Genetic Counseling Now and in the Future: Q&A with Prof. Laura Hercher
Shortly after I found out I was pregnant in my mid-30s, before I even saw a doctor about it, my health insurance provider prompted me to set up a tele-health appointment with a genetic counselor via the Genetic Support Foundation to discuss possible non-invasive prenatal screening (NIPS) options. Now mind you, I’m a cultural anthropologist, with zero background in genetics, and although I was generally aware of the increased risks resulting from my so-called “advanced maternal age,” I had only the vaguest notion of what a genetic counselor was or why one had been assigned to me.
Fast-forward a year later and here I am working for Variant Bio, bouncing a babbling baby on my knee, and chatting over Zoom with Laura Hercher, a clinically trained and certified genetic counselor and one of our company’s Ethics Advisory Board members. Laura is the Director of Research for the Graduate Program in Human Genetics at Sarah Lawrence College — the first program of its kind in the United States and the largest graduate program in genetic counseling in the world. She has written widely on the ethical, legal, and social dimensions of genetic medicine, including articles in the New York Times, Scientific American, the MIT Technology Review, and many other publications. She is also host of the podcast, The Beagle Has Landed, and co-founder of and regular contributor to The DNA Exchange — a blog for the genetic counseling community — as well as the author of Anybody’s Miracle (Herring River Press, 2013), a novel about the ethics of IVF.
Throughout the course of our conversation, I was able to make much more sense not only of my own brief encounter with genetic counseling, but also the broader philosophy behind the field, the changes and challenges it faces, and the key ethical lessons that Laura, as a genetic counselor, brings to the table at a mission-driven genetics company such as Variant Bio.
This interview has been lightly edited and condensed for clarity.
Sarah: First, could you share a little bit about how you got into genetic counseling in the first place?
Laura: I have a very atypical genetic counseling story. The typical genetic counselor-to-be is a bio, psych, or some other science major who really loves genetics but can’t see themselves in a lab for their whole career and feels the need for something more interactive and person-centric. So they find genetic counseling and they’re like, “Eureka, this is it!” I’m the opposite. I never took a science course in college. I was an English major and I was going to be an English professor. I went as far as being in the PhD program at Columbia in English Literature, but I left. I had a lot of doctors in my family, and what I was interested in was medical ethics. I had a philosophy minor. But what I really did in my 20s was have three children, and while I was doing that, I was thinking about what I was going to do next.
In those days, in the early 1990s, there weren’t as many bioethics programs as there are now. I was taking a few classes and thinking about how I was going to go about making that into a career, when a dear friend of mine had a terrible experience in her reproductive life. She had multiple, multiple miscarriages, and desperately wanted a baby, and finally held a pregnancy past twelve weeks only to find out that there was something very, very wrong with the fetus and it wouldn’t be able to live. We were talking, in this terrible moment, and she said, “My genetic counselor was really helpful.” And I said, “What is a genetic counselor?” I had never heard the term before, so she explained what her genetic counselor did, and I thought, wow, this is a way to be involved with ethics but also with people and bring some scientific and clinical understanding to the academic pursuit of bioethics. So I went into genetic counseling thinking to bring those things together. In the end I did exactly what I intended to do, but the path was completely unforeseeable from the beginning.
Sarah: What is the path to becoming a genetic counselor — is it through a program like the one you’re involved with at Sarah Lawrence?
Laura: The typical genetic counselor has a Master’s. I know many who have PhDs, and a handful who are also MDs. But a genetic counseling degree is a two years Master’s program that combines knowledge about human genetics and the clinical applications of it with a background in counseling. Because the ethos of the field is such that we believe that, just as genetics isn’t one size fits all, the value of any piece of genetic information has to be contextualized and is different for everybody’s life and family. So a big piece of genetic counseling is creating what we would call a therapeutic relationship with an individual or a family to help them determine not just a set of facts related to their genetics but also an understanding of their own goals, needs, and anxieties, and how genetic information — getting it or not getting it — can serve them.
[J]ust as genetics isn’t one size fits all, the value of any piece of genetic information has to be contextualized and is different for everybody’s life and family.
Sarah: In a nutshell, what is it that genetic counselors do exactly?
Laura: Genetic counselors work with individuals and families to try and help them sort out, gather, and assimilate genetic information — in terms of family health history information, personal medical information, and genetic testing — into their understanding of their own health in ways that empower them to improve their health or reduce their risk, or control their reproductive risks, or just understand what’s happened to them.
Sarah: You’ve mentioned reproductive health a few times. Is that one of the key areas of genetic counseling?
Laura: It was an initial key area. In the first 20 years of the field if you met a genetic counselor it was likely to be around an amniocentesis or other prenatal testing. But now that’s really just one slice of the pie. There are so many areas where genetic counselors work, including increasingly the whole pie picture of genomics, where people take a full snapshot of whatever depth of their whole genome and maybe use that information to speak to all sorts of risks, including reproductive risks.
Sarah: What are some important lessons from genetic counseling that you bring with you to Variant’s Ethics Advisory Board?
Laura: [For one], an understanding that genetic information without context and without resources is not necessarily a gift. I think that’s a very important thing to understand in our enthusiasm to bring genetics to the far reaches of the world. This gathering of information and the ability to include far-flung or unique populations in the world’s collection of data is valuable. But having worked for twenty years in a clinical field, what I bring to it is an understanding that if you want to make genetic information useful to people, you have to understand: first, what they want from it; second, what they don’t want from it; and third, the context of how they live. It doesn’t help to say “We’ve identified a higher risk for psychosis in your child” if you can’t give them follow-up and medical help and an explanation of how to use that.
[G]enetic information without context and without resources is not necessarily a gift.
Genetic information can be burdensome. We’re correctly focused on the medical consequences of giving out risk information — Is it burdensome? Is it right? Is it wrong? Is it well understood? And so on. But one we often miss, that clinical people are really concerned about, is the tricky business of residual risk. One of the tricky things about giving out information [to people] is that it very seldom means that they’re cleared from all risk. That negative space of information isn’t exculpatory. The risk associated with being told “Guess what, we didn’t find anything, this is terrific” is the one that’s most likely to be ignored and the one that, all in, has maybe the most serious medical consequences.
The risk associated with being told “Guess what, we didn’t find anything, this is terrific” is the one that’s most likely to be ignored and the one that, all in, has maybe the most serious medical consequences.
Because genetics — and I love genetics, this is my field, and I’m so excited about all the value that it brings — but sometimes when people start thinking through the genetic lens, it’s all they see. And of course it’s not determinative of what happens in your life. Risk only exists in a context. You take someone with a certain polygenic risk for cardiovascular disease to another culture and another diet and set of life events, or you take them to somewhere dangerous for other reasons, and its likelihood of being the dominant factor in their life alters vastly. So you always have to be wary of the value of genetic information — it can only be understood in context.
Sarah: How does the relationship between clinicians and genetic counselors generally work?
Laura: In a clinical setting, genetic counselors often work as part of a team, especially in areas where the clinicians are not comfortable with genetics, which is a lot of areas right now. For example, cardiology is an area of great growth in genetic counseling. Ten years ago, we all knew that, like many things in genetics, you can divide the risk into typical complex genetic risk based on your genes, cumulatively, and single-gene genetic disease risk that’s quite dramatic but also quite rare. So we knew that some people had mutations that traveled in their family that put them at greater risk for cardiovascular disease. But we also know that routine cardiovascular disease, the biggest killer in the developed world, is highly genetic, it runs in families. We knew there was a lot to be said, but we were unable ten years ago to offer much on a clinical basis to worried family members. Now there are multiple types of testing that can be offered to help people understand and personalize their risk. It’s very useful but it’s very unfamiliar to most clinicians in cardiology; it’s not something they’ve been working with for all of their lives. A lot of cardiologists are happy to work in tandem with genetic counselors to make decisions about where testing is appropriate and to help with test interpretation.
One of the things that has fueled the growth [of genetic counseling], and it’s one of the fastest growing fields in America, is that, as study after study tells us, physicians are not comfortable talking about genetics and interpreting genetic tests. That changes over time, though. So oncologists weren’t comfortable with BRCA1 and BRCA2 testing in 2004, but we’ve been doing it now routinely for many years. They are obviously more comfortable than they used to be. Obstetricians weren’t comfortable with some of the newer genetic tests in 2013 that are used during the prenatal period, and there was some bad advice, some really tragically bad decisions that came out of the unfamiliarity of that group with the available tests and what they actually meant [see here for more]. No question that those are now very routine tests. These are smart people and they get more comfortable.
But in the rollout, as genetics moves into clinical care, there’s a bridge where genetic counseling can be incredibly helpful. Because 1) genetic counselors fill in knowledge areas that aren’t necessarily something that has been available in medical school; and 2) what we do is very time consuming in a way that’s not good for physicians. You can spend two or five minutes with somebody getting permission to do a genetic test, but evidence shows very often that pre-test counseling in certain situations is quite valuable. It’s helpful if people know what they’re getting into, what they’re saying yes to. Even more, post-test counseling can sometimes be quite a process because it’s not just a matter of yes or no on this test, but “What does this mean? We’re not saying you’re sick, we’re saying you have a risk. What does it mean, what should you do with that? You need to contact relatives. Which relatives are at risk? Let’s go through your family history and help you identify which of your relatives are now at risk based on an identified risk. There’s residual risk if you test negative but you’re not out of the woods, because your mother still did have breast cancer, and we haven’t quite figured out if there’s something else going on.”
These conversations can be long, they can be complicated, and if you get them wrong, doing the test can be worse than not doing the test. If somebody walks away thinking, “Oh this means X or Y,” and they’re wrong, that’s worse than just not knowing. Medicine is not set up well right now for long conversations between physicians and patients. Obviously there are exceptions, but I think for the most part, having had a lot of experience observing it, the relationships between genetic counselors and physicians, when they work as teams, which they often do, are very solid. We each have a different role to play and there isn’t a lot of turf battling.
We know that the average physician spends five to fifteen minutes discussing what type of prenatal testing a person would like to consider, and that’s really not enough to make anything other than a quick decision and not enough to understand the pluses and minuses of all the different techniques. It’s not just treatments that get individualized, it’s decisions too. So a woman who is having her fourth kid and is very concerned about how bringing this fourth child into the family is going to possibly weigh on her ability to take care of all of her children and has a lot of pressures in her life may have different needs in terms of what she wants to get out of the test than someone who’s been trying to get pregnant for years. They’re such different contexts — what are you going to do with the information when you get it? Surprisingly, so many years into this process, there’s still a giant role for somebody who’s trained to listen as well as to talk.
Surprisingly, so many years into this process, there’s still a giant role for somebody who’s trained to listen as well as to talk.
Sarah: In your experience, does genetic counseling look different in different parts of the world?
Laura: It’s so different in different parts of the world. First of all, most genetic counselors are in the US and Canada. It’s a field that began here where I teach, at Sarah Lawrence College, in the 1970s, and it’s growing around the world but still the majority of counselors are in the US and Canada, and many of the Canadian counselors trained here. We have very similar practices here as in Canada, with the important exception that they have a national health insurance system. A lot of countries only have a handful of genetic counselors so they don’t necessarily have organizations, or their organizations are smaller and looser. In the UK, for example, genetic counseling is merged together with nursing, and Australia, New Zealand, and the larger Pacific area has one organization for genetic counselors. So it’s not uniform.
Last October, I gave a keynote at the World Congress on Genetic Counseling, and had the opportunity to spend a few days with people from all over the world. If I tell you that genetic counseling is very different in Qatar or in China, you’re not going to be that surprised, but I’m telling you that genetic counseling is quite different in France, and in Denmark, and in England, too. The roles they play, how frequently people interact with genetic counselors, how independently they work, what services are available, what the needs are — there are tremendous differences.
But also the norms are different. In some countries, autonomy is the first amongst equals of ethical principles, and if it’s a choice between allowing someone to control their own decision-making and what a medical professional may think is better for them, or for their family, or for their country, there’s no question that autonomy is what wins. Whereas in other countries, letting a person control their own fate is not the most important thing, and doing the right thing by the larger group might be more highly valued.
Sarah: What might genetic testing and counseling look like in a context where people don’t necessarily know how to read or write? How does informed consent work in such a context?
Laura: It’s something that comes up, not only if a person doesn’t read or write, but also if someone comes into your office and you don’t speak the same language — you’re in the same position, or even worse, because you can still communicate with someone who doesn’t read or write. What we’re trained to do is to express the concepts we’re trying to get across in accessible language. The more you know, the more senior you are in genetics, the more you realize that maybe that doesn’t involve teaching everybody about chromosomes and DNA. Sometimes that’s unnecessary. It involves understanding the passing of traits from parent to child, which honestly, is something that every culture understands. This isn’t a secret that only certain cultures understand — everyone understands that traits pass from parent to child. So you start there and find a way to communicate about that in ways that make sense to them.
It involves understanding the passing of traits from parent to child, which honestly, is something that every culture understands.
It’s a matter of understanding what’s important to the person sitting across from you. And can you get them to communicate that to you, so you can feel comfortable that they’re getting what they need to get, and that they’re making a decision based on what they understand of their own self-interest? It’s obviously harder [with someone who doesn’t read or write], but you can get there. There are many challenges like that: people who have developmental differences, people who speak a different language. It’s a part of the training for everybody and you do to a certain extent have to rely on being able to read people. You need to establish a relationship that goes beyond “I’m going to teach you something” to “Let’s have a conversation where information can go both ways.”
You need to establish a relationship that goes beyond “I’m going to teach you something” to “Let’s have a conversation where information can go both ways.”
Sarah: In contrast to that, what does genetic counseling look like in contexts where there is quite a bit of familiarity with direct-to-consumer genetic testing?
Laura: Direct-to-consumer (DTC) testing is its own world. It can happen that someone does DTC testing and discovers something of clinical significance and then you meet to have this clinical conversation. But it’s actually not all that common. DTC genetic testing like 23andMe is an OK thing to do if you think it would be fun. But if you think you have a clinical question — e.g. “Am I at increased risk for cancer or heart disease?” or “Am I more likely to have this neurological condition?” There are usually better ways to go at this because this sort of DTC testing is still somewhat limited in what it’s allowed to do, and the more medical the result the less they’re allowed to do it. But it’s also harder and harder to talk about DTC testing as if it was one thing, because there are clinical-grade tests you can now initiate online that are absolutely the same test that you’d be getting if you went to a doctor and they ordered the test. There has to be a doctor involved, although often the customer never interacts with the physician. Some of that testing is really quite valuable. But DTC testing very much tends to be associated with high-information, high-education clients. So it’s usually a very different question than “How do I communicate with someone who doesn’t speak the same language or doesn’t know much about the science or doesn’t care?” It’s kind of the opposite.
Sarah: As you know, here at Variant, we are trying to tackle the problem of a lack of worldwide diversity in terms of the populations represented in genetic testing. According to a piece I came across recently, it seems that a lack of diversity in the field of genetic counseling is also an issue, at least in the US. How might the field of genetic counseling act to improve on this front?
Laura: It’s [an issue that’s] front and center in the minds of genetic counselors. At Sarah Lawrence College, we take it very seriously that there are groups underrepresented in genetic counseling. We need more Hispanic and African-American genetic counselors, for example, and we also need more men. We want to have diversity in the classroom and amongst our counselors because, especially in a field where there are historical reasons for distrust and suspicion, it’s very important that people see themselves represented, [as opposed to] a field made up entirely of young, white women lecturing them about their genes.
[E]specially in a field where there are historical reasons for distrust and suspicion, it’s very important that people see themselves represented.
We’re also very aware that there’s a relationship between the lack of diversity amongst medical professionals and the lack of diversity in who participates or who is sought after to participate in medical research of all sorts. For that reason we have the historical artifact of these databases that are not at all diverse and as a direct result our genetic medicine is less valuable to those people who are underrepresented. We have less to say about diseases that disproportionately affect these groups, while we have a lot to say about diseases that run in Ashkenazi Jewish families. When we identify potentially impactful variants in patients from underrepresented groups, we are less able to advise them on what these variants mean for them. And that breeds further mistrust, so it’s a vicious cycle.
[W]e have the historical artifact of these databases that are not at all diverse and as a direct result our genetic medicine is less valuable to those people who are underrepresented.
Sarah: What do you see as some of the major challenges facing genetic counselors today?
Laura: Putting aside the pandemic-specific challenges, one is that there’s so much change within the field clinically. We have to adjust to the growth and changes without losing our core values — a humanistic approach to genetics, never allowing it to become something that is forced on people in a way that could repeat some of the egregious behaviors of genetics from the past. But also on a much more micro level, making sure that people get a chance to make these decisions thoughtfully and are happy with their choices. We need to bring those core values into fields where tests are being ordered with no pre-test, because that’s now the exception, rather than the rule. When things are done on a larger scale, how do we cope with all of that growth and all of those changes and still make sure that it’s done the way we believe it should be?
Analogous to that is the need to specialize while also maintaining our core role as generalists. To use the example again of breast cancer susceptibility testing, as doctors get really comfortable with that, they no longer need us to handle the routine stuff. What they need is for us to handle the unusual, the systemic, and the thing that sits outside of their silo. One of the benefits of being a genetic counselor is that we sit outside of silos and can say, “You know what, this condition is also connected to something over here in ophthalmology, for example.” Doctors are much more siloed than we are, so staying generalists and staying humanists is important.
I think that the most difficult challenge in genetic medicine in the next decade and beyond is to fight for equality of access. Both on a reproductive level and on a treatment level, when you look at what genetics is poised to bring into medicine, you think about that either happening for everyone or only for a small subset of people. If the latter is the norm, instead of something that is a force for good in the world, it turns genetics into something that takes to a new level our existing health inequities.
I think that the most difficult challenge in genetic medicine in the next decade and beyond is to fight for equality of access.
Sarah: Finally, what are some other challenges you see for the field going forward?
Laura: If you’d asked me six months ago what it was going to be like in the future, I would probably not say “Six months from now I’m going to spend all my time on the couch!” But I think that genetic counseling will become more skewed toward something that occurs less around routine events because as the routine use of genetic testing in a medical setting gets more and more common it’s harder to incorporate human interactions into every one of those. So it will revolve more and more around results testing for unusual results or positive results.
If people do start getting whole-genome sequencing or large segments of their genome sequenced preventatively as a part of healthy preventative care — which is still an open question — then I think genetic counselors will be a part of that. They’ll be part of helping people navigate an understanding of the difference between a diagnosis and a risk. This difference is really hard for people to understand because it’s not intuitive, whatever your level of education. Being given information about relative risk is something that usually has to be put into context, for everyone.
