Transcript

Episode 3: Prenatal Genetic Counseling Unlike Therapy in Any Other Setting with Kendra Schaa, ScM, LGC

KEY TOPICS

  • Introduction to personal story of prenatal genetic counseling and history of genetic counseling profession [0:00 - 8:03]

  • How does genetic counseling’s roots in the field of biology more than psychology or therapeutic counseling influence the profession today? [08:03 - 10:45]

  • How does the genetic counseling interaction need to change? [10:45 - 12:23]

  • With so many genetic tests out there, how do you think genetic counselors can best support patients to decide what tests are right for them? [12:24- 14:49]

  • What tools do you think genetic counselors need? [14:49 - 17:30]

  • Can you talk a little bit about Allay Life and your focus on providing therapeutic support to people during their reproductive journey? [17:30 - 19:32]

  • As a genetic counselor, what do restrictions on women's rights to choose when to terminate a pregnancy mean for how you counsel them? [19:32 - 24:47]

  • How do you think genetic counselors can be champions of the future of genetics in medicine? [24:47 - 28:27 ]

  • Wrap-up [28:27 - 29:10]

 

Interview

[0:00 - 00:02:57]

[0:00-8:03]

Susanna Smith: Hi, everyone. This is Genetic Frontiers, a podcast about the promise, power, and perils of genetic information. Find us wherever podcasts are found and go to geneticfrontiers.org to join the conversation about how genetic discoveries are propelling new personalized medical treatments but also posing ethical dilemmas and emotional quandaries. I'm your host, Susanna Smith.

On today's episode, we will be talking about genetic counseling and how meaningful, emotional and decision-making support can be forged between counselors and clients. We will also be exploring the history of the profession and how the exponential growth in genetic testing impacts the counseling relationship. And I want to begin today's episode with a personal story.

I have a 50% risk of having a rare autosomal, dominant genetic disease, a disease for which there is no treatment and no cure. And I've been to genetic counseling, perhaps more than your average person. When my husband, John and I were considering having a second child. I met with a genetic counselor at a major hospital system in North Carolina. I didn't know at the time, and I still don't know whether I've inherited my mother's mutation, but if I had, I was dead set against passing it on.

I sat down with the genetic counselor in a small office with a desk and armchairs. She told me she wanted to do a complete family history, and she looped back to the conversation about my mother's mutation at the end. I agreed, but I felt impatient. I wanted to tackle the thing I cared about most.

The genetic counselor started with standard questions and drew a family tree. circles for women and girls, squares for men and boys, connecting lines to signify relationships by blood, marriage. or adoption. It was the fourth time I'd watched this tedious exercise and wondered. “Why isn't there an app I can use to generate this automatically?” She handed me a couple sheets of paper branded with the logo of a testing company. Each sheet was organized into four columns, twenty-five rows deep and listed in tiny print in alphabetical order were the names of genetic conditions.

There were more than 150 conditions on the list. My undergraduate degree is in biochemistry, and I took a college level genetics class, but I couldn't decipher this list.  My eyes darted over words that registered no meaning. Mucopolysaccharidosis, Type IIIC (HGSNAT), Methylmalonic Acidemia, MMUT-related (MMUT). I scanned the list for anything familiar. Non-syndromic Hearing Loss and Deafness, I read. Hereditary Fructose Intolerance.

I asked her if there was a way to group the list. There were some conditions I’d heard of like Fragile X syndrome, muscular dystrophy, Tay-Sachs. But I wanted to know which of the other conditions were likely to cause significant suffering or death before age five?

The genetic counselor explained a few conditions but ended up telling me that unfortunately it was the list she was given by the testing company. She suggested I take it home and discuss it with Jon. I told Jon that night, “I don't even know how to begin deciding on this many conditions. How are we supposed to make 150 informed choices? What are they going to do when that list becomes 500 tests or a thousand?”

Jon mentioned “choice architecture,” a concept from the field of behavioral economics, using choice architecture, complex choices can be structured in different ways. One of them is by grouping the decisions based on the factors people weigh when deciding, for example, which conditions are highly treatable or fatal, and he pointed out that although a genetic counselor might not be able to discern that information from a list of a thousand, or even 150 options a computer could. We didn't have such a system to rely on at the time. And I'm not aware that one exists today. By and large I found the experience of going to genetic counseling, deeply unsettling and largely out of touch with my needs for emotional support and guidance. I've often wondered why but I assumed the problem was with me. I was a difficult patient.

Then I read a book called Blood Matters by Masha Gessen. Gessen is a writer for the New Yorker magazine, and is probably best known for their criticism of Putin and Trump and their advocacy for LGBT rights. But in Blood Matters Gessen explores a different topic, their experience going through genetic counseling after learning they are a carrier for the BRCA1 gene. They equate the experience of post-test counseling with feeling like they're failing an exam and question why genetic counseling felt so unlike counseling or therapy in any other setting. I would have to agree.

In his seminal textbook Genetic Counseling, Psychological Dimensions, Seymour Kessler discusses how from its inception the genetic counseling profession was more deeply rooted in biology rather than psychology or psychiatry. The profession's origins still influence its practices today.

In tracing the history of the profession, Gessen writes that for much of the twentieth century genetic counseling was handled by academic geneticists who were PhDs, sometimes MDs, and mostly men. Molecular genetic testing didn't exist yet. Geneticists relied on what was known about inheritance patterns to counsel families about potential genetic risks to future children.

 And in the early twentieth century American geneticists were very much influenced by the eugenics movement but many geneticists sought to distance themselves from eugenics and the horrors of Nazi Germany after World War II. 

The field began to adopt an approach called non-directive counseling, first pioneered by Carl Rogers in the 1940s. In the context of therapy, the non-directive approach centers around the idea of the therapist as a facilitator who reflects a client's thoughts back to her as a way of supporting the client to make change. As Gessen points out, “In the field of genetic counseling change is often impossible.”

The non-directive approach has been translated in genetic counseling as delivering information about genetic risks without guiding women and families on what to do with that information.

For much of the 20th century geneticists could assess potential risk but these assessments were far from conclusive. Women and couples were left trying to negotiate decisions about abortion and potential future pregnancies at a time when birth control was not yet widely available, and abortion was not legal in all states. The decision to terminate a pregnancy was often made at the discretion of a physician.

With the passage of Roe V. Wade in 1973, which has since been overturned, the focus on neutrality around abortion moved towards supporting women's rights to choose what to do with the pregnancy. Sarah Lawrence College started the first master's degree program in genetic counseling in 1969 training young women largely to become genetic counselors. The field of genetic counseling was also beginning to expand beyond prenatal and reproductive choices, to encompass cancer genetics and other hereditary-linked diseases. Clinical genetic testing, today a staple of the genetic counseling conversation, became available largely in the 1990s, and has exponentially grown since then.

Today we will be discussing how the origins of the genetic counseling profession influence its practice, how the technologies used by genetic counselors have changed radically over the last couple of decades, and how all of this influences the relationship between genetic counselors and the people they see.

And I'll be talking today with Kendra Shaa, a board certified genetic counselor, who is the supervisor of a prenatal genetic counseling program at a large academic medical center.

She is also the founder of Allay Life, a virtual genetic counseling service for patients who receive unexpected news during pregnancy. Kendra is passionate about teaching the power of the therapeutic relationship and improving patient outcomes. Kendra, thank you for joining me today on Genetic Frontiers.


Kendra Schaa: Thank you for having me.


[08:03 - 10:45]

Susanna Smith: So I want to start today, Kendra, with talking a little bit about how the field of genetic counseling has been rooted historically more in the field of biology than psychology or therapeutic counseling. How do you think this influences genetic counseling today?


Kendra Schaa: So much of what we do is really in the setting of emotionally charged conversations occurring at defining moments in people's lives. And our profession since the birth in the 1960s has really been filled with conversations about guilt, shame, anxiety, uncertainty. And when the profession started there weren't a lot of tests that were able to be offered, right? So there was a lot more uncertainty than there is today.

And so why our field has remained isolated from the larger field of psychology is really a mystery. I think that part of that is just because the field was born out of a time of biologists, researchers who are doing some of the genetic counseling, I would say, because of so much evolution of genetic testing, there's always this, “Oh, my gosh! We have to stay on top of what's the latest test? What's the latest technology? What do we know about this condition? What do we know about the symptoms and the signs?” But it's not something that really needs to be taught at length during training. And that's because the information is going to become outdated. So I would much prefer that genetic counselors training is at least equally focused on counseling skills like we talked about, communication skills that are not going to go outdated. Students really need to be able to practice building a therapeutic relationship in clinical encounters when they enter their first rotations. You know, they need to be able to be given an opportunity to know the person in front of them to be curious about their life.

It's really not feasible to ask a student who was never allowed that opportunity or given the skills and training to go out and practice a more therapeutic counseling model of practice when they don't have the skills to do that.


Susanna Smith: Yeah, and I'll be honest. I have never heard words like guilt, or shame, or fear

or hope in any genetic counseling session I've been a part of, and all the sessions I participated in basically followed a script of collecting a family history, assessing risk and being offered a menu of testing options. And those sessions were deeply emotional for me, but they also left me feeling very alone with figuring out what to do with my feelings.


[10:45 - 12:23]

Susanna Smith: So how do you think genetic counseling interactions need to change?


Kendra Schaa: We need to really be tailoring what we provide to people. And that starts by understanding who is in front of you. What do we know about them before we just start talking at them? Put away your flip books, genetic counselors, please, because patients don't come in for a science lecture.

Now, some people really do have a lot of informational needs, and they are very curious about specific technologies and the specific chromosome that the gene is on but most people are not. So we need to get out of our minds and be present in the moment to listen to what someone is telling us to move away from this fear that we have to say all of these things because that's what we were taught, and to let a patient guide what's important to them. It might not be at all what we think is necessarily important, and that's the point of contracting at the beginning of a session. Like what is important to you? What are you hoping to get out of this genetic counseling appointment, listening deeply for comments that might suggest that there's a lot of feelings of guilt, or there's a lot of fear, or there's a lot of anger, addressing that, not being afraid to ask difficult questions to probe.

Curiosity goes a very long way, not assuming that you know who's in front of you because of what you read in their medical record.


Susanna Smith: Yeah. And I think that curiosity is the basis for making real and meaningful connections within that encounter.


[12:24 - 14:49 ]

Susanna Joy Smith: So I want to shift gears for a moment and talk about the explosive growth in the number of genetic tests. Because last time I checked there were an estimated 37,000 genetic tests on the U.S. market.  So with so many tests out there, how do you think genetic counselors can best support patients to decide what tests are right for them?


Kendra Schaa: The market is flooded with genetic tests, and that has really led to the potential for confusing and overwhelming people with choice. The more choices people have in many ways the more overwhelmed people feel and thinking about how genetic counselors can really help people in making choices when there are so many. Again, it's impossible to go through here are all the tests available. Let me tell you all about each one of them, and about what they can test for. So we have to flip the conversation to let's focus on what is that person's values and beliefs? What are their past experiences? What are their experiences with disability?

What information would be important to them to know and what tests can give them that information. But right now that isn't really happening, because, as you shared, counselors are spending time collecting a family history, reviewing some basic genetic concepts, reviewing the menu of tests. We don't need to fear that a patient has to hear about every single test to make an informed choice. We have to trust that if we understand the patient, we can tell them what testing will give them the information that they want. And so that means as a profession, we have to accept that AI technologies can do a lot of the education that we're currently doing as effectively as any human can do.

We shouldn't think about it as a threat to our profession. We need to believe as genetic counselors that we offer a lot more than the education. No AI technology can replace the human touch of empathy, of compassion, of feeling, heard or understood, and so leveraging these tools will allow for conversations that are more focused on the person in front of us, and understanding who that person is, and what's important to them.


[14:49 - 17:30 ]

Susanna Smith: So expanding on this idea of changing the genetic counseling interaction. What tools do you think genetic counselors need?


Kendra Schaa: I would say we certainly need to start leveraging technology to educate

people preparing to start a family, or who are currently pregnant for families to make an informed decision about genetic testing. They have to be provided with accurate, up-to-date information, including what are the risks? What are the benefits? What are the limitations of the different tests?

And there's really no reason that a human needs to be explaining some of this same information over and over to patients that can be leveraged by technology and tools. And so there are already hospitals across the country who are using chatbots that interact with patients prior to their appointments, to collect some information, maybe, about their family history, to ask them questions about what they might want to know about the health of their pregnancy.

I certainly see value in technology that could be available to assess a couple's values. See where they are in agreement, see where they're not having something available from their own home and during a time kind of that is a little less heightened with anxiety, not in a doctor's office to work through their own thoughts about what they would want to know about the health of their potential children and what they wouldn't want to know, what they might do with that information. Again, I think those types of questions could be asked through a module.

I think genetic counselors have a critical role in being at the table of conversations with, you know, app developers with genetic testing companies who offer these types of services with national organizations that are trying to create genetics education materials. Because we know kind of what patients need. We know the areas that aren't getting routinely discussed in the clinic. We certainly have expertise in making sure that the language that we're including in these education modules is appropriate  and has an inclusive language to the disability community and to people's lived experiences with genetic conditions.


Susanna Smith: I agree, genetic counselors have a critical role to play in helping to develop the next generation of technologies and tools to support patient education and decisions.


[17:30 - 19:32]

Susanna Smith: Can you talk a little bit about the practice you're building at Allay Life and your focus on providing therapeutic support to people during their reproductive journey?


Kendra Schaa: So I have been a prenatal genetic counselor for about twelve years now, and during that time I've really watched the evolution of prenatal genetic testing, the push of industry to bring these tests to consumers and the shrinking amount of time that patients have with their OB providers, who are often the ones offering genetic tests to make informed decisions. And with that there's this evolving healthcare technology space and laws that are allowing patients immediate access to their test results and their medical records. 

And this entire combination of factors has led to more pregnant people getting genetic testing, not always understanding what the test they had was for,  more patients receiving a prenatal diagnosis, and prenatal ultrasound technologies continuing to improve. So that's leading to a diagnosis of more differences in fetal growth and development.

After years of working at this large academic medical center and meeting families, who have spent sleepless nights googling the genetic test result, or whatever they read in their medical record, waiting weeks sometimes to meet with myself or another genetic counselor specialist. I thought there has to be a better model for the care we provide to these patients.

So the vision for Allay Life was really founded out of this idea to provide a virtual sort of crisis counseling model to people who receive unexpected news in pregnancy that might include a positive prenatal, genetic test result, an unexpected ultrasound finding, or someone who's experiencing pregnancy loss.


Susanna Smith: Thank you for sharing a bit about your private practice with us.


[19:32 - 24:47]

Susanna  Smith: So I want to shift now and discuss a big, legal, and political change that happened in 2022, which is that Roe v. Wade was overturned. And we've returned now to a place nationally that echoes of an earlier time, where women's access to abortion is dependent on which state she lives in. And I want to talk about what that means in practical terms for the genetic counseling relationship, particularly in the prenatal space.

I've talked a bit about my personal experience with prenatal genetic testing but I wanted to share that during my first pregnancy I knew before I was pregnant that I planned to undergo genetic counseling and testing using chorionic villus sampling, which can be offered between weeks 10 and 13 At the time I lived in western North Carolina, where there was one physician who performed this procedure. And I couldn't get in with her.

So I went to Charlotte, the nearest big city, and they couldn't fit me in until the beginning of week 12 of my pregnancy. And one of the tests I was having took at least 10 business days to return results. And what that meant was I didn't get the test results until the end of week 13. Depending on how those test results looked, I was considering terminating a pregnancy, although I very much wanted to have a baby. So at the time North Carolina allowed abortions until the 19th week of pregnancy.

But that law has since changed and today women in North Carolina can only terminate a pregnancy through week 12, except in cases of rape or incest. As we all know, there are a number of other states that have passed similar or even more restrictive laws.

So as a genetic counselor, what do these types of restrictions on women's rights to choose when to terminate a pregnancy mean for how you counsel them?


Kendra Schaa: Yeah, it's a heavy topic, to say the least, and I think many people are just unaware of when prenatal genetic tests can be performed in pregnancy. When a baby's anatomy can be well visualized on ultrasound. The reality is as you just shared most prenatal screening tests cannot be offered until at least 9 to 10 weeks in pregnancy. There's really no genetic testing outside carrier screening that can be performed before the 9th week of pregnancy and tests that are for specific genetic conditions that run in a family have to be performed through collection of a sample of the placenta by CVS between weeks 10 to 13, or by collection of the amniotic fluid after the 16th week of pregnancy. In almost all circumstances the results of that testing take at least a week, sometimes up to three to four weeks to return.

And so what that really looks like as you've shared on a practical level is that for families who know that they're at risk to have a child with a genetic condition, they are not getting that testing information back until at least week 13 in pregnancy. Sometimes, if they don't have access to a provider who performs a CVS procedure, they have to wait until an amniocentesis at 16 weeks, which means results are coming back at the 18th or 19th week of pregnancy, which is often beyond the timing when they could interrupt a pregnancy, if that was their choice. 

And so really, our role has become preparing patients, that some information about their baby's health and development is just simply not going to be available at the time they might have hoped to have it. It means helping families kind of prepare for what options would exist if they receive a prenatal diagnosis later in pregnancy, and their state doesn't allow for pregnancy termination. 

That might be walking people through the option of continuing the pregnancy with ongoing support, thinking about adoption. Thinking about, do they have the resources to travel out of state, sometimes across multiple state lines, to consider a pregnancy termination. And so on a practical level that's also a lot of time spent in just genetic counseling sessions focused on very again, practical issues like, where could they travel? What resources are available? What insurance will and won't cover? And that really takes away time from building a relationship with a patient and helping them work through whether it's decision-making or through their grief or through the processing of the decision. 

Because we're forced into discussions that are really preparing people for barriers that we didn't used to have to think or worry about. And in some states genetic counselors really have to worry about the language they use in those counseling sessions or what they document in a patient's medical record for fear of litigation. So it's definitely changed the conversations that we're having. And it's often very distressing for pregnant people to realize, I can't necessarily get the information back that I wanted at a time that I wanted it. And how do I cope with that? You know uncertainty and the fear of what I'm going to do if I receive a diagnosis, and I don't have the options that I was hoping to have.


Susanna Smith: Thank you, Kendra.


[24:47 - 28:27 ]

Susanna Smith: So I want to wrap this conversation up today by asking, how do you think genetic counselors can be champions of the future of genetics in medicine?


Kendra Schaa: Let's start by promoting a counseling model of practice and training and through continuing education. Information that can be readily found online doesn't necessarily need to be taught. Critical thinking needs to be taught, the ability to communicate effectively needs to be taught. The ability to navigate difficult decisions, to facilitate informed decision making those skills need to be taught and counseling interventions to help people when they share feelings of shame or guilt.

We have so much research that demonstrates that this counseling model is associated with higher patient satisfaction, levels of reduced anxiety, enhanced knowledge, informed decision making. So why aren't the majority of genetic counselors practicing this model?

This also means genetic counselors should be attending conferences in the field of psychology and participating in national organizations surrounding this discipline. We often attend, you know, the National Society of Genetic Counselors meeting, the American Society of Human Genetics, the American College of Medical Genetics meeting. But there are so many meetings and conferences surrounding psychology and counseling skills. I think really connecting in this space would be critical to move the profession ahead. We refer a lot of patients to long-term therapy. And so creating a space where we can help therapists understand what we do. And we can learn a little about some of the tools that they have that we could apply in the short-term would certainly, you know, better serve, I think, our clients needs.

Another area that I haven't talked as much about that I think genetic counselors can really be leaders is promoting a more inclusive narrative of disability and normalizing genetic differences not just to the public and to the people in front of us, but to other health care providers as well.

This might mean more disability education in our training. This also means, you know, reminding people that negative genetic test results can't necessarily predict quality of life or prevent suffering. There is a limit to what our genetics can tell us, and sometimes the focus is on what does a positive result mean? But there should also be, you know, an equal conversation being had about what are the limits of a negative test result. 

And so that really just calls for, I think advocacy throughout our careers and advocacy in many ways, right? Advocacy for creating educational tools that attend to these issues, writing genetic test reports that don't reflect this medical model of disability, working with organizations to write recommendations about testing and develop policies.

And ultimately, I think we have to understand that the number of genetic tests on the market is not going to decrease in size. While it may change, it's likely just going to continue to evolve and get larger and larger. It would really serve our profession and our clients well if we embraced this more relational approach to our work.

I think anyone listening can agree that as humans, we share a collective need to be seen, to be heard, to feel understood. And we shouldn't forget that.



[28:27 - 29:10]

Susanna Smith: Kendra. Thank you for joining me today on Genetic Frontiers. For anyone who would like to learn more about Kendra's work at Allay Life. Go to https://allay-life.com.


Genetic Frontiers is co-produced by Brandy Mello and by me: Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein. Thank you for listening to this episode of Genetic Frontiers connect with us at geneticfrontiers.org or on Instagram and Linkedin at Genetic Frontiers, to continue the conversation. If you enjoyed this episode and would like to support our independent production. Please make a donation to Genetic Frontiers through our Patreon account.