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
How Genetic Counseling Is Evolving Beyond Hospital Walls. Demystifying Genetics with Lauren Giannetti Sferrazza
Lauren Giannetti-Safaza, a genetic counselor from New Jersey, shares her journey transitioning from clinical practice to industry and discusses the evolution of genetic counseling roles. Throughout the conversation, she offers insights into balancing professional responsibilities and personal experience as a pregnant genetic counselor preparing for childbirth.
• Clinical burnout as a catalyst for moving to industry positions
• Shifting perceptions of industry roles from "the dark side" to valuable career paths
• Potential for broader patient impact through industry versus direct clinical care
• Balance between job security in public health versus higher compensation in industry
• Implementing gender-inclusive care in genetic testing companies
• Evolution of non-invasive prenatal testing (NIPT) and the rise of "gender reveal" culture
• Point-of-care genetic testing models in cancer care
• Need for genetic counselors to support clinician-ordered testing
• Balancing ideal practices with practical realities in genetic healthcare delivery
Demystifying Genetics is sponsored by TrakGene
https://www.trakgene.com/
This is Demystifying Genetics. I am your host, matt, and I am a genetic counsellor in Melbourne, australia. I have a genetic counselling and testing company called Rosalind Genetics and I see patients from across Australia. I am passionate about clinical genetics. In this podcast, my guest is Lauren Giannetti-Safaza. Lauren is a genetic counsellor in New Jersey and in this episode we start by discussing working in industry. Enjoy, hello Lauren, and welcome to Demystifying Genetics.
Lauren Giannetti Sferrazza:Thanks so much for having me, matt. How's it going? Good, good, you know I am waiting any day for my child to pop out, so that's exciting. So, yeah, I am on, I guess, maternity leave at the moment.
Matt Burgess:Well done, congratulations. It's funny because as a high school student I thought, you know, I kind of left everything to the last minute and I thought, as I matured and you know, I worked my way through university and different degrees that I wouldn't keep leaving stuff to the last minute. But I feel, like me and you, like, your baby is literally due today.
Matt Burgess:We kind of have left it to the last minute, but I'm so glad to have you thank you so just um, give me a little signal or let me know, like if you know your waters break or we need to, like, get you to the hospital that would be phenomenal.
Lauren Giannetti Sferrazza:I'd be very happy if that happened. I'll just I'll just stop you and say, hey, I got to go.
Matt Burgess:Yeah, I mean, I would appreciate to finish the podcast, but yeah.
Lauren Giannetti Sferrazza:Just finish it in the car on the way to the hospital. It's fine, it's really fine.
Matt Burgess:Oh look, I've got some really interesting things to talk to you about today. I mean, maybe just to start with, I know that in the genetic counseling field there are you know, it's mostly women. That that's not a big surprise, and one of the things that we sort of discuss sometimes is um transference and counter-transference when uh, we're pregnant. It has been pregnant and being a genetic counselor umor sort of been interesting or like raised those kind of issues that we sort of knew. But you're experiencing?
Lauren Giannetti Sferrazza:That's such a good question. Yeah, you know I and, to be completely transparent, I actually did fertility treatment. So I really, you know, was very science, but this pregnancy is very science-based to begin with. So I think it was interesting to be on the other side of the desk. That's kind of how I viewed myself. I used to work with this fertility center. I used to be the genetic counselor there, so it was interesting to be on the flip side and I kind of tried to just let things happen and not be too type A like I usually am, like a lot of us are. I did my carrier screening many moons ago, so that was taken care of and I tried to just let the professionals do their thing and I kind of took a step back.
Lauren Giannetti Sferrazza:I did have a really interesting kind of session this morning, not with a genetic counselor but with an ultrasound tech, where I went in and she made a comment and I don't think she realized. I heard her where she's like, oh, what's that? And my ears pricked up, you know as a patient and as a genetic counselor, and I see her going over and over and I was like, okay, she's looking at the brain. What is she looking at? How is she measuring? So it's there's always going to be that bleeding into your personal professional.
Lauren Giannetti Sferrazza:Another really interesting example was I was doing a fetal echo and the woman who was doing the echo was a breast cancer survivor and she started asking me what do I do for work? And I'm like, oh man, you know I try really hard not to. I try hard not to, you know, be preachy or oh hey, did you do? But it just kind of naturally came up and so we talked about how she had her genetic testing. But she only had, you know, the old school BRCA one and two. I don't even know what if she had full rearrangement testing. And so, yeah, we had a little. I tried to keep it short and sweet, but when you're going to the doctor, that often I mean it's just going to happen that these things come up. Whether it's about your own health or somebody that is taking care of you, bring something up. So definitely was interesting, definitely interesting.
Matt Burgess:Oh, that's funny. Like I don't actually identify as a type A person. I think I'm much more type B, but because a lot of people that we have as clients have no idea what genetic counselling is or they don't know what to expect, I really feel like a big part of my job is like I've got you, I know what we're doing, I've got the session planned in my mind, like you just have to trust the process and I will guide you in a very patient-centered way. But it must be interesting to sort of be on the other side and go okay, well, you know what, like I'm just going to trust the process. I don't actually have to like lead this and you know whatever needs to happen will happen. So, yeah, well done.
Lauren Giannetti Sferrazza:I tried. I mean, you know, of course I always slipped in. You know, when I was getting my fetal echo, they're like, oh yeah, we do this. And I was like I know why we do this and I know what it says and I can read them. You know the echo.
Lauren Giannetti Sferrazza:They're like oh OK, come into the counselor Like, oh OK, you know they get really excited. So I try, try not to pull out that card very often, but I just. Usually it's when they're asking me like you reported a family history of so-and-so, and they start going and I'm like, hey, so I'm not trying to be rude, but you really don't have to waste your time going through all of it Like I'm a genetic counselor. We got, oh okay, great, you know.
Matt Burgess:So I tried to as much as I could just let them do their thing without getting too crazy. Yeah, so one thing that I'd really like to talk to you about today is working in industry. You know, I guess when I was living in America and I worked in industry, one of the things that actually really helped me was listening to you on your podcast, or a podcast that you were involved with. You know, when I was going through Spotify looking at all of the past episodes, you were actually involved with quite a few. How did you find that process?
Lauren Giannetti Sferrazza:Oh, yeah, I'm trying to think of the because I do a lot of different stuff.
Lauren Giannetti Sferrazza:Yeah, I'm trying to think of the because I do a lot of different stuff.
Lauren Giannetti Sferrazza:I kind of throw myself into a lot of things, but I know my company for a long time had a couple of podcasts that we were doing with our chief medical officer, tj Slavin, and so that was really cool just to kind of talk about different topics and try to get a feel for, you know, what does somebody that doesn't work in industry, what do they need to know about this topic, or what's really important? Or if you're seeing this type of result, how do you then translate it into clinical practice? So that, I think, is really interesting and it kind of leads to this idea that working in industry doesn't mean you have one job and one job only. It's really fluid and you can make it what you want it to be. So it's not just I work for this company and this is my one job. You know you really kind of can create a lot of opportunities for yourself. So I really loved doing podcasts and doing webinars and hosting tumor boards, and so I kind of threw myself at those opportunities when they presented.
Matt Burgess:It's not something that we usually spend a lot of time on as genetic counseling students. You know, it's like we kind of learn.
Lauren Giannetti Sferrazza:Or at all.
Matt Burgess:Yeah, and I remember when I was a student some of my classmates had sort of genetic counseling kind of semi-related or adjacent jobs, whereas I was a salesperson at a large electronic store and I really felt like it was a disadvantage, whereas in hindsight I think being a salesperson actually gave me skills that I used as a genetic counsellor Absolutely. And you know like I really liked the CMO who you worked with. He was obviously very sort of knowledgeable and charismatic, but when I listened to you two together I thought it was really cool how I thought you were the one that made it more relevant or you would bring it back on topic and it sort of reminded me of like in clinic, when genetic counselors and geneticists work together.
Lauren Giannetti Sferrazza:Yes.
Matt Burgess:And like because, as a new genetic counsellor, I remember thinking what do I have to add to this? You know they're the doctor, They've got a medical degree. Like, what am I adding to the process? And you know, listening to the podcast with you and TJ, it was like, ah, I know exactly what the genetic counselor is adding and, like, you're making this a much better conversation.
Lauren Giannetti Sferrazza:Yes, well, thank you for that. I appreciate that. I loved working with TJ. That was kind of our dynamic, no matter what we were doing together. You know, I think somebody that's just so wildly what we were doing together. You know, I think somebody that's just so wildly talented and intelligent. Sometimes they get lost in their own thoughts and so it was kind of my job to bring it all back and say, okay, yes, great, excellent points. How do we now apply it? Like, what does this actually mean, giving that practical application of whatever we're talking about? So I think about that too.
Lauren Giannetti Sferrazza:A tumor board I mean we had some really heavy hitter national thought leaders on there and in my head you start getting imposter syndrome. I'm like who the heck am I? I mean, I'm just this genetic counselor. This person is on X amount of clinical trials. They're the head of this really impressive academic institution and running all of these different things. But I think that, like you said, we have a really unique skill set and we have different skills that are transferable from other positions that we've held or whatnot. So I think that it's been really interesting just to see where you put your passions, you let your passions drive you and then how you kind of figure it out within your role.
Matt Burgess:And. I guess, that passion that you have in industry? Was that something that you always knew, that that was sort of the area that you wanted to get into, or did it sort of evolve after? How did that kind of take place?
Lauren Giannetti Sferrazza:That's a really great question. I started in clinical practice. I love patient care. That's why I became a genetic counselor. I love genetics.
Lauren Giannetti Sferrazza:I knew bench work was not my thing. I did evaporate my gel electrophoresis so I just was not good at the lab. So I was like, okay, this is not going to work for me, but I love talking to people, I love advocating for patients. So I did that for a while. I did as I mentioned.
Lauren Giannetti Sferrazza:I worked with a fertility center and I got very burnt out. I was seeing nine 10 patients a day. It was highly emotional. I was on call all the time because these fertility patients you know things can change with a snap of your fingers. So they were wonderful, just a lot for a brand new grad.
Lauren Giannetti Sferrazza:And so I did about four and a half years and had a lot of friends that were working at the company I currently work at and I had some hesitancy about going into industry. For me it was like, well, am I now just not doing what I set out to do? I want to be there for patients, I want to be a patient advocate. How do I do that? Working in industry and by listening to other people that worked in industry. I was really impressed by the amount of people they were able to impact versus my direct impact was, however many patients I was seeing and that's kind of it. So it's very small versus an industry. You impact potentially millions of patients, especially if you're working in like payer markets or you're helping to change guidelines. You know that kind of thing.
Lauren Giannetti Sferrazza:So I never saw myself in industry. There was an opportunity that presented itself. I felt like it was a good fit. I was ready to kind of remove myself from direct patient care and I've never regretted that decision that I made. And it's interesting because a lot of students so we have a lot of students that rotate through I'm still involved in a lot of different programs.
Lauren Giannetti Sferrazza:They from the get-go kind of say, hey, I think I want to actually be in industry. I don't know that. I want to do direct patient care and I'm looking at the date now I graduated oh my gosh, like over 10 years ago. It's just crazy to say that was not an option for us. It was like you go into clinic and you do prenatal or peds.
Lauren Giannetti Sferrazza:There was maybe one or two cancer jobs at the time, but it just it was not. It was not positive. If you went into industry you were looked down on that. Oh, you're not giving back to our community, to our patients, and that's just so different now. So I had, I think, kind of a traditional way of getting to industry. If you're somebody that's of my generation nowadays, I'd say, like for the past I've seen a change, maybe four-ish years. We've seen more students going right into industry because they have industry rotations. So they know what it is, they get it, they say this is it, this is what I want to do, and we're happy to hire new grads too. So that's kind of my story.
Matt Burgess:You bring up a really interesting point. Like it's something that I think about, especially, you know, my involvement with teaching genetic counselling students, and the option, or, yeah, the option of going straight into industry. Like I don't know if I'm just a bit old-fashioned or a purist, or but I kind of think, oh, like, my advice is, usually do your time clinically, like, do your time, yes, like a public hospital, like I think, if you like, if you were kind of um designing like the perfect career path, I think you know, maybe two years in a large public hospital, get experience in many different areas, and then sort of go in and I don't know, like I sort of question myself and I think you, you know, is that the best way? Like you know, and why are we? Why do I think that? And, you know, if you do go straight into industry, is that a disadvantage? I don't know, it's still something that I think about.
Lauren Giannetti Sferrazza:I think about it the same way too and I'm of the same kind of mindset of. You know, get your stripes, do your time. It sounds like a jail sentence. Do your time, get your street cred. You know.
Lauren Giannetti Sferrazza:I think it helps, depending on your role, because right Industry doesn't mean you're just. I'm an MSL manager, a medical science liaison manager. My team supports people that are ordering genetic testing. So it does help to have clinical experience with that role and people will look to you more if you've had clinical experience. But if you're in a role a marketing role or payer markets role, or your direct patient support, you know, having clinical experience may or may not really be beneficial or they don't really care.
Lauren Giannetti Sferrazza:It's hard because it is that bias I think that you and I have it A lot of people have of. Like I probably would look favorably on somebody that has that experience. I mean, I just hired, I just had added somebody to my team. I'll probably be hiring again and again and again and I always look for somebody with clinical experience because of the role I'm trying to fill. So I think it's.
Lauren Giannetti Sferrazza:It depends on, I guess, what role the person's trying to fill. But I do think that there's that mentality of a couple of years under your belt. Then come into industry so that when you know different people have questions, you could say, oh, this is what I used to do. Or hey, I can feel your pain, I get it. I understand how challenging insurance is. Does that mean somebody without clinical experience would be like a poor candidate? No, there are really great people that rotate through. They do a great job. So I'm trying to get over my own biases with that, especially as a hiring manager, but definitely the role that that my team has. We look more for people that have actually like five to eight years of clinical experience because we have a pretty highly successful, highly educated, experienced team. So you and I are on the same page with that. I'm trying to get over it.
Matt Burgess:Well, I mean, it's good that you sort of are able to reflect on it and think about whether that's the best way forward or not. I guess one thing that makes Australia and New Zealand sort of different from America is it's much harder to become board certified in Australia if you're not going through a clinical pathway. Yeah, yeah, like in America, you see the board exam and if you pass you're board certified, whereas over here, yeah, it's sort of like a portfolio and you need to have cases and clinical hours, and I think it's the same in the UK.
Lauren Giannetti Sferrazza:I had somebody that was moving to the UK and I talked to her about, you know, are you still going to maintain what you have done here? Because here's different If you move back, it's a very different credentialing system and it's a lot. I mean, I give everybody outside of the US a lot of credit because it's a lot of work. I mean, it's a lot of work to maintain what, what you're doing and get that certification. Versus us it's like, oh, just pass an exam, get your CVU, which is a big deal, I'm not downplaying that, that was hard too which is a big deal, I'm not downplaying that. That was hard too, but it's definitely not as painful.
Matt Burgess:I think, just kind of reflecting on what I've heard about, you know, outside the US, and I think you know one of the things that influences that, especially in the United Kingdom and Australia, is the fact that we have national healthcare systems. So genetics and you know, clinical genetics is really based in public health and public hospitals.
Matt Burgess:So, and that's not so much the case, if at all, in the United States and one of the things what I'm sort of leading up to is I wanted to talk about that idea, or this concept that most of us in the genetic counselling industry understand, of going to the dark side.
Matt Burgess:You know, like working in industry. It's something you know as an experienced genetic counsellor who lived in America and then worked in industry and then now I'm back in Australia. I feel like we look to our friends and colleagues in America and what you guys have done, you know we're sort of a little bit behind, so we see what you have done. You know we're sort of a little bit behind, so we see what you have done, and there are lots of opportunities for genetic counsellors in industry whereas like, probably I would say like 95% of genetic counsellors in Australia work in the public health system, so there's not as many opportunities. But there really is this feeling that you're sort of going to the dark side. Let's talk about that. What do you have to say about that? Is that something that you kind of feel or have experienced?
Lauren Giannetti Sferrazza:I definitely experienced it Again. Like I mentioned, I graduated over 10 years ago. Where industry jobs were, they were there but they weren't as favorable to take. And when, um one of my friends, uh, actually went right into industry from school, um one of our teachers and assistant program director at the time said oh wow, you're going to the dark side. And just to hear that from somebody that's mentored you, you're like ooh, that's kind of a running joke for anybody that works in industry, because it's kind of like okay, that was the sentiment many moons ago.
Lauren Giannetti Sferrazza:It has very much changed, especially with kind of the new mentality. I think students are way more open-minded nowadays, especially with kind of the new mentality. I think students are way more open-minded nowadays, especially with getting clinical hours with labs so that they see what it is, you know. I wonder if that mentality of going to the dark side is, you know we're working for for-profit companies and we're making better salaries. It's hard because I never had that sentiment, so I don't know where exactly it comes from. But I think that people that graduated prior to me, like that, have 20 or 30 years of experience in the field. Maybe they still have kind of that kind of uninformed opinion. I do feel like it isn't as much happening because we've seen so many more people come from clinic moving over to industry.
Lauren Giannetti Sferrazza:Even when I have conversations with people in clinic, I tell them hey, listen, you know you're burnt out like go to industry, you still can impact patients, you still can do what you're doing but be more efficient and you're not going to want to cry every time you leave work because you have this many charts to finish and you're not getting the support from the hospital system to hire another person. I mean, industry is not perfect. It's a lot of dollars and cents so you have to be business savvy and kind of get it. But yeah, it's, the conversation has changed so much.
Lauren Giannetti Sferrazza:But yeah, the people people definitely questioned me when, when my transition happened, especially with the company that I work for, and people were looked at me and they scratched their head. They said, okay, well, I feel like I trust you, so like, if you're going to this company, you know maybe I need to think again about industry and this company and the credibility, and so I think the more people that transition into industry and we've all made reputations, we're credible, we're. We're all genetic counselors. We all came from the same place. You know that mentality starts to shift, but definitely an old school mentality still happens.
Matt Burgess:And I guess, like anything in life, there's positives and negatives.
Matt Burgess:And especially working in public health. You sort of once you're in it, you know there is job security there, like it is, you know like it's almost a job for life, whereas, yeah, you know, one of the disadvantages of working in industry is that, um, and you know, something that we've seen and I've sort of experienced personally was um the layoffs that can happen and, you know, restructuring of companies and that. But you know, you mentioned sort of reimbursement or you know, like salaries and stuff, and sometimes, like I realized that some of the MSLs or you know people working in industry were probably on double what people in clinics were on, and it's like oh.
Matt Burgess:I don't know whether this is sustainable, but you know there are huge benefits and it can be really interesting in your career progression to sort of spice it up and change things.
Lauren Giannetti Sferrazza:I agree, and I do think you make a very good point, that some of these public health roles, clinical roles. Usually you don't see people getting furloughed or laid off from clinical jobs. I mean because they're so slim to begin with. Unfortunately they're not well paid. We all know that. I mean you look at the professional status survey. It's gotten better, but it is pathetic. The amount of money that genetic counselors are making in clinical practice. It's like insulting actually, and I get it. We can't bill for our services. Usually the hospital takes a loss or whatever, but it just it's a double-edged sword. You have the job security. You're not paid as well, you don't have all these fun benefits. But when you're at a company that's publicly traded and the stock market crashes or your stock goes from X to Y, there's a really high risk that there's going to be layoffs and we've seen that.
Lauren Giannetti Sferrazza:Like you mentioned, the past couple of years has been really rough, really rough for industry genetic counselors. I was the co-chair for the Lab and Industry Special Interest Group for NSGC and a big part of what we talked about is we need to be here as a group to support one another. We need to start doing more networking, professional development, thinking outside of the box, because when you get laid off, you need to kind of recreate yourself a little bit and think outside of the box of opportunities, not just okay, I have these skill sets, maybe you want to do something else, maybe there's a sales role, a marketing role, maybe you go back to clinical practice. You know we have to really start getting very fluid with what we're doing and, just like you did in the beginning, you thought about okay, I don't have a genetics background, but these things apply to what I'm going to do. We need to start thinking like that more because, yeah, it's been a really, really rough industry right now and so it's a challenge just to feel comfortable in a role, being like especially a new person in a role, thinking about okay, how is the market, how are politics going to influence my livelihood. So I think those are all bigger concerns in the last couple of years than we've experienced, you know, over my time at.
Lauren Giannetti Sferrazza:You know my company. I've been there almost seven years now. The past couple. I mean we've been very lucky, we kind of run a tight ship, but we've seen other other companies, unfortunately, you know, make decisions that then impact a lot of their clinical people, and so that's been, that's been, scary. We have a lot of people that end up going back to clinical practice, not because they want to, because they need to, because they need a job, which is never good. You want people to be employed and be working within a role because they want to, not because it's out of necessity.
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Matt Burgess:So you mentioned money. So what I wanted to sort of ask you about was when you work publicly, you know, as a genetic counselor in a public hospital, really like the. The model that they use in australia is the. Whether it's the state government or the federal government, they give, give like a bunch of money to the hospital and then they have a budget that they you know they need to use, and whether that's paying salaries or paying for the genetic tests and all of that. But as a genetic counsellor working publicly, you don't really need to think about budgets or money too much, whereas when you work for a private company, and especially one that's listed on the stock exchange, you know that is kind of everywhere and it's really important.
Lauren Giannetti Sferrazza:Sorry this is a long question. No, no, it's go ahead.
Matt Burgess:Yeah, trying to get that. But what I wanted to talk to you about is, like I know that you're quite passionate about gender inclusive care and it sort of just made me think when you're a privately listed company, like a publicly listed company, it's really important to have you know a lateral like that is appropriate. And you know you can't really do anything without compliance checks and people checking everything me about gender inclusive care and what you mean by that and how, as an MSL manager at a big genetic testing company that has sort of become part of your role.
Lauren Giannetti Sferrazza:Yeah, it's been interesting and, as you mentioned, you know being publicly treated. There's a lot that goes into that whenever you're trying to make a stand about something. So you have to think about when I'm trying to make this topic relevant. Why is it relevant to me as a MSL, as a genetic counselor? Well, it's because I believe everybody should get good care. They should have affirming care. So when we say gender affirming, we want to make sure that, whether somebody is trans, cisgendered, agendered, whether they're bi, straight, gay, wherever they fall on the spectrum, that we're providing good care for everybody.
Lauren Giannetti Sferrazza:And what does that look like at a genetic testing company? Well, we need to make sure that the way we deliver our services, our results, are in a way that is not going to invalidate anybody's identity. So an example of that would be on some reports. Genetic testing reports, it'll say what's the patient's sex or what is their gender. Reports, it'll say what's the patient's sex or what is their gender. Anybody that's dug into gender inequalities or gender inclusive care understands that sex and gender are completely different terms.
Lauren Giannetti Sferrazza:I mean just and I you know again, it's not like I'm an expert, I am no expert. It's not like I did this I did was my in college or I'm this scholar. It is because I just learned, I took the time to research and to learn, and so when you're at a company, a for profit company you have to start thinking okay, this is important to me as a clinician, is important to my patients. How does what I'm trying to change because it's going to take resources, which is dollars how do I legitimize that to our shareholders, to the board, to our business leaders? How do I make a business case as to why something that a lot of people believe impacts a small amount of patients actually doesn't? It's bigger than that. It's. How do I make this so that they understand they being the people that make these decisions on funding and where budgets go? Like you said, thinking of all this stuff, how do I make it so that they understand the importance of why we're making the argument we're making, how it aligns with the core values of the company and how we can do it in a way that is efficient, it's not going to cost a lot of money and then being flexible, because we have our pie in the sky, and then we also have to say what is the bare minimum we have to do and we need to get to that bare minimum and work towards the pie in the sky.
Lauren Giannetti Sferrazza:So, very sorry, very long winded answer, but I think I got into just this type of work and passion because I had noticed that a lot, of, a lot of collateral, a lot of things that were patient facing were not inclusive. I started to have conversations with people in the genetic counseling community about like hey, talk to me about this. Like what are you doing and how are you in your clinic or in your lab? What are you doing to make this better? Because we know, in general, people that identify as LGBTQIA+, especially trans people, there's such a high rate of suicide and it's just not acceptable. So we need to create a space where people feel like they're being validated, accepted and so, working at a company that delivers so many results to so many patients, we have a unique opportunity to really help in general with that topic.
Lauren Giannetti Sferrazza:But also I see it as an educational opportunity for our customers. You know there's there's a lot of people ordering genetic testing that are not in the New York metro area, like me, that get it, or in California and San Francisco, like we all get it in the those areas. But you know in the middle of the country or you know in the South, maybe this isn't a topic that they understand or want to know or want to talk about and so kind of having this as part of our process. So an example is we have sex at birth, no longer sex or gender, you know. That allows people to question and say, well, why did they have that sex at birth? I wonder why, and hopefully people would start Googling or educating themselves.
Lauren Giannetti Sferrazza:So I see it as an opportunity for us to advocate, almost silently in a way, to some of our customers too that maybe don't get it as much. So there's a lot of layers at it as much. So there's a lot of layers, especially when, when, when your company acquires a non-invasive prenatal test that is meant for revealing gender only. That is the only purpose of that test. So that was that was tough to kind of navigate with gender inclusive care. You know, the the non-invasive prenatal screening, testing, whatever we're calling it nowadays, can be super invalidating for people in general, and testing is not going away. But how do we package it or how do we message it or how do we educate about it in a way that is not going to be harmful to other people is not going to be harmful to other people.
Matt Burgess:That's been a lot. You're definitely right, it is layered and I guess, having this sort of conversation in our current, you know, period in the world, you know, I think that there are some people that maybe are quite radical or you know their, yeah, their values or their points of view are quite extreme. And then, you know, over the last couple of years we have sort of you know, this idea of wokeism and you know what is woke and you know it really has sort of come into common parlance and it kind of makes me think, you know, there has to be like a happy medium, like I don't think we need to, I don't know, like maybe I kind of think sometimes I'm a bit too conservative, but I think that it is possible to kind of change and to do better without being considered or seen as woke or, you know, just doing it to please, you know, a certain segment in the community or yeah, absolutely, it's super layered.
Lauren Giannetti Sferrazza:And and the other challenge is, you know I am very involved in this topic through lab and industry, sig, through my work at my company, through a lot of different avenues. If you don't work in industry and you don't kind of see what goes on behind the scenes, it seems very easy Like, just change your paperwork, just change this, just do that. It's a lot more complicated than that, unfortunately, and, like you said, that extremism actually doesn't help my cause at all. I have people that have been really not nice, not to me. I mean, everybody's been really great, because I just, I'm like sure, give me your opinions. Like it's not, it's fine, I'm always open to the conversation.
Lauren Giannetti Sferrazza:But you know, we've had meetings with some of our leadership and some people in the community and in the genetic counseling community and that level of extremism, you know, really to one way it's it doesn't work well.
Lauren Giannetti Sferrazza:Again, we have to think about how is this going to look for our shareholders, for our board members?
Lauren Giannetti Sferrazza:Like there are people on the board that I don't know what their belief system is or what they agree or disagree with, and so, especially when you're a company, if you're making a statement, the whole company and the board has to be behind that statement, so that becomes challenging.
Lauren Giannetti Sferrazza:That's been a big challenge for me where my personal you know I'm a little more liberal than what you know I'm allowed to do or to change within the construct of my company. What's nice, though, is my husband is in human resources at a different, at a pharmaceutical company, and he reminds me he's like you know, you want things to move really quickly. You know that does not happen, and you all have made so many big changes in such a short amount of time. Like you should be really pleased, and they're continuing to entertain these changes and make them better. But but we do have to have a happy medium, because if we go too extreme, we lose some of our customers, we lose our shareholders. So I think that the business aspect becomes crucial in understanding, when you're advocating for a change, making sure that you're not going too crazy, too off the board with it, because it's just not realistic, unfortunately.
Matt Burgess:Well, thank you Lauren's husband. That sounds like a beautiful, positive reframe.
Lauren Giannetti Sferrazza:It was a very good reframe. I you know I looked at him for all of that.
Matt Burgess:Yeah, I know, sort of clinically myself over the last couple of years working with mainly couples having NIPT, like I kind of, you know, like this, like if we take a step back, you know, this whole test was created to analyze the baby's chromosomes and really it was to look for the main chromosome problem, which is trisomy 21 of you know, down syndrome. However, in creating this test, we're able to look at the sex chromosomes and the sex chromosomes gives us our biological sex most of the time. And in practice I have sort of made a conscious point of talking about sex, like when I'm showing, you know, as a good genetic counsellor, I've got my carrier tight and I sit there and explain the chromosomes and it goes from one down to 22. And then the last pair are our sex chromosomes. And I say you know, this test has a look at the sex chromosomes.
Matt Burgess:It tells us the sex and then I say you know how would you like to get your results and would you like to know the sex of the baby and whether people say yes or no? And you know it's all exciting to think about that. But then the next thing that they say is we're doing a gender reveal party or like the whole reason that we're doing this is to find out the gender, and I mean I don't correct people, but it is. It's like, I think, most of the time at work, when I hear the word gender and that's from my colleagues and my patients what they really are saying or what they're talking about is sex. Yes, and I think your husband's right like to change, you know, without being too extreme, but to slowly change that idea or to explain that there is a difference between sex and gender, and it just takes time and it's complicated it does, and it's layered and yeah, all of those things.
Lauren Giannetti Sferrazza:And I feel like gender reveals were not like a big thing, maybe like when NIPT first came out, like I remember sequenom was like really big, they were like the first, or they had maternity 21. It was just for trisomy 21 down syndrome. That was like 10, 11, 12 years ago and it's evolved since then obviously, but I guess in the past probably I don't know six, maybe five years, the gender reveals have gotten more, like people always wanted oh, what's the baby sex? I want to know. But then it it wasn't like they were doing that testing just for that purpose. So it's been interesting as patients become a little more savvy with their own healthcare, their motivations for doing certain tests change over the course of time. So I think that's been really interesting, along with, obviously, like the 23andMe that stuff, like people are very motivated to do certain tests and the reasoning a lot of times is very different than us in clinical practice why we would want them to get the testing.
Matt Burgess:Yeah, I think it's fascinating because, like, like, yeah, I was thinking of this, the other day I saw a couple and their whole and you know, this is not, um, a judgment call and it is what a lot of couples are doing but they really came in and their whole, like their sole purpose was to find out the sex of the baby for a gender reveal party and, yeah, they hadn't done a lot of, um, you know, medical stuff before and I kind of had to.
Matt Burgess:I said, you know, like, and I think that it's lovely that as genetic counsellors, you know, I in in my with this particular couple, I had time to sit down and really chat to them and you know, it was their appointment and I was able to sort of have a really good conversation and facilitate things. Was what you want or what you're asking is completely fine and I'm happy to facilitate that. But it's within a medical consult. Like, this is actually a medical appointment and we're doing a medical test and there is the chance that a medical problem can come up and, you know, I think maybe let's just like address it or talk about it a little bit, like, you know, chances are that it won't, but you know, this is more than just like a fun, I don't know. It's just hard because it's like you know, having a baby is such an exciting time for couples, especially if they're struggled with fertility, and I don't want to sort of poo them or be like the negative Nelly in the consult.
Lauren Giannetti Sferrazza:No, no, no, no, you're not. That's our job. That is our job is to be patient advocates, right? You're not going to tell them, no, you can't do this. For that reason, you're going to say this is great that you're doing this and also, what's great about this test is it can give you really important information about the health of your future child.
Lauren Giannetti Sferrazza:So I had that conversation so many times when I was doing preconception counseling with my fertility patients, where we had a lot of patients coming into the clinic. They wanted sex selection. That was the reason why they were coming in doing IVF and doing PGTA, because they wanted a boy or they wanted a girl or whatever. And to me I was like, oh my God, this is horrific. But you know, whatever, no judgment. But I, you know, we, we talk about listen, you're going through all of this, you're going through IVF, you're going to do the PGTA, but you don't want to do carrier screening, let's. Let's do a sanity check here for a hot minute, okay, and just keep you know, keeping it real, like saying, like I get it, like this is what you want, but let's also make sure that your baby is going to be healthy, right, that's really important too, and we can get all that information in a quick way in a way that's really non-invasive, like might as well, like it's great to know you're having a boy or a girl and you want to have a party, but you also want to have a healthy boy or a healthy girl, and so I think there's a way, especially the way that we're trained with all the psychosocial stuff, that we can sprinkle it in without it coming off as being like condescending or you know whatever.
Lauren Giannetti Sferrazza:But I I appreciate the general counselor role in that, because I don't know how how much doctors or other people that are ordering are having that real conversation. They're probably like, oh yeah, and it'll tell you about other problems, blah, blah, blah, and then that's it and they draw the blood. You know, my own experience with my OB was very again, I'm a genetic counselor. He knows I'm a genetic counselor, but I'm like I wonder what the conversation looks like for somebody just a regular patient, not a me. So it's interesting for somebody just a regular patient, not a me, so it's interesting. So I think it's important. That's our job is to say, hey, great, I am so happy to advocate for you. Let's just make sure you really understand everything that comes with this package that you want.
Lauren Giannetti Sferrazza:Or I had a lot of patients that would say I really don't want carrier screening, I'm not doing this, blah blah blah. And I would say listen, I'm not going to force you to do anything, but let's make sure it's an informed, no right, like why not? So I I think that that you can't go wrong and it's great that they're coming to you and having the conversation because, god forbid, you know you're having a, a gender reveal, and you find out kleinfelter. It's like how does you know? They give the result to the balloon person. The balloon person's like what the hell? What color balloons do I put in this thing? So it's just, you know sex chromosomes.
Matt Burgess:What?
Lauren Giannetti Sferrazza:do I do with that I've never seen this one before. So I just think there's some complexities that, um, you know, maybe maybe the labs could also do a better job of kind of advertising that a little bit in their patient collateral, their patient pieces, to say, hey, this is great, it gives you this information, but it also gives you medical grade information about your baby and things that could be happening. So, yeah, I think it's well within our realm and it's important for us to keep it real with our patients and say, okay, great, yes, but also yeah, good point.
Lauren Giannetti Sferrazza:I agree.
Matt Burgess:Yeah, now, when we think of Lauren the genetic counselor, we know or a lot of people know that you have a lot of experience in hereditary cancer, and one of the things I also wanted to talk to you about was point of care testing. Oh yeah, yeah, let's talk about that. How do you see things changing and evolving in this sort of area of clinical genetics?
Lauren Giannetti Sferrazza:Oh, I love this topic. I'm such a nerd. It just has been amazing to see this idea evolve over the past couple of years. I mean, I'm really excited that the NCCN, the National Comprehensive Cancer Network I think I said that right guidelines. Those are the guidelines that we in the US use the most to guide care and who should have genetic testing in the cancer space. You know that has opened up a lot for patients with cancer because of different treatments and we know that like, let's say, the most recent update was anybody diagnosed with colon cancer they could get genetic testing. Same thing with endometrial cancer. We used to have these kind of arbitrary age cutoffs and because of research literature we've seen throughout the years, we know that we're missing a lot of patients with hereditary cancer if we have these kind of arbitrary younger quote, unquote age cutoffs. So it's phenomenal for patients and families.
Lauren Giannetti Sferrazza:It becomes challenging for genetic counselors when we have a very limited pool and where I see us going and I've already seen this we had a great symposium on this at the CGA conference about how do we, as genetic counselors, support point of care testing. It's really hard to give up control. Support point of care testing. It's really hard to give up control. You are really excited about doing the informed consent, about getting family histories, all that fun stuff that we learned in grad school. But I push back a lot and say is that you practicing at the top of your license? No, I could have a student doing a pedigree. I could have a med tech doing a pedigree. You know some of these things. We can be more savvy and efficient. With A lot of places like Penn Medicine. They have like a triage where they have patients watching a certain video and then they can consent or not, and then the genetic counselor comes in at the end, which I think is absolutely super appropriate. I would argue positive, negative VUS. I'd love every patient to see a genetic counselor. I know that that's not sustainable, but if we pull ourselves off of the front end the pretest counseling maybe it's a little more sustainable. But I just see that we're going to have to go to this model. We're going to have to support our clinicians that are seeing these patients, getting them comfortable with doing some of the pretest counseling, especially in the cancer space.
Lauren Giannetti Sferrazza:Unfortunately, a lot of these patients are very sick and we need this information for treatments for their family members and getting it in a timely manner is huge because these treatments are becoming earlier and earlier and earlier. Like for ovarian cancer, we know if somebody fails. You know treatment. You know their maintenance therapy something like that first-line maintenance could be a PARP inhibitor that's based on their BRCA status Like that's really on their BRCA status. That's really important to know because we know these treatments work really well. So if we don't get these patients in for testing, we're depriving them of answers they really need for important treatments, and thinking about patients that are sick, they can't go to multiple appointments, or thinking of disparities in care. You have a patient that barely can make it to their appointments because they're working or whatnot, and then you're asking them to do another appointment with somebody else. So the long and the short of it is, I see, point of care testing is going to have to happen across the board in all cancer types.
Lauren Giannetti Sferrazza:We as genetic counselors within our institutions need to be supportive and partners to these clinicians, which I've already seen happening and work really really well. We're really good at teaching right, like that's what our you know when we went to grad school and we learned our pre-test conversation, that's like we got it down pat. We can teach anybody anything, and so I want us to start thinking again out of the box. We're not just educating patients, we are educating providers who then see a crap ton of patients. And so by kind of that extender they're like genetic counseling extenders they're going to be really touching a lot of patients that we wouldn't be able to see or they wouldn't come to our appointment or they no show. So I think in general we just have to get comfortable with the, with letting go and saying I trust the process, I trust this doctor, we're going to have a good relationship. If they have questions they can call me um. And making it so that it makes sense for the patient makes sense for the practice, um, see point-of-care testing models already in pancreatic, in breast, in ovarian. I haven't seen it yet in endometrial cancer, because that's a newer indication. We just had Penn Dana-Farber, penn Dana-Farber and Fox Chase present on what they're doing with their point of care testing. So this is definitely happening.
Lauren Giannetti Sferrazza:I think it becomes easier point of care testing when you don't have any genetic counselors involved. Anyway. Now it's just getting these doctors to say, hey, this is in your purview, now you got to do it. You can't just refer out, refer out, refer out because your patients 30% of them are showing up for their appointments. So it becomes interesting when you're at an institution, like in a rural area or a non-academic institution, what do you do there? How do you empower the providers to do point of care testing?
Lauren Giannetti Sferrazza:That's where I think a lot of the industry MSLs come into play to say, hey, I can support you if you have questions, if you need help reviewing a result. You're not sure what to do. I can be your phone a friend so that you feel comfortable doing this, because referring out just doesn't work. There's like a six month wait list at a lot of places. So, yeah, I am really in favor of point of care testing. I think that we just need to get comfortable with it. But it's, it's. We've been moving there. We just now. We need to move faster.
Matt Burgess:In Australia we call it mainstreaming and we're going mainstream sort of issues at the moment.
Matt Burgess:And it's funny because it shouldn't really come as no surprise that maybe as genetic counselors we do feel this you know uncomfortable feeling, as we're talking about before, like we want to sort of control the process or you know, and yes, we used to be the gatekeepers of genetic testing and yeah, not anymore. And again, like one of the one of the issues or one of the things that has enabled this to happen is, is money, like it's just so much cheaper to order the genetic test now than what it used to be. Um, yeah, one thing that really sort of surprised me as a little aussie gc moving to america was when we, you know, in families in australia, when a pathogenic mutation is identified and people are having predictive testing, the genetic counselor does a lot to confirm that mutation.
Matt Burgess:We try and get a positive control from the lab oh yeah, oh yeah you know we want a copy of someone's positive results and you know we'll contact the different genetic services, but because we have a population of less than 30 million, it is actually not that hard to do. And then when I started working for a lab in America and they're like, oh, we don't have time for that, that costs too much money. No, we don't just check for that mutation, we just do a full panel, and it's like, oh, wow, medicine is evolving and it's because it's so so much cheaper and quicker. You know, yeah, just, instead of spending those man hours like trying to do that, it's just like you know technology is the answer.
Lauren Giannetti Sferrazza:Let's just do it so do it the the back in the day. I would say when I was in grad school we were taught to do that method that that is being done outside the U? S of. Hey, do your due diligence, track down the positive, send it to the same lab that that patient you know relative was positive, blah, blah, blah. In theory it sounds great. A lot of people weren't being tested back in the day because the guidelines were so stringent. So, yeah, I had time to do it.
Lauren Giannetti Sferrazza:Now, with these all-comer indications, nobody's got time for that and also it just causes a delay in care. You know, it's almost like you have a captive audience. When you have your patient in front of you, you're like, all right, let's just get this going, let's get your blood and if you have to wait like if they have to come back or they have to get you more records the likelihood of them doing the test it just drops exponentially. And then you're on the hook as a clinician. You're like, oh crap, this person's really high risk. And I got to follow up with them every six months. Hey, did you send your kit? Are you going to do it up with them every six months? Hey, did you send your kid, are you going to do it? Forget it. Forget it. It just causes a nightmare. And yeah, it's cheap enough. Insurance will usually cover or the labs will have some sort of agreement with a very reasonable out-of-pocket cost.
Lauren Giannetti Sferrazza:So it's not that we're doing it the right way. I mean, theoretically, what you are all doing is really the best way to do it. It just it's so time consuming and people don't follow up. They're not as invested in their their care. I do find if they have cancer they're more invested versus if they don't have cancer. They're like oh yeah, whatever, it's fine, depending on the family, depending, you know. If I was seeing somebody from Manhattan Upper East Side, yeah, they would already bring their stack of records to the appointment and like have it all figured out what lab they want to go to? Like it just depends on how motivated the patient is too. But I'd say more than enough times I had patients that were just like oh yeah, I'll think about it or I'll get the record. I still haven't been tested, probably 10 years later now.
Matt Burgess:so it's, uh, definitely a different philosophy well, I think that might be a good spot to to finish up like, with that on our mind, the phrase just do it.
Lauren Giannetti Sferrazza:Just yeah, just do it.
Matt Burgess:Well, thank you so much, Lauren. I've really enjoyed catching up with you and having this really interesting conversation. I wish you all the best, having a baby tomorrow or in the next couple of days.
Lauren Giannetti Sferrazza:I would love that. Thank you.
Matt Burgess:And yeah, good luck for the future.
Lauren Giannetti Sferrazza:Thank you. Thanks so much for inviting me on.
