Genetics: Counseling Fertility Couples About Their Evaluation

Caitlin Hebert discusses fertility counseling, the importance of carrier screening, and overcoming barriers for patients while highlighting the role of genetic counseling.

Hi, my name is Caitlin Hebert. I'm a nurse and a clinical educator at Shady Grove Fertility. I'm also the current chair of the nurse professional group at ASRM.

In my not-so-distant past, my husband and I decided we were ready to start having kids, and we did what a lot of people who are getting ready to have kids do. We started telling everyone that we were getting ready to have kids. We're telling the neighbors, we're telling our parents, we're telling our friends, which it's kind of awkward if you think about it.

You're like, hey, guess what we're doing? A lot, a lot. But I'm actually really glad that we did this because we reached out to my mother-in-law, and we're telling her about what's going on, and she pulls me inside it, and she goes, hey Cait, you know, we're carriers for Tay-Sachs, so you should really look at getting tested. And I was like, whoa, I'm not even pregnant yet, and I might have a kid that has this really scary disease.

And it's under this very personal context that I want to talk to you today about counseling fertility couples about their evaluation. I'm going to talk to you a little bit about some of the intrinsic and extrinsic barriers that you're going to have to be aware of when you're counseling patients. I'm going to talk to you a little bit about the limitations of the test, as well as our own as healthcare providers.

And finally, I want to talk to you a little bit about counseling with treatment as related to this evaluation. So, obviously, I had a huge incentive to do carrier screening, right? But not all of our patients do. And in fact, that makes sense, right? And we as humans are not very good at judging risk.

And so we should be aware of that when we're talking to our patients. You know, we're a species that's used to saying like, oh, there's a bear. That's a problem.

I know that's risky. We have a much harder time judging risk in relationship to theoretical ideas. And there's also this thing fairly well established in social science called an optimistic bias.

And an optimistic bias basically says that we believe good things will happen to us and bad things won't. I definitely won't get cancer, and I will absolutely have the smartest child in the classroom, despite what evidence, professionals, the data suggests. So when we're counseling patients about whether they should pursue this testing or things like that, we have to be aware that they are coming into that conversation not very well able to establish risk and with that optimistic bias.

So that's an important piece when you're talking to them. So that's an intrinsic barrier, but what about an extrinsic barrier? So a 2017 study by Gilmore et al. found that women who were eligible for carrier screening opted not to do the carrier screening, not because they were against it or didn't understand the rationale, but for logistical reasons.

So when I went to do carrier screening, I found out, I talked to my insurance, and it was going to cost me hundreds of dollars. So even though I was trying to save every single dollar bill because I was getting ready to have a kid, I'm now having to spend lots of money on something that's a theoretical risk. And on top of that, lots of patients may have to travel to a separate place to have this blood drawn.

Or they may also not have, they may not be able to start treatment until they've completed this testing, right? They need to have decided that they want to do the testing. The testing may take a few weeks to get those results back. They may have to have all these things, and whether you recognize it or not, they perceive that as a barrier to getting started.

So that's a logistical reason that they are not pursuing this treatment. So how do we overcome that? Well, of course, we're going to counsel them if they are going to do this treatment to get started with that as early as possible so that there isn't the delay in treatment. And we should also be using our platform to help remove some of those logistical barriers.

Talking to insurances, hey, we should cover this because we think it's a valuable thing. Or making partnerships with these labs to make it more affordable or drawing it in-house so patients don't have to travel to get these testing. It's really important for us to be cognizant of those intrinsic and extrinsic barriers so that we can make things as effective as possible.

Now, I have some good news. I came back totally negative for all the tests. And I was like, woohoo, that means nothing can go wrong.

And that was actually really helpful for me to talk to a genetic counselor in relationship to that result. Because they were able to go over things like residual risk with me, right? And they were able to talk to me about the limitations of the testing itself and really go into detail. And more than that, too, we were able to establish a relationship where I knew if something did come back that fell outside of these expected parameters, I could always go back to that genetic counselor and continue this discussion having that relationship.

So not only was it important for me as a patient to understand the limitations, but it was also important for me as a healthcare provider to recognize my own limitations and how important it was to really have a genetic counselor go through all these things and be a part of that interdisciplinary team. I think we all know that genetics is getting increasingly complex. Like I said, there's add-on testing we heard.

There's all sorts of times where these variants that yesterday weren't pathologic and now today they are. This increasingly complex world demands that we rely on our interdisciplinary teammates so that we as healthcare providers are not living on an island, which we're used to be, right? We're used to being it for the patient, one-stop shop. But by working with our partners, we're not only helping ourselves by freeing up time or making sure they're getting, we're actually helping the patient have a more comprehensive evaluation and consultation in relationship to these results.