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With a very limited number of genetic counselors nationwide, it’s impossible for every fertility patient to see one. Clinics like RMA New York are getting strategic.
In this week’s episode of Inside Reproductive Health, genetic counselor Teresa Cacchione explains why genetic counseling in IVF is becoming increasingly critical and complex.
Teresa discusses:
Why and how RMA-NY relies on a partner called GeneScreen
Why even low-risk carrier results can confuse patients (and what to do about it)
The growing demand for informed consent around PGT
The risks of relying solely on lab panels
How RMA decides which patients need in-house counseling
The legal and ethical implications of not providing sufficient counseling before treatment
Even the Best Clinical Teams Need Expert Genetic Support
57% of Fertility Patients Had Missed Risks. 42% Changed Clinical Care.
Modern fertility care demands systems that keep pace with genetic complexity - without losing the human connection.
57% of patients had missed genetic risks in routine screenings.
42% of those had significant findings that changed clinical care.
Inconsistent counseling = legal exposure, care gaps, and lost trust.
GeneScreen delivers concierge-level, comprehensive genetic counseling that integrates with your team - scalable, accurate, and patient-centered.
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Teresa Cacchione (00:03)
a lot of practices are seeing more and more the benefits that genetic counselors can bring to their practice. is it possible for every patient to meet with a genetic counselor at this point? Probably not, no, there aren't enough genetic counselors in the country for that to happen. We're kind of still a niche profession. There are only a couple thousand of us in the whole country for all different specialties,
Griffin Jones (00:33)
With a very limited number of genetic counselors nationwide, it's impossible for every fertility patient to be able to see one. So clinics like RMA New York are getting strategic. In this episode, genetic counselor, Teresa Cacchione explains why genetic counseling in IVF is becoming critical and increasingly complex. She shares RMA New York's strategy of using in-house counselors for certain high-risk complex cases and then outsourcing other cases to a firm called GeneScreen. Teresa praises GeneScreen for their depth reliability and ability to handle nuanced discussions, freeing up doctors and nurses while reducing liability. She also emphasizes that even low risk carrier results can be confusing and patients need support understanding what those findings mean for themselves and their future children.
She highlights the growing demand for informed consent of all of what's happened in the last year or so around PGT, the risks of relying solely on lab panels on the carrier screening side because it's getting more complex on the PGT side and the carrier screening side and why some labs might have this on their panel and some labs might have that on their panel and why more comprehensive genetic counseling. is often necessary beyond just the results of that lab's particular panel, and how you integrate these genetic counselors whether they're in-house, in-house, or feel in-house like GeneScreen into clinical teams so they're not just patient-facing educators, but they are key collaborators in patient care alongside the REIs. Enjoy.
Griffin Jones (02:35)
Miss Cacchione, Teresa, welcome to the Inside Reproductive Health podcast.
Teresa Cacchione (02:40)
Thank you for having me.
Griffin Jones (02:42)
Are there enough genetic counselors for the demand that we see in IVF in America?
Teresa Cacchione (02:46)
That's a great question. I think it depends on your practice model. There's a lot of different ways of approaching this. I think that a lot of practices are seeing more and more the benefits that genetic counselors can bring to their practice. If you're asking, is it possible for every patient to meet with a genetic counselor at this point? Probably not, no, there aren't enough genetic counselors in the country for that to happen. We're kind of still a niche profession. There are only a couple thousand of us in the whole country for all different specialties, right? I do think that we are getting more more creative right now in terms of different models to help make sure that patients have access to genetic counseling services in some form that sort of.
strategizing and stratifying different ⁓ consult indications and different needs to, you some people might meet with a genetic counselor, you know, like myself and have a very kind of classic formal genetic counseling consult that is a full hour long and we're going over family history and we're talking about decision making, whereas some people might have a 15 minute call with a counselor on the phone and just briefly review their results so they have a better understanding. And as things move forward, especially who knows what's going to happen, I think in the world of AI, we may have situations in the future where people are using AI bots to kind of explain very straightforward results, right? So I think that, and all of these different things, I think take different investment from, you know, fertility networks and fertility clinics. So short answer, probably not. Long answer is depends on which type of genetic indication we're talking about and how your practice wants to approach it.
Griffin Jones (04:24)
So there's definitely not enough genetic counselors if every patient was going to meet with one, there wouldn't be enough to meet that demand. Is there enough to meet those that should be seeing a genetic counselor? And tell me what your view on that is. What percentage of patients in your view should be seeing a genetic counselor? Where do you think that might be underserved in the field writ large? And are there enough in-house genetic counselors to meet that demand.
Teresa Cacchione (04:58)
Yeah, increasingly, yes. I think eight years ago, 10 years ago when I first came back into the field as a genetic counselor, it was not very common to have in-house genetic counselors. A lot of clinics were still referring patients out to either third-party genetic counseling services, which still exist and are, think, as we can talk about if you like, think are very complimentary with in-house genetic counselors in a lot of ways.
or we're referring out to sort of major hospital genetic counseling practice, prenatal genetic counseling and sort of things of that nature. As we've started to come more, it's become more and more common for genetic counselors to be in-house, we're kind of seeing a lot of practices start to break it down in a particular way. And I'm seeing this model kind of be, which is the way I created it at our practice. And I've kind of seeing this be replicated in a lot of ways where
the in-house genetic counselors will often see the people that come back on their genetic testing as high risk with complex results, who have very clear risks for the next generation, who have very concerning family histories. So the patients will a lot of the time sort of have screening questions with the physician and their nurses originally, initially they'll undergo some basic screening. They may even test their embryos and have very confusing results and then get referred to the in-house genetic counselor.
if they meet sort of a sort of guideline of high risk indications. And then patients who are lower risk, but maybe still might want to sort of have some additional discussion about what their results mean, you know, will be less likely to speak to the in-house genetic counselor, just because there is often a much higher volume of those patients, and may be more likely to either talk to a nurse or their doctor who frequently will honestly come to the in-house genetic counselor if there's something they're not certain about or
I know that me and my colleague in our practice will train all our nurses how to interpret carrier screening and genetic results so they can be having those low risk discussions with the patients. Or, you know, and this is where I think in-house genetic counselors are very, I think, can work hand-in-hand with third party services is that a lot of clinics will use third party genetic counseling service to handle all the low risk calls, right? So people who do want to have more of a discussion but maybe don't necessarily need
the coordination of care and kind of in-house expertise that a genetic counselor working within the clinic can provide.
Griffin Jones (07:22)
So tell me about that. How do you work with those third parties? Who do you use and how do you use them?
Teresa Cacchione (07:28)
Yeah, so we work with GeneScreen for all so what they'll typically do is they are partnered directly with the carrier screening company that we use so that when results are released, you know, we've have set up ahead of time a kind of algorithm of high risk versus low risk results or what falls into each category. GeneScreen will automatically reach out to our patients who are low risk to review their results with them.
And then anyone who is high risk, the physician will get an alert and refer them to me and my colleague for a formal, more in-depth genetic counseling discussion. So that's what we do for carrier screening for genetic testing results, so embryo testing results, pre-implantation genetic testing. The laboratories that we use for the testing have in-house genetic counselors that can do kind of very general overall results reviews with patients.
And patients have a lot of questions that their nurse or their doctor kind of is going beyond the amount of time they have or are asking questions that maybe they don't feel as comfortable with. If it's not a scenario or indication where it might be helpful to have internal knowledge of our clinic's policies or procedures or the patient's particular background, we'll have the genetic counselors at the laboratory sort of do a general results review in those scenarios. So we kind of partner in two different ways.
Griffin Jones (08:47)
So when you use gene screen for low risk patients, for example, how would it normally be for low risk patients? Would they normally be seeing a nurse or a doctor not be seeing a genetic counselor?
Teresa Cacchione (09:00)
In, I think in clinics or cases where they maybe aren't partnered with a service or they don't have someone in-house, it might often be the nurse or the doctor. Or there are some carrier screening companies that do have in-house genetic counselors. So that's a little bit less common now than it used to be. So it is a lot of the time now third-party services kind of jumping in to fill that gap where nurses and doctors, they're
coordinating so many other aspects of care that they may not have time to have a 20 minute sort of discussion about these results alone, especially if they're low risk, whereas genetic counselors are able to do that.
Griffin Jones (09:37)
So why did all feel that it was necessary to have GeneScreen do that as opposed to just having nurses or doctors? What is it about, I mean, they're low risk by your label. Why not just say, for the low risk folks, they can be handled by a nurse?
Teresa Cacchione (09:57)
I think that some practices do that and it certainly works. think that from a liability perspective, I think it is nice to know that someone with an expertise in that particular area is reviewing those results with the patient. Even low-risk results can sometimes be a little bit complex. Even when it's a low-risk scenario, patients often might carry multiple different genetic disorders and need to have each one explained. Often there's a lot of confusion about being a carrier versus having the disorder and ⁓
taking the time to talk the patient through the different types of genetic inheritance. And there are some scenarios that are a little bit more gray area where even though it's a low risk in terms of reproductive risk for the next generation, there could still be some things to talk about in terms of the patient's own health, right? And I think all of this just takes a lot of time that our nurses and doctors may not always have given the number of other areas of care that they're coordinating simultaneously.
Griffin Jones (10:52)
How did you choose them as opposed to another third party genetic counseling partner?
Teresa Cacchione (10:56)
So, yeah.
So, I mean, we being in the New York, New Jersey area, we've known them for a long time and have worked with them on multiple occasions in the past prior to, think, using them more routinely for our carrier screening calls. And then the carrier screening lab that we work with is partnered with them. So that sort of was a big factor in that decision. I think that different
carrier screening laboratories may have different sort of third party counseling service partnerships, right? That often plays a big role in that, in the way that is initially set up.
Griffin Jones (11:29)
I've heard from people that maybe doctors think that the genetic counseling is being done by the carrier screening lab, but that their counseling to that panel and it might be different from a different carrier screening company's panel. Can you tell me more about that?
Teresa Cacchione (11:49)
I mean, there can be variations between carrier screening panels at this point in terms of which more rare conditions are included. There are guidelines right now in terms of the more common severe genetic disorders, right? What should be on every carrier screening panel? What is sort of default that we should always be testing for? But once you're talking about more severe, more rare genetic disorders, as well as
milder conditions that may not necessarily impact reproductive risk immediately. There's a lot of variation between different laboratories on what they will report and what they will test for. So it is possible for patients to get slightly different results depending on which laboratory they've gone to or that clinic works with. And there's a lot of internal discussion. Each clinic kind of gets to decide what they feel is the most relevant panel to be offering their patient. In addition, the labs will only counsel about
that panel and those results, right? They're not gonna be talking to patients about their family history, the rest of their IVF workup, any genetics, fertility-related genetics testing they had that was kind of separate to the carrier screening. And that's where the internal GCs can kind of come in because we have access to their full chart. We're able to connect directly with our doctor and say, based on the initial workup, do you think IVF is an option for this patient? And if not, you're not gonna spend a half an hour talking about embryo testing.
So I think that that's where the internal GCs can kind of jump in and play an important role.
Griffin Jones (13:16)
Is there a risk if you don't have that? is there a risk if you're just going off the panel of the carrier screening labs and you're just seeing what's in that panel as opposed to going through the full genetic counseling history?
Teresa Cacchione (13:31)
I think that that is the yes, because the carrier screening is really only looking for recessive and X-link genetic disorders, which are a category of disorders where the patient or the partner, the intended parents, may not necessarily be showing any symptoms if they're a carrier. What you're doing there is you're assessing for risk that wouldn't be known just by learning about their personal or family medical history. Most IVF clinics, including our own, have
a pretty hefty ⁓ family history section on their intake forms where patients are asked a lot of different questions about their family history that the doctor then talks through in the initial consult. And that is where there often are sort of red flags that come up where they might be referred to a genetic counselor, not because of any testing they've done with us, but because of their family history. And depending on that, we might recommend additional testing beyond what was done, what is available on sort of the
general carrier screening that's done for everyone, and in some cases might even refer out to specialty areas of genetics if it's something that's a little bit beyond what a reproductive endocrinology practice, you know, should be ordering.
Griffin Jones (14:41)
Would the docs always know what those red flags are or are there times where that would have been caught if it weren't for a genetic counselor? Can you think of any examples if that is the case?
Teresa Cacchione (14:54)
I mean, I've certainly had cases where, you know, there are very, we've designed the questions and worked with our physicians over years to sort of make sure everyone's aware of what their red flags are. But I've definitely had cases where doctors have reached out to me and my colleague and we honestly block time every day for questions from our physicians and nurses because that's one of the reasons we're there, where they're not just to support the patient, but also the practice and the staff as well.
⁓ We definitely have cases where they reach out and say, the patient reported a history of XYZ. Do you think that's suspicious? Should we do any follow-up on this or do you think that's okay? This just came up the other day. We had a patient come in saying they had a family history of a certain disorder and the physician said, that disease is on our carrier screening panel. Let me check in with our genetic counselor to see if that's sufficient, if that would pick up that risk. I knew just because
of sort of the inner workings of this test that the baseline test that we offer actually wouldn't pick up that disease automatically because of some limitations to the technology that exists and recommended that because of her history, this patient adds some additional testing onto the panel, right? So we can, I think, add additional color because of our expertise in this particular area to a lot of the tests that are being offered.
Griffin Jones (16:09)
Would the carrier screening lab have known that?
Teresa Cacchione (16:12)
Probably later on after they talk to the patient. Yeah, so and that's the thing is I think the having the outside services are so helpful and are what a lot of clinics need to rely on because you know, I think especially smaller clinics may not always financially be able to have a genetic counselor in-house, but a lot of the times you'll get there. It just might take longer with more back and forth. I think often having someone in-house streamlines a lot of this in many ways.
Griffin Jones (16:38)
Tell me more about the types of cases that you're seeing when it's high risk and how that escalates to you.
Teresa Cacchione (16:47)
Yeah. So, you know, if a couple or patient or partner does carrier screening and they're carriers for the same disorder, right, or the female carries an X-link disorder, which are ⁓ disorders that only individuals with two X chromosomes carry, that's when they would be flagged. For us, they'd also be flagged to see us if they come in and there's an immediate concerning family history or if there's some additional fertility testing that's genetics related that might get flagged. So those patients would come to us, we would talk about
⁓ their family history first, which kind of puts all the results in context, helps us make sure there's nothing else we need to be thinking about from a genetic perspective. We would then talk about the findings from their results in depth, explain what it means, not just talk about the disorder generally, but also the particular specifics of the genetic changes they carry and how that might impact the way that disorder presents in any of their children who are going to have it.
We'll talk about what the risk numbers are. And then, and this is where I think where the counseling piece really comes more into play is then we talk through options, right? So we'll talk through, okay, now that you have this information, what can we do? You know, if you're conceiving unassisted, what are the options? If you decide to do IVF, what are the options, right? And we can really personalize that discussion. I think especially the in-house genetic counselors.
can personalize that a lot because having direct access to the results of their fertility testing, their doctor's notes, being able to just send a quick email to their doctor being saying, hey, I saw the ovarian reserve was low. Do you think IVF's even an option in this case? Can really help inform that discussion and help make sure the patient's making decisions that are right for them in their particular scenario.
Griffin Jones (18:25)
How many doctors do you all have at Army of New York? A 20?
Teresa Cacchione (18:28)
25
I think we're up to now.
Griffin Jones (18:31)
How many GCs do you have for those 25? Two. Is that enough?
Teresa Cacchione (18:34)
Two, yep.
it.
Griffin Jones (18:41)
Do you work with the US,
do you work with other GCs throughout US fertility as well, or are you mostly, it's, you're. ⁓
Teresa Cacchione (18:48)
We don't share patients, no,
because we are separate practices. So we don't share patients. But of course, we do often all talk about policies and strategy and sort of different if someone sees something, you know, unusual, hey, have you seen this before, you know, we're a resource for each other. Yes, but we don't share patients directly, right, since they are even though we're part of the same network, we are separate practices. So yes, there are two of us. ⁓ I think we have set up a workflow that makes it work, but it would always be great to have more. Yeah.
Griffin Jones (19:15)
So then hence the hence using somebody like GeneScreen and then I so I didn't know about GeneScreen until Sean Vincent, a mutual friend and then I met Jill and then and then I realized like, I think this is like an underrated little outfit here because so many people it's like all of these different doctors use them and and and really like them and and I was like, this is like one of those
⁓ folks that might be underrated and because there's so many different doctors and it's especially the doctors that are really into genetics are the ones using those folks. but I still don't know a lot about how they work. Is there like a whole team of genetic counselors and sometimes you've got this one and sometimes you've got that one or is it like
Teresa Cacchione (19:53)
Mm-hmm.
Griffin Jones (20:07)
There's three of theirs that you use all the time. How does it work?
Teresa Cacchione (20:11)
Yeah, I mean, you'd have to ask them some of the more specifics on that front. There is a whole team there. They have, I think, upwards of 30 genetic counselors, from what I remember. They do see multiple different specialties. So there are cancer genetic counselors and reproductive and prenatal. And I think they're even doing some neuro ⁓ neurology stuff now as well.
So yeah, there are different areas of specialty. They do have genetic counselors with different backgrounds, which is helpful. And I do think that they assign certain genetic counselors to certain accounts. I do often see the same names over and over again, but that also could just be because what their specialty is, right? But yeah, it has been definitely incredibly helpful because I think there are some small practices out there that I've heard of where
they're set up so that every patient sees the genetic counselor, but that would have to be a relatively small number of physicians to a very large number of genetic counselors, and that ratio is difficult to achieve. I do think it's more, I'm more and more frequently seeing the model that we're seeing now where there's kind of a high risk, risk approach.
Griffin Jones (21:12)
So are you, as the genetic counselor, dealing with high-risk patients? Are you also dealing with the genetic counselor company, like GeneScreen, for the low-risk patients? And are you sort of case managing them, or you're not interfacing with them? You're dealing with the high-risk patients, and then those patients that you've labeled low-risk, their doctors, or their nurses, or their care team is dealing with those genetic counselors.
Teresa Cacchione (21:40)
It mostly
would be the doctors and the nurses directly. ⁓ But I, you know, in my particular role being director of our sort of genetics program, I do from an operation standpoint, right? I'm in charge of the overall workflows and communications with them, making sure our relationship with them, you know, sort of over time, everything is set up the way we want it to be and is flowing properly for all the doctors and the teams. But the direct sort of case management discussion is usually between the doctor and the nurse and
Jane screen directly and they'll loop in, you myself and my colleague if it went and if needed if sometimes they do accidentally identify that, you know, someone is more high risk and maybe should talk to one of us.
Griffin Jones (22:19)
I just did an episode that was pretty popular with Matt Marucca. He's the chief legal officer of inception. And he said that lawsuits against fertility providers is on the rise. And a lot of it is plaintiffs' attorneys copying the playbook of personal injury attorneys. And here's how we go after different companies. And here's how we
Teresa Cacchione (22:26)
Mm.
Mm.
Mm-hmm.
Griffin Jones (22:44)
your terror, if they don't have a B or C, then we're going to be able to make a case for this and and get these kind of claims and these kind of damages. How much do you follow the legal landscape around genetics? And and even if you're not following it from like a ⁓ courtroom standpoint, what sort of keeps you up a little bit? What's what? Where do you feel like there's some vulnerabilities where if not for genetic counselors?
there could be an issue.
Teresa Cacchione (23:14)
think the biggest issue right now is probably understanding pre-implantation genetic testing results. wanting to make sure, know, that science is amazing. And I've seen, I've literally watched the science on PGT happen in real time over the last 14 years. And, you know, the more, and this is kind of echoed in genetics at large in that the more we learn, the more complex it becomes, right? Nothing is black and white in genetics.
it's very infrequently things are just normal and abnormal, there's a lot of gray area. I think having for those more gray area results that we're increasingly seeing on pre-implantation genetic testing, think it's going to be really important to make sure patients understand the implications of those results and understand whether or not they're attempting to transfer them or discarding those embryos or keeping them for the future or cycling again.
having a very clear, which is it's an, it could be an hour long discussion, right? You though it's very, it can get very nuanced. But I think that, and it's one of the reasons why I think we're seeing the increased demand for genetic counselors in this area, aside from the fact that carrier screening has similarly gotten very complex for similar reasons. I think the more immediate, I think risks are surrounding making sure that there's a very clear understanding of PGT results and facilitating the downstream informed decision making related to that.
Griffin Jones (24:38)
So is that mostly for the purposes of informed consent or is there any other application?
Teresa Cacchione (24:46)
I think mostly informed consent. Yes, I think, aside from just understanding the results, I think there's often a misconception that pre-implantation genetic testing is a guarantee of a healthy baby, which of course is never the case. There is no test that could be done at any stage that can guarantee a healthy baby 100%. We just can help us exponentially increase the risks that we can never guarantee that.
I'm sorry, decrease the exponentially decrease the risk. So we can never guarantee that, you know, a healthy baby entirely. I think having documented counseling of that and documented counseling of the potential outcomes or impacts of transferring different types of embryos or helping patients decide whether or not to keep certain types of embryos, I think is where a lot of that risk lies.
Griffin Jones (25:32)
said something similar is happening with carrier screening. What's what's been happening there?
Teresa Cacchione (25:37)
So with carrier screening, it has continued to increase in size kind of exponentially over time as our technology has gotten better, we've been able to include more and more conditions and screening for more and more genes at once as part of the same test. At this point, it is cheaper and faster to screen for several hundred conditions than it used to be to test for one condition about 10 years ago, right? So, but.
you know, our understanding of all of the different genetic information we're getting is not always 100 % clear. You know, we can get gray area results sometimes. And I think there's also a lot of, as I mentioned earlier, a lot of differences between different companies about what they deem as relevant for inclusion, right? So, you know, patients can often get confusing results if they did screening at two different laboratories. So I think that there has been an increased demand for genetic counselors to help.
explain a lot of those discordant results and run through the different pros and cons. Related to that also, that kind of runs into donor dammage, donor eggs and sperm. Someone who was screened five years ago, it may be a carrier for something that is not on the current panel. So it's hard for a patient to get tested for that, right? Even though they know their donor is a carrier. So
we end up kind of jumping into in a lot of cases to help discuss and walk patients and doctors and nurses through a lot of these more complex scenarios. And I think that's where a lot of the increased demand is coming from at this point.
Griffin Jones (27:05)
You mentioned your workflow. How do you work that all into your workflow so that it's not slowing everything down or, you know, derailing patients? A lot of these networks and clinics, they're focused on conversion. We get patients in the door. We got to get them through treatment. Whether they're seeing a genetic counselor in-house or through a third party like GeneScreen, how do you work that into the workflow so that
Teresa Cacchione (27:19)
Mm-hmm, yeah. Yep.
Griffin Jones (27:32)
the train doesn't get derailed.
Teresa Cacchione (27:34)
Yeah, I mean, we in very close partnership with the nurses and the doctors and the coordinators. I think that for so we, for example, at our clinic, we do a training every month for all of the new nurses and coordinators in the practice. So they know what of all of our policies are what the workflow is, how to interpret carrier screening results and PGT report so that all of the lower risk, more basic, you know, sort of concerns that they could answer a lot of the sort of easier questions. Right. I think
we work to sort of with the different indications in our workflow to try to make sure that patients are waiting more than two weeks to see myself and my colleagues. So that as you said, the train isn't getting derailed and we're not seeing a significant slowing of conversion. And if, you know, that time does start to increase, right, that's when we've had conversations that about, this particular consult indication, is that something we want GeneScreen to see now instead, right? Because it could move faster.
So it's a constant sort of, we're constantly watching it and tweaking it and working on it to make sure it is still giving, making sure the patients are sort of getting the information and informed consent we want them to have, but also making sure it's not overly burdensome on the doctors and nurses. And as you said, we're not slowing conversion time. So it is something that needs to be constantly maintained.
Griffin Jones (28:49)
When you have any company, I bet you if you take someone from a department and put them in another department's meeting with the customer, for example, you take the customer service team, you put them in the sales team's meeting with a customer or vice versa, some of them are gonna leave that meeting saying, I wish they didn't say this. I wish they said it that way instead. What do you find that
REIs might be framing a certain way that you think genetic counselors might frame a different way.
Teresa Cacchione (29:21)
I mean, think genetic counselors in general are a little bit, what's the right word for this? A little bit more non-directive, right? So, you know, we, I think, are largely stemming from concerns about risk management, right? I think a lot of the times we will hear that patients were told they had to do carrier screening or they had to do PGT or they sort of...
And I think a lot of genetic counselors, while we will definitely want to protect the practice and talk about the benefits of those things, we are a little bit generally trained more so to be non-directive in our counseling and to make sure patients are aware of the options, but that ultimately they have the choice as to what they want to do in terms of their genetic testing and that genetic testing is always a choice. I think that is a frequent distinction I see.
⁓ between genetic counselors and other providers, definitely.
Griffin Jones (30:13)
You mentioned AI a little bit earlier. Are you using AI now? Is there any sort of genetic counseling AI software that you're using and or any that you're investigating and what applications do you see for AI in the near future?
Teresa Cacchione (30:16)
Mm.
Yeah, we're not currently using it to my knowledge, ⁓ at least not directly with our genetic counseling. There are some companies I'm aware of that are developing a lot of tools involving AI for this. I think it will always be very tricky to do post-test counseling with AI, and I would always be very hesitant to do counseling about results with AI unless...
even the low risk results, it's not only so complex, but needs to be so tailored to the patient's particular educational background, a lot of their preferences in terms of finances, any religious considerations, right? Everything needs to be so tailored to the patients specifically, and the sort of the information needs to support them, that I would be always nervous with that. What I'm seeing be developed and where I think it might have a lot of application is in a lot of the pre-tests.
counseling, right? So counseling patients about what the tests are, what the benefits are, what the limitations are, running through sort of different algorithms depending on what they do or do not choose. That's where I think that might be helpful. That right now, this is a sort of a known problem in the field is that, you know, we would love to be doing more pre-test counseling for patients, but there just are not enough genetic counselors. And I think that
Griffin Jones (31:45)
Is that
patient education or is it something more than just patient education?
Teresa Cacchione (31:49)
It's
education and also in many cases decision making, right? So, you know, could they be maybe choosing between different levels of panel that they might have different panel sizes they might be interested in or, you know, I know for colleagues, you know, in other areas of genetic counseling, I'm thinking like cancer genetics and things like that, right? Based on the family history, what panel would be most relevant? You know, I think that there will be a lot of application for AI in that area in the future.
Griffin Jones (32:15)
How else should genetic counselors be partnering with doctors as, I mean, maybe it's making protocols or how do you work on protocols together? How do you see this relationship in the field between genetic counselors and REIs going in the next couple years?
Teresa Cacchione (32:38)
I mean, think what we're already seeing, starting to see now is really wonderful. And I hope we continue to see more of it is, REIs partnering with genetic counselors in the same way they have partnered with nurses and embryologists, right? So sort of genetic counselors being part of one of the main pillars, especially when it now that pre-implantation genetic testing has become so much more frequently utilized, right? And as I mentioned where
seeing that those results are becoming increasingly complicated and having increasing amounts of gray area. I think that having genetic counselors be sort of, and I'm very lucky that in our practice, I have always been treated that way, right? Have always been sort of part of the conversation with our doctors and our embryologists, but I know that's not the case for genetic counselors everywhere. They're not, I think, always viewed as peers to the rest of the team or viewed as more so ⁓ there for the patient experience and less so to be a resource for
the rest of the sort of leadership and clinical practice team. So I think that I am starting to see that in a lot of, for example, the genetic counseling professional group in in ASRM is now sort of having a lot more being asked to be involved a lot more frequently in writing different policies and opinions, right? We're starting to see that happen more and I'm hoping it will increase from here, especially when it comes to pre-implantation genetic testing.
Griffin Jones (33:59)
How does that work with third party people though? Does GeneScreen use your protocol? When a practice like yours has protocol, how does that work with third party counselors?
Teresa Cacchione (34:14)
They don't usually know or can't really speak to our internal policies and procedures. That's where having an internal genetic counselor tends to help and is why the consult indications that we tend to see are patients that would most benefit from us directly coordinating their care. And that's why we set that up that way. I think in practices where we're not present, a lot of those skills or a lot of those tasks would often fall to
you know, the individuals who are managing the case, like the nurse or the coordinator to read the genetic counseling codes, then talk to the doctor and the patient and say, hey, let's make a plan based on the notes from this outside discussion you had, right? Whereas when that's in-house, we can kind of coordinate that directly.
Griffin Jones (34:58)
Is there like a platform you use? they plug into your EMR? How does that work?
Teresa Cacchione (35:04)
⁓ So the, the GeneScreen will send us notes, right? There is a platform where that, those can be transmitted through. And then internally, you know, myself and my colleague will create genetic counseling notes directly in the patient's chart so that the doctors can read. And we also send those out to the doctors and the nurses as well.
Griffin Jones (35:21)
I'm thinking of Jamie Metzl and perhaps others.
⁓ that think that most human reproduction will be done through assisted reproduction and therefore genetics will be much more involved. How do you see genomics being applied in ways that it might not be today?
Teresa Cacchione (35:38)
I mean, right now we're really using genetics in two ways in IVF, right? We're using it to screen for inherited recessive disorders, so what are called Mendelian disorders, which only make up about 10 % of human disease. And then we're screening embryos for chromosome abnormalities, which are not usually inherited, just usually arise sporadically, right? During the formation of eggs and sperm. And those are kind of the two different areas right now.
there is a humongous sort of missing piece there, which is what's called multifactorial human disease, right? So diseases that aren't based on one single gene going awry, but caused by complex interplays between hundreds or even thousands of genes and environmental factors that we don't understand very well yet. So I think that
in as our understanding of the development of those conditions and the many, different contributing genetic factors and how they interplay with one another and how they interplay with the environment. As our understanding of those gets better, it's certainly possible that we could have a greater ability to sort of predict risk for those conditions through embryo testing. And there are some companies offering that now, but it is generally fairly understood that that's
very preliminary our understanding of those diseases and it's not something that's really being really offered across the board and does start to come into some ethical territory in terms of we would only be ever assessing potential risk for the disease and not presence or absence of the disease itself, which starts to go into a moral gray area. I think that's the next phase of this is, we're screening for chromosome abnormalities and this small subset of
genetic disorders that are inherited, but what about everything else? I do have to say, I have heard that prediction stated very frequently from various different sources, that eventually the majority of human reproduction might be through assisted sources. As someone who's been in the trenches for many years of this, I am a little skeptical of that. It is not common that we meet a patient who's happy to have to be undergoing IVF.
Griffin Jones (37:47)
Well,
eventually is a very long time, Teresa.
Teresa Cacchione (37:50)
Yes, that's true. That is true. Yes, yes. So that might be a little short sighted. That always feels a
little bit difficult for me to believe. ⁓ It is certainly possible that it will become more common though. Yeah.
Griffin Jones (38:01)
I mean, do we think that 400 years from now, human beings are going to just be having sex at random to procreate if there is so much more available through genomics and ART?
Teresa Cacchione (38:14)
Yeah, think a lot of changes would have to happen within IVF for that to be possible first, right? And that's usually, I mean, I think right now for a lot of patients, we're struggling to find embryos that are even viable from a chromosome perspective, right? Nevermind, then we start saying, okay, this one has a slightly higher chance of heart disease, or this one has a slightly higher chance of diabetes, right? I think that we would have to sort of be at a very different space in IVF where we were through...
Griffin Jones (38:20)
Like what?
Teresa Cacchione (38:41)
various, whatever methods, maybe we are become developed in the future, know, stem cells, whatever, you know, we would have to have a lot more eggs and embryos to work with. And I think that there's some major, I think developments that still need to happen on that front before that's feasible. We would have to overcome age-related infertility first, essentially.
Griffin Jones (38:56)
What are the-
And there are people working on that.
Teresa Cacchione (39:01)
I know, yes, there are, there are. So that's why it's not impossible. But I
always think that with that stave, as I was reporting the cart before the horse.
Griffin Jones (39:09)
I'm not sure how much insight you have into what payers like the employer benefits management companies cover and don't, but are there things that you often see not covered that you think if this were covered, it would have ⁓ a net benefit?
Teresa Cacchione (39:14)
Hmm.
I mean, I do think that we are increasingly seeing payers cover it, but it is unfortunately still very common for a lot of major insurance companies. Less so specific fertility benefits, but major insurance companies, a lot of them will not cover carrier screening still. A lot of patients are paying out of pocket for that. It luckily has become a lot more affordable than it used to be, but we're still seeing a lot of, and even though it is now, you know,
recommended that anyone who's trying to conceive have at least 100 recessive and X-link disorders tested. Most payers are still not covering that. And a lot of payers will not cover chromosome screening, pre-implantation, genetic testing for aneuploidy. A lot of times that is not covered either. And while there's been debate over, I think, the benefits of PGTA for patients under age 35,
We know that it increases the live birth rate and significantly decreases the chance of pregnancy loss for patients over age 35. And I think that if more payers covered that we would be making it much more accessible for patients to sort of reach their goal.
Griffin Jones (40:34)
If you could make one broad change, you could wave a magic wand and there's some sort of either policy decision or protocol change or maybe something that hasn't been studied that you want to see more literature, more data on. If you could make any positive change that is within the realm of possibilities in the next year or two, what would it be?
Teresa Cacchione (40:56)
Yeah, I mean, there are still so many people in this country who don't have access to it at all. I mean, we just it was not within the last five years that it was even in our state, right in our in New York state where I work where, you know, it was a required benefit, you know, for employers above a certain size to cover IVF. So I think that, you know, we're a lot of what we're talking about is currently still inaccessible for an incredible number of people. And a lot of people don't have access to these benefits at all.
never mind the potential future applications of them, right? So I think that if I could change one thing, would, and I've seen a lot of improvement in the last, my last 14 years in this field, but I think we're still sort of a long way off from the level of access that everyone should have.
Griffin Jones (41:44)
There's increasing demand. There's only going to be more so. So I'll be looking forward to following up on what's happening with genomics and following up how you're dealing with it at RMA of New York and the rest of your colleagues. Cacchione, thank you so much for coming on the Inside Reproductive Health Podcast.
Teresa Cacchione (42:04)
Thank you.
