sucks.
Matt Burgess:But yes, yes, but yes, yes, so you're also involved as a consultant genetic counselor at a local Jewish genetic center. Can you tell us about your involvement there?
Scott Weissman:Yeah, absolutely so. I am a genetic counselor for the Norton and Elaine Sarnoff Center for Jewish Genetics. So this was an organization that was founded back in 1999 to educate the community, educate healthcare providers, educate clergy about genetic conditions that were more commonly found in the Jewish population Ashkenazi Jews, spartic Jews, mizrahi Jews, so lots of different Jewish populations. Then we were just trying to figure this out. We don't know exactly, but somewhere in the early 2000s, in addition to doing the education, we started offering kind of no to low cost carrier screening where individuals or couples, either both Jewish or one partner's Jewish so it could be interfaith couples Basically we wanted to make sure that they could get access for carrier screening at like. I said no to low cost, so they would pay like a nominal fee to participate in the program and then we would order carrier screening and basically make sure that they have zero out-of-pocket expense. And so this has evolved.
Scott Weissman:So I went through this program and I started having my kids back in the early 2000s I think I was tested for six conditions and now we're up to 267. We're doing one of the labs like specific panels that's been enriched for conditions that are more commonly seen in the Jewish population. So I help administer the carrier screening program as well as go out and do education for the community. So for me this is kind of like a full circle moment, because I worked with this organization, I was on their board as kind of like a medical expert for many years and now I'm able to serve them in a different purpose. So it's something that I really appreciate the opportunity to do and again kind of love going out and speaking to the community about carrier screening.
Scott Weissman:You know, obviously, different hereditary cancer syndromes. One of our founders is very passionate about dystonia. The DYT1 gene is more prevalent in the Jewish population, so we talked a little bit about neurologic issues as well. So we cover everything and basically people in the community can get access to a genetic counselor and have any questions answered.
Matt Burgess:You know at any time basically I think the genetic testing in the jewish community for people that may have um jewish ancestry is really interesting and it's a um a fascinating sort of way to see over the past couple of decades, how the ideas about testing has changed. Um like I, as, just as a genetic counsellor, um working in Melbourne where there's a large Jewish population, and I sort of understanding and learning sort of what is relevant, what's not relevant and um you know what's appropriate and not appropriate, and just it. It's really interesting because it's a combination of culture and religion and science and all of it is kind of relevant, but sometimes it's not, like I don't know what I'm trying to explain, but yeah, it's just very interesting well well, yeah, because when you, you know, jewish is an ethnicity, right, it's, it's, it's a religion.
Scott Weissman:But how we kind of, I think, relates jewish genetics, how you know, we're typically talking about people of eastern european descent who were founded from very small population.
Scott Weissman:You know, these individuals that kind of survived the diaspora and the Holocaust and have moved kind of all over the world and again, like a lot of populations, I think, generations back, were, you know, reproducing with other people of Jewish descent. So you have these things right, these, you know, tasacs and BRCA, flourishing and growing in the populations. And you know, I often one of the questions that we kind of often get is well, I don't understand why being Jewish makes a difference. And so there's just a little bit of education that we do about some of these events and how these things became more prominent and why essentially we look for them. But again, I think to your point, like it's something that I think that we're doing now, regardless of background, kind of moving away from that, you know, ethnic specific testing and really doing more of the pan-ethnic, uh, carrier screening at least. Again, that's what we're doing here. I'm assuming you guys are doing down there.
Matt Burgess:Yeah, yeah, I think um, I mean part of that, I think, was a financial thing, like we can't offer testing or we need to be wise or smart with how we're offering testing. So if someone comes from a particular background, we should do that sort of testing, whereas now, you know, testing is much cheaper and it's quicker and we kind of just, you know, give everyone a really comprehensive test. Um, yeah, you know, like, because someone can be just as you have the same amount of Jewish ancestry, but, you know, maybe they're Catholic and they've got three Catholic grandfathers and it was one of their mothers that was Jewish, compared to someone who is culturally Jewish and grew up in the Jewish community and has like four Jewish grandparents. So they sort of present differently but they could be the same. I think, like from a genetics point of view, it doesn't really matter.
Scott Weissman:Right, exactly Like, in other words, just something. So people will say, well, my mother wasn't Jewish, so I'm not Jewish, because in the Jewish culture, to be birthed, to be Jewish, you need to be birthed through a woman who is jewish. But you know again, as we know, you know, paternal genetics are just as important as maternal genetics. So it's like no, even though you know your, your, your paternal, your father is jewish, it's still, it's still relevant. Like, yes, you may not identify as as jewish for that reason, but genetically it still is, is relevant.
Matt Burgess:So that is one of those cultural, cultural issues that you were talking about yeah, another interesting change that I saw um, you know, I know that genetic testing happened in the schools and we sort of were organizing testing for like 15 or 16 year olds and hoping that they would remember this, you, you know, 15 years later, when they were thinking of having kids. And you know, like 15 years or 10 years in genetics is a really long time, and I guess it's sort of, you know, the idea has sort of changed that, you know, instead of testing in the schools, let's just test people when they're ready to have babies. Is that sort of like a change that you've seen as well?
Scott Weissman:Well, they still so, they in the Jewish population. There are still screening programs that do it in the school. So there's the Doryer Sharon program, which is again in the States and in Israel for individuals who are Orthodox, where they test them young, they test them for a smaller number of conditions and then they keep that information. It is basically masked to the individuals and then when these individuals are talking about, you know, being betrothed or two families coming together to bring their kids together, they will go to the matchmaker and they will look at the genetic results and basically say, yes, they're a match or no, they're not. But they still don't really know what their carriers for and exactly why they weren't a match or what the condition was. Even so, there is still some of that going on, you know, in the Orthodox population.
Matt Burgess:Yeah, yeah, it's interesting.
Matt Burgess:It makes me think of, like medical paternalism and how much information that we give people and how much we don't, and I know, sort of, um, I feel like I want to give everybody all of the information I want them to understand.
Matt Burgess:And one of the um carrier products that I use at moment and it's not targeted for Jewish people, it's, you know, open for everybody or people with any sort of background instead of telling people what they are carriers for, they've sort of gone back to just saying whether they're a high, you know, they're a carrier couple or not, and it tells them what condition that they're a carrier couple or not. And it says, like it tells them what condition that they're a carrier for. But if, um, you know it's sort of marketed, as this is a test for couples and, uh, you know, there's a panel of 500 or a thousand different genetic conditions or genes, um, but yeah, it's sort of just giving results for a couple and I don't know, I guess, if the couple are staying together and, um, yeah, that's the test that I want. It's probably a good thing.
Scott Weissman:Is it partly that they're trying to avoid having to deal with some of the dominant risks like ATM and breast cancer or GBA and Parkinson's disease, like? Are they trying to kind of avoid having to have those kind of conversations where they just want to focus on family planning and don't want to talk about that, because that's interesting?
Matt Burgess:Yeah, I don't know. I might have to sort of get in touch with the lab and sort of find out exactly what their motivation was Like. I know that it sort of came from research and so there was less dollars to do the testing, so it was cheaper for them to kind of just identify carrier couples. But now that it's sort of moved over to clinical and you know it's commercial, you're paying for it, but they still sort of have the same sort of result guidelines. So yeah, I'm not really sure there.
Scott Weissman:So it's interesting. So, if I'm understanding people in Australia, they can either maybe have a test that is paid for by the government as part of the social health care, or they could pay for a broader test on their own that has more conditions. So there's kind of two ways they could go about it test on their own.
Matt Burgess:That has more conditions. So there's kind of two ways they could go about it. Yeah, what happened was look, so we have universal healthcare and we've got Medicare and I mean, yeah, I was going to say it's complicated, but maybe it's not as complicated as in the United States. But you know, if you see a genetic service, usually you need to have a referral from your doctor and then Medicare pays for the appointment and if you meet criteria for testing, you get tested. So you know, like if you've got a family history, of Huntington disease or you know syndrome.
Matt Burgess:We would usually pay.
Matt Burgess:You know the test was covered. However, for whatever reason, the carrier screening was not covered and it really had to be something that people paid for themselves. And I think about five, six, seven years ago there was a girl in Sydney who was born to a couple and she ended up dying before her first birthday from spinal muscular atrophy and her parents. So her name was Mackenzie and so her parents made or came up with this campaign and called it Mackenzie's Mission and through their sort of advocating to the government they were able to, and along with sort of genetics professionals in Australia, they were able to come up with a government-funded genetic test. So I think that they needed to offer testing to 10,000 couples in Australia. So that was still very much in the research space. But from that the government said, okay, well, we will offer government funded testing, but only for cystic fibrosis, spinal muscular atrophy and fragile X. So we do have funded testing now in Australia, but it really is only for three conditions and if people want a bigger panel they need to pay it's interesting.
Scott Weissman:Um, there seems like a whole road to go down with that and like no, no sickle cell, like it's.
Matt Burgess:It's interesting yeah, I mean, I guess yeah, there are like most GPs if when you say that you're thinking of having babies, they'll do an electrophoresis, you know, to sort of see if people are carriers of different blood disorders. But yeah, anyway, complicated.
Scott Weissman:I think that is more complicated than here. Okay, so we have mutual issues. That's good to know it's not just one-sided. Yeah, that's great.
Matt Burgess:So it's been lovely chatting to you today and I want to let you go, but there was just one funny sort of story that I heard on the Great Bar and I wanted to ask you about it. Oh, my God, okay, I heard that it was Dr Lynch that you were working with and maybe you gave him, um, a pedicure or a manicure or something.
Scott Weissman:Uh, yeah, um. So, uh, dr Lynch uh started the program that uh I worked at when I first came out of school at it was Evanston Hospital in Illinois and he would come up once a month because he had a research study that he was doing on the APC R1307K variants.
Matt Burgess:This is Dr Henry.
Scott Weissman:Lynch, this is Dr Henry Lynch, correct? This is the guy. And so I would get to see him once a month and he would, you know, he would tell these amazing stories, some of which I can never repeat. I mean, it was just, it was fascinating to learn from him. And then one day he came in and he had a giant, um, a giant hangnail on his thumb and he's like, uh, scott, I need you to go get a pair of scissors and cut this off. And I was like Dr Lynch, I'm not cutting that off of your hand. I'm like, I'm not going to be the guy that cuts off Dr Lynch's thumb, like that's not how I want to go down in history in the genetics community. He's like, it's not a big deal, you won't cut my thumb off, I promise it'll be fine. So I got a giant pair of scissors and cut this hangnail off of his thumb. Thankfully, I did not cut his thumb off, but yeah, I gave Henry Lynch a very, uh, very, uh short manicure, oh, wow.
Matt Burgess:So, yeah, that, um, it was, um, you know something that, uh, I get to tell on occasion, uh, but yeah, oh, that's funny because, um, I guess for the listeners who don't know um, dr lynch has lynch syndrome named after him. And when I went to university and I'm sure it's probably similar for you I learned that there was this condition called um hnpcc, or hereditary um non-polyposis colorectal cancer, and then it sort of changed, or you know the the idea was that it should be named Dr Leap. So I guess I don't know too much of the story, um, but yeah, that's my very superficial understanding of it.
Scott Weissman:Yeah, well, I think you know, I think it was a couple of things. I think there was one. Uh, we began to recognize that there were like these Lynch families that clearly had mutations in the mismatch repair genes in that cam Right. And then Heather Hample and her colleagues identified the biolelic mutations in the tumors that were making it look like. So there was like another presentation. And then there were still families that had colon cancer in them but weren't Lynch and it was a study out of Mayo that called it like familial colorectal cancer type X.
Scott Weissman:I don't know if you remember that, that study from way back when, and I think there was a concerted effort as a way to acknowledge all the research that Dr Lynch did. You know over the, you know 50, 60 years, that you know when you identify a mismatch repair gene, like that is Lynch syndrome and everything else is not, and so I think again, a way to recognize him. I'm not sure if that was spearheaded by, like the collaborative groups of America. I'm not sure how that, really who spearheaded that, but I think at least in the States that's how we typically do it. Now it's Lynch or it's not.
Matt Burgess:Wow, and you cut his nail.
Scott Weissman:Yeah, and I gave him a very small manicure, so yeah, Excellent.
Matt Burgess:Well, what a beautiful place to finish up our very interesting conversation.
Scott Weissman:Thank you so much for being a guest on Demystifying Genetics, Matt. It's good seeing you again and I appreciate the invitation to come and talk to you today. Thank you so much.
