In this second episode of season 2 of Demystifying Genetics I chat with Chief Genetic Counselor Pilar Magoulas from Texas, USA. This is my first episode in this series where I chat with an American genetic counselor.
In this second episode of season 2 of Demystifying Genetics I chat with Chief Genetic Counselor Pilar Magoulas from Texas, USA. This is my first episode in this series where I chat with an American genetic counselor.
Matt Burgess (00:07):
Pilar Magoulas (00:55):
Great. Thank you so much for having me. I'm excited to, to be on your show.
Matt Burgess (00:59):
I'm excited too. You are my first American genetic counselor that I've had on this podcast.
Pilar Magoulas (01:04):
All right. Yeah,
Matt Burgess (01:06):
<Laugh>, I, it's kind of funny. I you know, I started this podcast I, I, couple of years ago and I don't know, like, I kind of just felt like a bit of a challenge and I just got into listening to podcasts, and then I thought, I wonder if I could do that myself. And then I started a podcast, and then I got married and I moved to the United States, and then there was a global pandemic, and then I thought I might bring this podcast back. So, yeah, it's very exciting to have you.
Pilar Magoulas (01:39):
Well, I'm, I'm honored and thrilled to be your first American genetic counselor, and congratulations on all those changes and transitions in your life. So that's really exciting, <laugh>, and can be scary at the same time.
Matt Burgess (01:51):
Thank you. Now you are a chief genetic counselor. You work in a large hospital and you oversee a lot of other genetic counselors. Can you tell me a little bit about what your, your work or your work life is like at the moment?
Pilar Magoulas (02:09):
Sure. Yeah. So I'm the chief of our division of genetic counseling. And, and this is something that was established about five or six years ago from our department chair when he took over the role of department chair. And so his idea at that time was to try to have a unified division for all of the genetic counselors at my institution. We have around 45 or so of us now. And we're, it seems like we're growing every few months. And so at that time he didn't really have a, a vision or idea of what he necessarily wanted, but I kind of took that to mean that I could kind of interpret it in my own way. And so in the past few years, we've been able to establish some some nice initiatives, I think, where we have different committees and things that really try to help and be the voice of the genetic counselors within our institution. So for us, in terms of licensure and credentialing billing, and also right now what we're working on is trying to establish some kind of promotion ladder for genetic counselors, since that's not something that we currently have within our institution.
Matt Burgess (03:19):
Uhhuh <affirmative>. Wow. So that's a lot of work. So when you, you started like, you felt like you could sort of take it on yourself to kind of maybe guide or, or set up the structure, how you thought would be most appropriate,
Pilar Magoulas (03:36):
Right. Yeah, and I think at the time before we had this formal division we were, we have a lot of different genetic counselors across all subspecialties that we didn't really have opportunities to communicate with one another or really to connect over shared interests. We were all very siloed in our own area. And so now we have an opportunity where we have monthly journal clubs. I feel like the communication is better amongst all of us where we can really reach out for feedback or mutual patients. And so I feel like it's created a much more team approach, I guess, or team effort amongst all of the genetic counselors. And so it's been very rewarding. I feel, I still feel like there's a lot of things that we can do. And so one of the other things that we've done is also have annual genetic counselor retreats where it's a great opportunity to, to present updates on what's going on in the division, what everyone is doing, and also with our genetic counseling training program.
Matt Burgess (04:37):
Oh, wow. God, that sounds like so much to be involved with. And yeah, I, I I was just thinking I would love to go on a retreat like that. Going to away with 45 other genetic counselors sounds <laugh> sounds like fun. However, we're, we've got a global pandemic at the moment, so,
Pilar Magoulas (04:54):
Right.
Matt Burgess (04:54):
Yes. I'm not sure if that's kind of logistically possible or have to put that off a li a little while.
Pilar Magoulas (05:00):
Yes. So we can do it through Zoom. So next year we'll probably do a Zoom. It's not the same, but this past year we were able for some of our genetic counselors that don't live in our city, we were able to connect them through Zoom and they were able to join as they can recognizing they all have maybe their own clinic schedules that they might not be able to stay for the whole day
Matt Burgess (05:21):
Uhhuh. Okay. And so with your, your work, I'm, I'm assuming that you work full-time?
Pilar Magoulas (05:29):
Yes, that's correct. Yes.
Matt Burgess (05:30):
And like, do you have clinical work as well?
Pilar Magoulas (05:34):
Yeah, so when I first started, my primary role was for our inpatient genetics consult service. So we have a very busy inpatient service where we see kids in multiple different hospital systems within my city. And that was my role was strictly a hundred percent clinical where I would be involved with seeing the new baby get a diagnosis of down syndrome or other chromosome abnormality or birth defects and, and counseling those families in that, that NICU setting. Over time, my role has kind of evolved, and so now I'm more on the administrative side, but I also see patients in the outpatient clinic in our general genetics clinic where we see kids referred for all sorts of indications and work closely with our attending geneticists, our fellows residents and working up the kids for, for various diagnoses. And then also involvement with our Angelman syndrome clinic and then peripherally some other subspecialty clinics like pulmonary hypertension and, and things like that. One of the things that I think has been really exciting in the past few years is other services that are non-genetics, primarily really wanting genetic counseling services. And so that's been nice to see that they recognize the need to have genetic counselors involved in their patients' care to really provide counseling and and help with test utilization and, and test selection.
Matt Burgess (07:01):
It's just such a, a lovely thing to be involved with. Like, that just makes me smile and you know, that the, there are other specialties out there that, you know, maybe I was gonna say that they jealous or maybe that's not the right
Pilar Magoulas (07:14):
Way to put it. Yes. My my hope is to like have genetic counselors in every different clinic, whether or not they realize they need it or not. That's my, that I would love that.
Matt Burgess (07:22):
Which is sort of infiltrate into every area of medicine. Yes. Yeah, that's right. And so before so it's so funny, like we talk about before COVID and after Covid, but yeah, like before Covid, like how much of your outpatient work was using telemedicine?
Pilar Magoulas (07:42):
Yeah, so essentially none. So really we were all in person genetics clinic visits. I think for pediatrics it's really important the physical exam is very de we really depend on the physical exam in order to determine what kind of testing we want or to determine what conditions might be in our differential diagnosis. And so we really rely on that. But once we had to convert to telemedicine, we didn't really have a choice. We found creative ways to still get patients to, we had parents sending us photos of their kids. We would ask them to send us full body images, a profile, their face, hands, fingers behind their ears. And so parents were really good about utilizing the technology and really helping us. And it's made it a much easier transition than I thought initially, and I hope it's something that we can continue because we have now a much greater reach for families in our state that otherwise wouldn't have had access to genetic services.
Matt Burgess (08:45):
And I think, you know, that sort of dysmorphology consult where the mm-hmm. <Affirmative>, the geneticist has a really good look at the child you know, sometimes think that can sort of surprise parents, you know, like maybe the parents weren't expecting them to have such a, a detailed kind of examination of their child. Whereas if I'm guessing if you are asking the parents to take these photos, you probably would frame it in a way, like you sort of explain why it's important and that may help with the process a little bit.
Pilar Magoulas (09:18):
Yeah, mm-hmm. <Affirmative>, definitely, I think, you know, we have been calling parents about a day or two before clinic to gather some of that additional intake, the medical history, getting the family history. And in that time, based on the indication, we can let families know what to expect for their telemedicine visit and letting 'em know that why photos are helpful. We recently gave a, a webinar on telemedicine in the genetics clinic that kind of highlighted the importance of, of the photos particularly if the video quality isn't great or if the child, you know is kind of moving around and it's hard to get a good, good sense of some of their, their physical features.
Matt Burgess (09:55):
Mm. Mm that's great. You mentioned that you know, as chief genetic counselor, you know, one of the things that you wanted to implement was having like a a, a method for promotion or like sort of career development. You know, one thing I, I'm sort of conscious of now that I'm living in the United States is that you guys have had genetic counselors for much longer than we have back in Australia. But is do you think that that's an important thing for genetic counselors to kind of have a way to sort of move up if they wanna stay clinical or like, do you need to go into admin or like sort of more administration Yeah. Or management or, or that sort of thing?
Pilar Magoulas (10:43):
Right. And so I, I think it is important regardless of whether the genetic counselor is in a clinical role or research or more administrative because I think it helps to know that they're working towards something. And also that their work is being recognized and appreciated and all of the thi all of the effort that they're putting in that people don't typically see is getting recognized in some way. And, and one of the ways is by promotions and raises. And from what I've looked at, there's only a few institutions where there are some sort of guidelines for a structure for promoting genetic counselors. They talk about a promotion ladder, but also a lattice where you might be able to move up ladder or move up the rungs of a ladder. But even if you're not able to move up a full level, you can still have increased responsibilities across your current level, I guess, or your current rung mm-hmm.
(11:37):
<Affirmative>. And so I think this is something that is going to be important. I think it helps also with a ration or just the professional happiness and, and just one of the, the big things that our department chair talks about is, you know, we want to recruit the stars and, but I think, you know, it's one thing to recruit all these star genetic counselors, but we also need to keep them and retain them. And one way that we can do that is by recognizing what they contribute to the field, whether it is in a clinical setting or research or academic setting. And so that's what I'm hoping to do. We need to get, you know, HR on board. But I think I've had those initial discussions and they seem receptive to it at least. Okay. and also needs to be within the confines of our institution and, and those guidelines, one of the challenges is that some institutions might not provide faculty status to genetic counselors if they're not affiliated with the university or college. And so that's something where that might not even be an option for, for some genetic counselors to, to get faculty status.
Matt Burgess (12:45):
Yeah. Can you tell me a little bit more about that? Like that you know, sort of I, I've been in the states for a little over a year now, and I've been working as a lab genetic counselor for about nearly nine months now. But mm-hmm. <Affirmative> something that's quite different. I get the impression in Australia, having that connection to faculty isn't as common. I mean, it, it, it still happens, but it, it's not as common and it seems like it's much more common here and it's sort of more important. But could you just explain it to me? Cuz I feel like I still don't understand it
Pilar Magoulas (13:19):
Very well. Yeah. And I probably don't, I probably can't explain it too well, but I think you know, I think it's something that, that there does come sort of a status or a certain level, I think of respect that comes with having a faculty position. Certainly there's difference in, in benefits and things like that if, if someone is staff versus a faculty level. And so that's one of the incentives I guess. But also I think just the recognition of the services and the contributions that those genetic counselors make. And so from my understanding, if there's different genetic counselors, so if they're just affiliated with a children's hospital that might not be associated with a university, they might be a genetic counselor, 1, 2, 3, and four mm-hmm. <Affirmative>, and that might be their designation. Whereas if they're affiliated with an institution, they might start out as a, a GC one or two and then get promoted to instructor and then eventually to assistant professor, associate professor typically in a non-tenure track. But that would be the progression. And so that's what we're trying to develop is, you know, all of our genetic counselors that are new grads come in at a, as a gc, one or two, which is non-faculty. And then we have some loose guidelines in place for when we think that a genetic counselor is ready to be promoted. You know, things such as being involved with teaching publications, submitting abstracts, having some scholarly activity that might help them.
Matt Burgess (14:49):
Oh, excellent. Okay. Well, I like, thank you. That was a good explanation. That kind of makes a bit more sense now. And to forget a little bit more controversial you mentioned this word a little bit ago but licensure and I think in your state of Texas, you don't need to be licensed, but in some states in the United States, you do need to be licensed. Can you tell me a little bit more about that and how that works?
Pilar Magoulas (15:21):
Sure. So right now in Texas, we, we don't have licensure. It's not that we don't need it. And I think it's something that we've been working hard to, to get for many years and many legislative cycles in Texas, the, the legislative session only meets every other year. And so there have been many bills that have been submitted to try to get genetic counselors licensed with licensure. It is regulatory. And so I think Texas has historically been a little bit anti-regulatory, but if we were to have licensure, then that means we can be recognized and bill for the services that we provide. There are some genetic counselors in Texas that are able to bill for their services, but most of our institutions, or at least the ones that I work at, they require licensure and credentialing in order to actually bill for services.
(16:17):
And so, for example, if I were to see a baby in the hospital and provide genetic counseling about a new diagnosis, spend an hour with them, that's essentially a service that I'm providing for free mm-hmm. <Affirmative>, unless a physician sees that family as well, and then they can bill for their time. And so that's been a, that's been a huge issue for all of us in Texas and something that we have a Texas Society of Genetic Counselors that has been working very hard hired a lobbyist and to try to get licensure for genetic counselors in Texas so that we are able to be able to bill for the services that we provide, like any other, any other service provider. Hmm. So it has been frustrating <laugh>.
Matt Burgess (16:59):
Yeah. And is it, is it a political thing? Like does it matter like if it's a Republican or a Democrat sort of LED state, or does that not really come into it or
Pilar Magoulas (17:12):
You would think I, I mean there are certainly more what I would consider conservative states that have licensure. And so Utah, for example is fairly conservative and they were one of the first states, if not the first to get licensure for genetic counselors. And so I think it's a combination of that and then probably just the, the local government. And so I think that's been some of the challenges, just getting other groups on board as to why this is important. And so we usually try to get families and patients who have been positively impacted by genetic counseling and also negatively impacted by either lack of genetic counseling or lack of appropriate counseling regarding genetic test results to testify on behalf of the importance of, of having licensure for genetic counselors to be able to provide counseling for, for abnormal results or, or test selection and things like that.
Matt Burgess (18:05):
Okay. And when one state gets licensure, like are you able, like are they able to help the other states sort of achieve the same thing? Or is it a really sort of independent separate kind of process?
Pilar Magoulas (18:20):
It is usually independent. They're able to share their bill that they had approved, and all states have different wording that might be in their bill. Some might be more restrictive in terms of what they're able to discuss with prenatal patients. For example, things like termination. And so there are some bills that are much more strict, and so licensure in that state is, that's a good thing, but you also might be confined with whatever's in how that bill is written mm-hmm. <Affirmative>. And so states can share their bills, but ultimately the state will write their own based on what they think is appropriate for their, their patient population and then, and then go forth that way.
Matt Burgess (19:02):
Wow. Okay. And so you were talking about Utah, and I think that you've spent some time there, like yes. Was that where your first genetic counseling role was?
Pilar Magoulas (19:12):
Yes. that was my first job right out of grad school at the University of Utah. And it was in pediatrics and I, I was there for three years and it was an incredible experience and I absolutely loved everyone that I worked with, the geneticists the genetic counselors. I really felt like I learned dysmorphology from those geneticists like John Opitz and John Carey and David sco. And, and it's something that I've, I've carried with me throughout all my years.
Matt Burgess (19:43):
Wow. Yeah. I, I think that learning from the geneticist that we work with, like you know, I think at the time I was like, why am I just sitting here like, you know, writing down head measurements or you know, stuff like that. But looking back at it, I, I, I can appreciate how much I did learn by sort of sitting in those consultations.
Pilar Magoulas (20:06):
Yeah. And I think there, what attracted me to that position and what I was looking for and what I looked for in when I left is a position where the genetic counselor is viewed as part of the team. Uhhuh, not necessarily a higher or lower role, but really more of a lateral just a team member where I felt that the opinions and views that I had were, were taken into account asking my impression. And that's something that was unusual to me. And it was something that was very welcome. And so I always felt that that kind of environment, I was not a scribe. I was not just sitting in the room, I was an active participant and thinking what this diagnosis could be in a child. And I think that showed a lot of respect for, for genetic counselors and what we have to offer and, and bring to the table. So it was something that I continue to look for and I continue to instill in our students when they're looking for jobs to make sure they have a sense of how they will be utilized in a clinic and what that interaction with their other colleagues is actually like.
Matt Burgess (21:11):
Mm. And, and that kind of, you know, like it touches on, on the status, you know, like what is our role? Like, you know mm-hmm. <Affirmative> we're masters educated board certified specialists, but we're, we're not, we don't have a medical degree mm-hmm. <Affirmative>. And I think, you know, going back in time, we maybe we were sort of seen as the handmaidens or, you know, like just the mm-hmm. <Affirmative>, the, the helpers that did the admin. But it's like, well, you know, although we're very good at those sort of things, you know, there, there's a lot of other things that we can bring to the table as well.
Pilar Magoulas (21:50):
Exactly. Yeah. I often describe our role with the geneticists as kind of like a Venn diagram where there's a certain skillset that the geneticists bring and a certain skillset that the genetic counselors bring, but there's a lot of overlap in the middle. But we each have our unique strengths that we bring to the table that I think compliment each other more so than you know, override each other.
Matt Burgess (22:13):
Yeah. Yeah. Now I'm working backwards now, so I think, so you're based in Texas now. You were in Utah. Utah, but then I think you went to grad school in Chicago, was it?
Pilar Magoulas (22:26):
Correct, yeah.
Matt Burgess (22:27):
But then you did undergrad in Florida?
Pilar Magoulas (22:31):
Florida, yeah. Kinda moved around, yeah.
Matt Burgess (22:34):
Yeah. And did you move away from home to go to, to university or to
Pilar Magoulas (22:40):
Grad school? So I'm, I am actually was born in New York and lived there until I was around eight or nine, and then moved to Florida and then grew up there and I went to undergrad at University of Florida. And it was there when that I first heard about genetic counseling. And when I chose to go to Northwestern in Chicago, it was I was really deciding between two schools, but I felt that was the best fit for me and I wanted to go somewhere that was outside of my comfort zone a little bit since I knew it was only gonna be for two years. I thought I could handle anything for two years <laugh>. And so that's why, that's why I chose Chicago and I absolutely loved it. It was one of the best experiences just being in, in the city. And, and then the, you know, the bonding with your, your classmates and making lifelong friends. And so, and then, then after that, I, I knew I wanted to move wherever I found the best job. I didn't care where it was but it needed to be the right position where I felt respected as a genetic counselor that they had good relationship with a geneticist and that's where that's why I went to, to Utah.
Matt Burgess (23:46):
Oh, wow. And cause we're sort of the same age and we're doing the same things at the same time. But I guess because I was you know, in Australia when I graduated there were hardly any genetic counseling jobs at all. And I kind of thought, this is the profession I wanna be in. I will take any job anywhere just to get my foot in the door. And my first genetic counseling job was in a tiny little town, you know, I didn't even know where it was before I started there. And it was not the place where I ever thought I would work, but mm-hmm. <Affirmative> back then, for you, were there a lot of choice with where you could get a job? Or was it sort of the same sort of thing?
Pilar Magoulas (24:33):
Yeah, that's, that's interesting. And, and I think at that time I knew I wanted pediatrics, but I didn't, again, care about location as long as it was the right pediatric position. And so I remember meeting the supervisor supervising genetic counselor during the, the National Society of Genetic Counselor Conference the November before graduation at Northwestern. The graduation is a little earlier in March. And so I met her in November and had set up an interview in February. And so I believe most of our classmates did have jobs before graduation. And so I don't, I don't think it was a problem. I think it was more so a problem for those that wanted to stay in a, a specific city and finding a job. But if, if you were open to moving around, I think there were a lot of opportunities. And it seems like there's many, many more jobs now available for genetic counselors and they kind of have their, their pick of the litter with depending on what they wanna do.
Matt Burgess (25:29):
Yeah, I was gonna ask about that. Like, it really seems like now, you know, for every graduate that that graduates, there's probably like 10 different jobs that they could Yeah. Choose from. So it is kind of like that, that balance has definitely changed and yeah. Yeah, I, I think that's such an interesting thing, I suppose.
Pilar Magoulas (25:52):
How did you like that experience of going to a small town and, and taking that, that, that first job of yours, is that something that, looking back you would've, you were happy about that? Or would you have wanted to wait a little bit longer to find maybe something that better suited your interests?
Matt Burgess (26:07):
Looking back at it now, I think I loved it. Like I'm a city boy. I, I always wanted to live in the city but to be like an outreach genetic counselor, like I was based in a community health center. In a country town so I didn't have another genetic counselor or clinical geneticist for like a hundred miles basically. And I think I learned so much, like whenever the phone rang, it could be anything. It could have been prenatal, it could have been cardiac, it could have been cancer.
Pilar Magoulas (26:42):
Like, that's kind of nice though, cuz then you, I mean, you never know what you're gonna get and you have to be the expert in, in all of those little, all of those areas. You have to know a little bit of something, of everything.
Matt Burgess (26:51):
That's it. And I think, you know, like looking back now, I think I was a little, I don't know, arrogant, maybe too strong a negative word, but like, I was so like pumped and ready, it was like, okay, I've graduated. I, I'm ready to, to get into my job. Right. And then I think looking back, it's like, oh my God, there was so much I didn't know, but I didn't appreciate that at the time. Right. But no, it, it, it was definitely good. You know, I learned a lot and it was good having that exposure to, to different areas.
Pilar Magoulas (27:23):
Oh, great.
Matt Burgess (27:24):
Yeah. And so I know you are sort of involved with many different areas of genetic counseling, and we've covered quite a few. But one thing that I would love to ask you about is your work with the support groups. Like I know that you're sort of involved with the advocacy and I was just wondering if you could tell me a bit more about that.
Pilar Magoulas (27:45):
Yes. I mean, and that's definitely one of my biggest passions. I absolutely love working with the support organizations and, and I, meeting the families, going to the conferences. And it actually started in grad school during one of my rotations where I happened to see a patient that had a diagnosis of possible C F C syndrome, which is cardio cutaneous syndrome. And at that time, there were no genes known or identified as causative of C F C. And I happened to choose that syndrome to present to my classmates. And when I graduated from the program and went to Utah, one of the first few patients I saw probably within three weeks was a little boy who was referred for a possible epidermal dysplasia, different type of condition. And in, I happened to see him with Dr. Dr Susan Lewin, who is the wife of Dr.
(28:41):
John Opitz, who happened to be the geneticist that originally described CFC Uhhuh syndrome back in the eighties. And at that time, we both saw this little boy and thought that he had FFC syndrome. And I told her at that time, you know, I was new, new grad. I was like, I think he has cfc, I have no idea what I'm talking about, but she thought he did too. And so we ended up giving him a clinical diagnosis and, and kind of fast forward I ended up telling her, I, you know, oh, I did a presentation on cfc. I wrote this big manuscript, and she told her husband Dr. Oppis, who was going to the first ever CFC conference, and he asked to bring my slides to that conference. And from then on he presented my slides and the president of the organization reached out to me and asked if I would help with just writing some, like little educational materials, like question and answer back sheets.
(29:36):
And I was very overjoyed and ecstatic. And, and that sort of started my relationship with that organization. And that was in, in 2003. And in 2006, they asked me to be on their board of directors, and that was their first non-parent board member. And I think I started like crying probably. And I was like, of course. Like I felt like they had adopted me as one of their own. And I've been to every conference since then. And, and what I love about it is just getting to see the families year over year, hear their stories, be a part of their, their lives and, and see how we can take whatever we learn from these conferences and really apply it to our other families and, and patients. And it's been one of the most rewarding experiences that I've had. And and then slowly from that it kind of merged into other conditions and, and syndromes that are related to cfc, like noonan syndrome and Costello Syndrome and, and then the Racies as a whole, which, which those conditions are part of. And so it's really been something that has changed my career for the, for the better and really changed me personally as well. My kids go to the conferences, they know CFC syndrome, they interact, they go to the dances. And so it's, it's been something that I've, I've, I've really valued and, and treasured.
Matt Burgess (31:00):
Oh, that's lovely. Sorry,
Pilar Magoulas (31:01):
That was long-winded.
Matt Burgess (31:03):
<Laugh>. No, I love long-winded answers. <Laugh>. Oh, how do your kids sort of explain what their mom does?
Pilar Magoulas (31:10):
So that's, yeah, we actually, I had to, we, for our Genetic Counselor Awareness Day a couple years ago one of the, we did these different like a scavenger hunt where we had to ask people, what do you know? What does a genetic counselor do? So I interviewed my kids and they were, I think like eight and six at the time, Uhhuh <affirmative>. And my son said, you know, oh, she talks to people on the phone, she tells 'em what syndrome they have. And I was like, yeah, I mean, he's not wrong. And then my daughter was able to explain it a little bit better. She knows a little bit more about genetics. She's 12 now and it's something that she had looked into, into going into, but she knows that I work with kids that have differences. And then I counsel them and sometimes I have to give difficult news. But they, I think they have a, a loose understanding of what I do. They've been seeing it more now that I've been working from home Yeah. For the past four months. And so they actually can see a little bit of what I do in terms of just the, the non-counseling part, but just the day-to-day work stuff.
Matt Burgess (32:14):
Yeah. Oh, that's cool. That they sound really cute. <Laugh>. And there's a couple of questions I wanna ask. I don't know which one to ask first, but I guess working from home and having the kids there and doing this sensitive job, like, have you, have you found that it's been a struggle or is it tough to kind of you know, work under these conditions?
Pilar Magoulas (32:39):
Yeah, I think it's definitely, in the beginning it was much more of a challenge because there was so much uncertainty and you didn't really know when the end is. And I still think we don't know when the end is going to be, but at least we've adjusted to this new normal. And also they were adjusting to being outta school and doing remote learning for their, their spring semester. And so I think March through May was probably the most challenging, just a lot of transition and, and change. I think now we've gotten into a routine and I, they know when I go into the office I'm working or they know if I'm on a Zoom call they'll ask me if I'm on mute if they have to ask me something. And so it's, it's kind of incredible how we can just adapt quickly to these, these new changes.
(33:21):
But it is, it is tough still because it's hard to have sometimes have that separation of when you're home versus when you're at work, when you're at home all day. And so I sometimes need that physical separation of going into the office and closing the doors versus coming out and, you know, starting on dinner or something like that. And so I try to have clear times when I'm working and clear times when I'm not, so that, that they don't fuse together as much. And so that I can have a good stomp point cuz otherwise it can just continue on and you can just continue to work through the night.
Matt Burgess (33:53):
Yeah. So, oh, I, I might just double, double check that PowerPoint presentation or I'll check my email right? Or Right. Yes. Yeah, it's easy to do <laugh>. Yeah, for sure. Going back a little bit, so thanks for kind of telling me about your experience in the support groups. And you, you mentioned that you were offered a position as a one of the bo on the board of directors. What does it mean to be on the board of directors for a support group?
Pilar Magoulas (34:25):
Well I think for, for me, it, it means, at least for this, this organization, it is a pretty rare syndrome. And so about one in 800,000 there's maybe 500 or so kids or individuals worldwide probably more so now that have cfc. And so for this organization, it's fairly small. So it really meant to me what is the, what is this organization trying to do Initially before the genes were discovered, they were trying to identify the genes. And so they would do research studies and have a biobank and really work with geneticists to try to identify the genes associated with the condition. Now that we've had the condition, the focus has somewhat shifted to what are our next goals, what are the next steps? And, and right now it's in terms of research. And so being on the board, it's really nice to kind of help figure out what the organization wants to focus on, what they wanna do, what are their goals.
(35:22):
We actually, were are having a strategic planning meeting this weekend to discuss that and, and looking at, you know, the five year plan and looking back at the last strategic plan did we accomplish what we set out to do? Mm-Hmm. <affirmative>, right now, the focus has been on, on seizures and, and research looking at the types of seizures that the kids have. But I think it's, it's something that's been nice because from a, as a genetic counselor, I can bring some perspective from the genetics standpoint and, and diagnosis and testing and questions that families have. The, also another focus right now has been on prenatal diagnosis, uhhuh, and how can we support families who are making decisions about a pregnancy that is diagnosed with C F C, since that's something that has come up in the past few years that were getting a lot more prenatal diagnoses and, and I think it's a very sensitive topic for our parents mm-hmm. <Affirmative>. And, and so we are gonna be having a call about that also this weekend to see how we can support these parents that are making decisions without you know, maybe hurting our, our families that have that are already here. That kind of thing.
Matt Burgess (36:34):
Wow. And Cause I, I just think that you would bring so much benefit to being in a position like that, but I guess when you're at university or grad school you probably didn't think that that would be part of what you would do as a genetic counselor, or
Pilar Magoulas (36:51):
No. Yeah, definitely not something I ever envisioned, but the more I do it, the more I realize where I, I can see the, the role of genetic counselors in these sorts of advocacy organizations. One of our genetic counselors that I work with, I, I think she's the president of or at least was, she was on the board and she might even be the president now of like the Children's c Craniofacial Association. And so I think it, it's, it's nice that some of the advocacy organizations are embracing the genetic counselors and that we're having a role to really help educate the families and to help drive what their mission and their goals are as an organization. Mm.
Matt Burgess (37:28):
And that kind of brings me, or like, as you were saying that I was thinking about genetic counselor education. I know that you're involved with at least one, if not two, of the, the local genetic counseling schools near you. I think that the courses are fantastic, like it's a two year course, and there's a lot of information in there and graduates have these beautiful skills. But do you think that we are trying to cram too much in, or do you think that we should try and cover everything or like should genetic counselors maybe pick elective, you know, like sort of specialize or what are your thoughts there?
Pilar Magoulas (38:15):
That's a great question. I, I was thinking that exactly. I and the course director, Koch course director for our medical genetics one and two course for our graduate students. And it's so hard and it's just one year where they have to learn everything about medical genetics. And there are so many topics that we can't cover because we don't have the time. And I struggle with what are the pertinent topics that we need to cover the most common things, but also trying to arm them with how do you look up other things that there's no way we can cover everything mm-hmm. <Affirmative>. and especially I think in today's age where there's so many different areas of genetic counseling industry and research and lab and you know, direct to consumer testing and teleco, you know, tele genetic counseling, that it's so hard to pack it into two years where they also have to see patients and they have to do a thesis.
(39:09):
I like the idea of having maybe different tracks or maybe what we have at our institution is we have a third year research option. So if there were genetic counselors that were particularly interested in research, they can stay on a third year to focus on that. Um-Huh. <affirmative>. But we, we, we do have elective rotations that's in their second year, but not necessarily in elective track for didactic coursework. But that's something I think would be really interesting, particularly if they wanted more deeper dive into, you know, cardiac genetics or neurologic genetics or immunogenetics. Because right now we, we just don't have the time to, to cover everything that I, I think is interesting and important. Yeah. But I think at least arming them with, you know, the tools that they need to look things up or to know where they need to go and to recognize, you know, the resources that are available to them.
(40:02):
But there's, yeah. So much to cover now compared to like, probably when, you know, when we were in grad school, I, you know, CMA microarray was just coming out, I know <laugh>, so I learned about that. But, but like exome and all, like everything now, it's just, there's so much and there's other opportunities for lectures here and there. But it's still two years is a relatively short amount of time to try to cover all of that, considering most of their didactic coursework in genetics is just year one. Yeah. And they're already like overwhelmed. And like,
Matt Burgess (40:31):
It, it's funny because I when, when you were saying that I, I was reminded of when I was in undergrad, I remember in my genetics course they kind of mentioned imprinting. And I, I remember thinking at the time, okay, well I'm, I wanna be a genetic counselor. I'm sure I'll learn all about imprinting, so I'll, I'll keep that in the back of my mind. And then in my grad school, I think we spoke like we had one lecture on it. And it wasn't until, you know, it's kind of like, okay, I'm a a fully trained genetic counselor and I've had a one hour lecture on one hour. You know? Yes. You have to learn that on the job and <laugh>.
Pilar Magoulas (41:12):
Right, right. There's so much. Yeah.
Matt Burgess (41:15):
It's funny. Yeah. So other things that you're involved with, like, I know like you are like this fabulous genetic counselor with like fingers in multiple different genetics pies. But one of the things that I saw that you are also involved in is manuscript reviewing or like being involved with literature and different journal articles. And I see that you are a co-author of many different articles. Just wondering if you can tell me a bit about that.
Pilar Magoulas (41:46):
Yeah, I think that's something that I really got into probably several years ago. I was working with one of our fellows probably back in 2012. It was, it was some time ago. And I remember he had, this fellow had showed me this article that they had written, he and the geneticist, and it was one of my patients. And I was kind of felt I was like, oh, I was involved with that patient a lot. Like I called him, I disclosed the results. I did a lot, like I felt like I had, but I wasn't included in the paper. And I said something to that effect like, oh, that would've been nice to be included. And he, the fellow at the time felt like, oh, I didn't even think, you know, think to ask and if you wanna be involved. And from that point on, he asked me about like, everything.
(42:30):
And so we did several papers together. Um-Huh <affirmative>. And I think it's something that's really rewarding where you have the opportunity to you know, either write case reports or about a particular condition and contribute to the, to the scientific literature. It's, it's tough and I think it takes a certain time commitment. It's definitely something you're doing after hours and on nights and weekends just given your other responsibilities during the day. But I think it's something that, at least for our genetic counselors, I think it shows sort of that academic mission, which is important to our, our department chair and sort of those scholarly activities. And also chances to write, you know, book chapters. As I've been more involved with the racies, like Newnan and cfc, I have been asked to review manuscripts as well for certain journals mm-hmm.
(43:22):
<Affirmative>. And so that also took some, some practice and I would get help and advice from fellows and my attendings and other genetic counselors that have done that just to see, you know, how do I word this? Or sometimes I feel like I'm too nitpicky about editing. But it's, it's also really rewarding that you ha you, you know, you kind of get this insider look at these, this research before it actually is published and you have a say in how that information is disseminated. Yeah. and how they can maybe tweak it a little bit more to make it better. And then I, I had the opportunity to be involved a couple of years ago, the American college or American Journal of Medical Genetics was putting out a special issue on genetic counseling in the era of precision medicine, Uhhuh.
(44:09):
And Dr. John Kerry, who is an editor had asked myself and Karen Denton, another genetic counselor, and, and Dr. Michael Baha, a geneticist to be the, the editors of that journal where we had to really do everything from the ground up. We had to think of topics, we had to reach out to authors to see if they would be interested in writing an article on a particular topic. We were involved with all of the editing of every manuscript writing the intro. And that was so much work, but it was incredible. And I, I loved being part of that, that special issue cuz I really felt like it was a stamp of just different areas of genetic counseling. We really tried to cover, you know, from telemedicine and different modes of genetic counseling to research in genetic counseling, to the clinical role, to the lab role and to, you know, educating future genetic counselors.
(45:01):
So I feel like it really covered everything. So it's been I like that. I wish I had time to do more of it, but it, it does take time to just, I feel like it's easier to edit than it is to write, but once you get get it going, then I can always like, you know, red pen things. And but sitting down to write it takes time, but it's, it's, it's much more rewarding when you can see your name on something and you're like, oh, I did that and I, I'm proud of that.
Matt Burgess (45:26):
Well done. Like, I think, you know, like writing is so hard and, you know, it's time consuming and it, it's not a straightforward process, you know, there's sort of backwards and forwards and you, you get feedback and you get notes from the editor. And maybe I'm a little bit biased, but I, I'm thinking that getting some feedback from a genetic counselor is probably I was gonna say more thoughtful and maybe I'm not being you know, maybe that's not <laugh>. That's fair. But you know, it's probably nice to get in some of that from a genetic counselor than from other professions maybe.
Pilar Magoulas (46:04):
Yeah, I remember I saw, I just reviewed an article I think like two weeks ago, and you have the, when the editor sends you the comments back, you can see the other reviewer's comments as well. And the, the other like, reviewer number two, I think I was reviewer number one. I have like, you know, paragraphs and then I have bulleted lists and like, page number, this page number, this change, this. And the other reviewer, it was like two paragraphs and I'm like, where's their bulleted list of things? And so you can, I was like, ok. I'm like, maybe I shouldn't have done bulleted lists. So, but
Matt Burgess (46:38):
That's crazy. Like, you know, like, I, I don't understand how you have all this time, like time management. I
Pilar Magoulas (46:43):
Don't <laugh>
Matt Burgess (46:44):
<Laugh>. Well, speaking of time, I should let you go. It's been wonderful having you as a guest, but I guess my last question is what do you love about your job?
Pilar Magoulas (46:59):
Oh, there's so much. Right now there's so much. Some days I'm like, I don't know. But I, I love the opportunity. For me it's, it's about the families and being able to have some impact in their lives. Oftentimes we are giving difficult news. We don't often give a lot of good news, at least in our, our setting. And so I think being able to, to provide some sense of hope in some of these family's darkest times. That's one of the things that I love most about genetic counseling. And one of the things that I think keeps me going is just the ability to continue to learn. We never know it all. And I love that about genetics, that it's something that's continuously evolving and you really have to stay on top of it and you never, you never get bored. So those are, those are the main things that I love is just the, the family dynamics getting to work with, with parents usually in some of their darker times. And, and then just the, the continuous love of learning that we can get in genetics.
Matt Burgess (47:56):
What a beautiful answer. Thank you so much for being a guest on Demystifying Genetics. I really enjoyed our time together and I should let you go and yeah. Thank you.
Pilar Magoulas (48:10):
Thank you so much, Matt. I really appreciate it. It was so great to talk to you.
Matt Burgess (48:14):
Excellent. Okay, thanks. Bye-Bye.
Pilar Magoulas (48:16):
Okay, thanks. Take care.