Note: Genome podcast transcripts are provided for your reading pleasure. The transcripts are produced from speech recognition software and may contain errors.
Misha: Hello and welcome to the Genome podcast. I’m Misha Angrist. I work at the Initiative for Science and Society at Duke University, and I’m the editor of Genome magazine. Our first ever guest is Jehannine Austin. She is associate professor in the Department of Medical Genetics at the University of British Columbia. She holds the Canada research chair and translational psychiatric genomics and is the graduate adviser for UBC genetic counseling training program. I wanted to talk to her for two reasons. One, she is a bad ass in the field of genetic counseling, and two, she is a wonderful conversationalist.
Jehannine: If we’re lucky, we might get some toilet flushing things as well.
Misha: Always good ambient noise.
Misha: So how and when did you become aware of genetic counseling as a thing?
Jehannine: So I think it was around 1996, and I was a co-op student actually at Duke University.
So I was doing my undergrad at Bath in the UK. But you know we did eight-month placements and I happened to be a Duke.
Misha: Where you in Alan Rose’s lab?
Jehannine: I was.
Misha: I was too in 1989.
Jehannine: OK. So we didn’t overlap. No no.
Misha: OK and I met all these wonderful people from Bath.
Jehannine: So ah ha that’s really funny.
Misha: So you were studying biochemistry?
Jehannine: Yeah. Undergrad in biochemistry. And so yeah I was in and Ann Saunder’s piece of Alan Rose’s lab and yeah I literally heard somebody saying blah blah blah, the genetic counselor, and the words just kind of lodged in my brain like you know cha-ching, this is a thing. And then I met the genetic counselor later but I don’t actually remember her name, which is kind of tragic. But yeah it seemed like it would be something that might be a really good fit for me. So I actually when I went back to the UK and finished my undergrad degree I looked at the possibilities for training in the UK which at the time was Manchester basically and I contacted them saying “Hello, I’d like to be a genetic counselor.”
But the response that I got at the time was that they weren’t really looking for people like me they were looking for people who already had clinical training. So looking for nurses and so on. So I kind of put it on the back burner when I did a Ph.D. instead as you do. And then came back to it later. So yeah, that was how it went down.
Misha: And your Ph.D. was in?
Jehannine: Molecular genetics of schizophrenia and bipolar disorder basically. So yeah, I perhaps naively thought that OK so genetic counseling isn’t an option for me. And at the time I guess I wasn’t ready to look outside of the UK, you know developmentally I just wasn’t there yet for anything beyond any eight-month placement. So I thought that by doing human genetics Ph.D. perhaps I would get a chance to sort of interact with real life people and didn’t really of course. I think I went out and collected controlled samples once from a blood donating clinic but that was about it. But yeah it really did fuel my passion for psychiatric disorders, and it was really through that process that I became more aware of my own family history of psychiatric illness, and aware as well of the need for genetic counseling in that space because my family was asking me questions like, “So is schizophrenia genetic? What does that what does that mean for us? What does that mean for you?” And I didn’t have the language, I mean my Ph.D. didn’t give me the language to be able to explain this sort of very deep narrow focused stuff. I was doing in a way that was going to be useful for my family or other families like mine. So that was what drew me over to North America to do my genetic training in the end.
Misha: So back in the Jurassic when I was studying genetic counseling you know there were only a handful of programs.
Misha: And they their reputations preceded them.
Misha: Oh you should go to Berkeley if you’re interested in you know psychotherapy and psychosocial aspects.
Jehannine: So what did I get what did I get from it. Well so actually I knew very little. Honestly I kind of went into it somewhat blind. So I did meet with a genetic counselor while I was doing my Ph.D. Shelley Doogan who graduated from UBC and had good things to say about it.
And after my little stint in North Carolina I knew that I didn’t really want to go and spend another two years in the U.S. I mean I recognized fully that the U.S. is a very large place in North Carolina is a teeny place within that but I felt, I felt that Canada would be like a potentially good option and so I didn’t speak French. So my options were UBC and Toronto. And as it turns out they do have sort of somewhat different perspectives on things but I wasn’t terribly aware. Yeah. And so I ended up in Vancouver.
Misha: When you were thinking about Canada versus the U.S. to do this were you thinking about sort of professional prospects for genetic counseling or genetic counseling training or you were just thinking about cultural?
Jehannine: Mostly cultural stuff. You know I at the time I really liked Canada’s place in the world and this was back when we had a liberal government before there before the conservative government took over. Now we’re back to liberal. But yes I like it. I like Canada’s position sort of on the world stage if you like.
Misha: It’s looking pretty good from where we’re sitting.
Jehannine: Yeah. So yeah that was a part of it. Also there’s other very sort of not terribly intellectual reasons but Vancouver was attractive because I’m a scuba diver and you know actually scuba diving around Vancouver was Jacques Cousteau’s second favorite place in the world to scuba dive, just a little known fact but it’s true. So that was another draw for me.
It was one of those things you know I landed in Vancouver I fell in love with the place immediately and basically decided within a month of having arrived that I was going to have to try and find a way to stay there and apparently I managed. So that’s that’s been good. Yeah.
Misha: I’m interested in your perception of the field when you were training. And the evolution.
Jehannine: Yeah. Oh, let me go.
So I think I approached the field of genetic counseling sort of to enter is a student fairly naively. So I was coming at it from an idealistic perspective I suppose. I mean you know so having seen the need that there was for amongst amongst the population of people who live with psychiatric disorders and their families so much guilt, shame, stigma, fear, around explanations for cause that it just felt to me intuitively but genetic counseling was ideally placed to address and nobody seemed to be doing anything about it which seemed to me to be at a terrible, terrible profound disservice. So really I was drawn into genetic counseling with that motivation and I didn’t really know very much about like the structures that genetic counselors operated within I suppose so. I mean it didn’t it didn’t sit terribly well with me honestly. And I struggled actually as a student I ended up graduating profoundly depressed for a number of reasons. But you know amongst them was just feeling the toxicity of the relationships between the M.D. geneticists and the genetic counselors and not feeling like there was any room in within that structure to realize our full potential really as as a group of professionals. And that was really frustrating to me not just at a personal level but because it felt like patients weren’t getting the full benefit of what we had to offer essentially. So I knew when I graduated that I really needed to be in a role where I was way more autonomous than the traditional structures were going to allow.
Unhappily, I’ve managed to create that for myself and also for members of my team now, which is really nice. Yeah. What was the question? I got off on one.
Misha: So you graduated from UBC. You were profoundly depressed.
Misha: And yet you found a way to stay at UBC.
Misha: And to change things.
Jehannine: Yes. For for myself at least. Yeah. So. OK so the way that I made it work for myself was basically by taking half a step outside of medical genetics. So I wanted to be able to stay in Canada. I had to create myself a job that nobody else could do basically because I don’t get any privileges being from Britain although most people think that you do. So jobs for genetic counselors were always going to go to Canadians first. Appropriately.
Misha: So that whole we’re all part of the empire thing is not really.
Jehannine: Not really. So it’s going to have to create myself a job that only I could do. And so obviously that was going to have to be in the area that I wanted to be in anyway which was psychiatric genetic counseling. So that was essentially what I did. I sort of trolled around and spoke to psychiatrists. “Hello, I’m a genetic counselor. Have you ever thought of hiring a genetic counselor to be part of your clinical team?” And the response that I got was “No, what’s a genetic counselor?”
But the second person that I spoke to is actually head of the schizophrenia program at UBC and his response No what’s a genetic counselor got back from me. Well would you like to meet for coffee and I’ll tell you all about it. So we did. And he basically offered me a job on the spot I think I bowled him over with my naive enthusiasm and but the problem was he didn’t actually have clinical money with which to offer me a job so he ended up foisting me off on one of his colleagues who was a researcher who had some research dollars. So I this guy Bill Honer I ended up hiring me basically saying I don’t know who you are or what you’re doing but apparently I’ve got to give you a job so here’s an office, here’s a computer do whatever it is you think you’re going to do. So I started doing some really sort of resource non-intensive research project so I did like a little web-based survey asking people with psychiatric disorders in their families what they thought about cause and risk and all of that stuff. I did a tiny little crappy pilot study where I provided genetic counseling for people. It was like, so how was that? Basically. But you know just like small things that were doable within the constraints of having no resources basically. And after a few months I met with the guy that I’d actually been paying my salary and he was like “What have you been doing?” So I showed him some of it and he was like whoa. And basically ended up becoming one of my biggest champions and mentors and to this day actually remains a champion of mine so he’s a psychiatrist. So I’m really that that’s the long and short of it is that I found that. So you describe medical genetics as being at the bottom of the totem pole within medicine and then within medical genetics. My experience as a student was that genetic counselors run the bottom rung of the ladder there you know within the context of medical genetics. So you know shit rolls downhill.
Misha: Is that on your business card?
Jehannine: So it didn’t it didn’t feel like a good environment for anyone really. But taking half a step outside into psychiatry suddenly I was unique. And suddenly the skills that I had to offer and my training was valued. And so I would I you know as a brand new fresh face recent grad I was getting invites from all over my province to go and speak at Grand Rounds in psychiatry. And so yeah that was literally you know it just took off from there really.
Misha: So I have to ask you about psychiatry in particular because of course schizophrenia is highly heritable. But there’s been an overwhelming amount of bad psychiatric genetics. I’m wondering when you say I’m going to hang out my shingle and I’m going to I’m going to put myself out there as a psychiatric counselor. What were you able to say in terms of familial risk?
Jehannine: Yeah right. Right. So that’s one of my favorite questions that I used to get back in the day way more than I do now which was which is you know even from genetic counselors which was. But there’s no genetic testing. So, what do you mean, what do you even say to people. And for me I know that would literally just provoke a jaw drop for me because again I remember it like I think whenever we say things like but we don’t know precise numbers to tell people or we don’t have genetic testing we’re approaching the problem using our frame of reference we’re saying unless I’ve got all of these tools and these pieces of information there’s nothing that I can do that’s a valuable use for patients from the patients frame of reference. That’s bullshit from the patient’s frame of reference if you’re talking about psychiatric disorders. You’re talking about people who are thinking it’s my fault I have schizophrenia because I smoke way too much pot when I was young. You’re talking about parents who think it’s my fault that my son or daughter has bipolar disorder. There’s something I should have been able to do that would have prevented this. You’re talking about very basic. So some of these questions that we like to imagine that people are coming to genetic counseling with which are about what the gene can I have a test. What’s the risk. These are intellectual and that’s not that’s not the rule. That’s not the end of it like the intellectual is what people can easily articulate for us. But those intellectual questions are always driven by emotional stuff underneath. People don’t want to know just names because they’re like they have but it’s because they if they’re feeling afraid of being blamed they’re feeling guilty they’re feeling a shame that we’re you know all of these emotions is what’s driving it. And we can address those emotions really effectively.
We’ve got data proving it even without being able to offer people genetic testing. So you know to me the I know this is heresy within the genetic counseling community but my perspective on probabilities. Well first of all risk does not equal probability. We talk about you know what are the risk estimates. No what it’s pairing recurrence rate estimates risk is entirely subjective. We cannot objectively numerically quantify it. You know that with the risk and probability are not synonyms. So what we provide. I think expertise in helping people understand what the probabilities are. But in terms of the perceptions of the severity of the outcome which is another can piece of that risk concept. That’s what the patient brings to that dynamic. Yeah. So no there’s an awful lot that we can do that’s incredibly useful which I would say is the root of what genetic counseling is all about that we don’t we don’t need to be able to provide precise numbers for and that we don’t need to be able to offer genetic testing.
Misha: Let’s talk about non-directiveness.
Jehannine: Are you just trying to make me twitch?
Misha: I wish we had video because that was a beautiful twitch. Were you taught to be non-directive and maybe we should define that.
Jehannine: So maybe we should why don’t you go ahead.
Misha: Here’s some rope Misha, have fun.
Jehannine: You know I’d love to hear your definition of non-directive. It’s one of my favorite things.
Misha: It was really dogma. I guess that genetic counselors should never betray an opinion. And so when a patient asks, “What would you do and what should I do with this risk or recurrence rate information this probability that I will have a child with such and such a disease. What would you do?” And the non-directive approach philosophy said that we were not allowed to answer that question that we were essentially to deflect it and turn it around.
Misha: And you say you have to make that decision in accord with your values.
Jehannine: Lovely, thank you, beautiful definition. So I have enormous, this wouldn’t surprise you probably but I have enormous issues with the concept of non-directed mass. I was a voracious reader of everything philosophical about our field. You know I don’t actually remember getting taught much sort of explicitly concretely in my training about non-directiveness, and this is what it is. It was more, yeah. But definitely we got this stuff around like if somebody asks you what do you do this is how you deflect. That did not sit well with me in a way that I couldn’t adequately articulate at the time. Of course now as you know with however many years worth of experience I can tell you exactly why I didn’t sit well with me. And it’s about it basically acts as a barrier to rapport and establishment of that therapeutic alliance which is actually we have really good evidence is the foundation for any and all of the good patient outcomes that we can expect from the interactions that we have with patients. So if what you’re doing is you’re engaging in it in a one on one interaction where the point is that to get these great outcomes empowerment whatever we’re looking for in order to get there we need therapy to quiet the trust. We need rapport we need all of that stuff. Somebody says well what should I do when you go kaboom and slam the door. Well I can’t tell you that because you know that then you’ve completely undermined the entire thing. So I think that like so I don’t know if you read “Telling Genes” the Alexandra Minna Stern book about the history of genetic counseling.
Jehannine: Oh it’s so worth a read.
Misha: It’s on my Amazon list.
Jehannine: It’s great. Now have a read because the way that she talks about when non-directiveness came from as a concept is just is beautiful. Briefly it’s really you know if you if you actually get to the root of it it’s around our fear of being put in being conceptualized in the same way you know eugenics bucket essentially. Right. So non-directiveness I think is a very shorthand way of saying if somebody comes to us to talk about pregnancy we’re not going to say you should terminate. So you know if that’s what we mean if defining non-directiveness a genetic counselor will not say you shouldn’t have babies. Yeah of course a genetic counselor should never say that. But that’s if somebody says to me I don’t know whether to have this test or not I’m never going to say to them well that’s your decision I hope like that’s basically saying I can’t help you with that. And that’s my job is to help you with that. So you know to me on the background of having established therapeutic alliance and rapport and all of that sort of thing hopefully I’ve managed to establish something about the individual’s like value systems what matters to them and so on. So I might say something to them like well you know if it was me that was trying to decide whether or not to have this particular test this is how I would think about it these are the things that are important to me in my life right now. They may or may not be the same as what’s important to you and you’ve told me this matters so perhaps it would be different or the same for you but this is how I would approach thinking about it. And so I’m not telling people you should do this but you know in terms of decisions are we the test but I am trying to offer some guidance in terms of how to think about making that decision if that’s problematic for people.
Misha: At some point that sort of dogmatic insistence has it receded?
Jehannine: Yes it has. I think that we’ve gotten far another so many reasons I hate the phrase not to miss because. So. So as well. It’s unknown right. It’s like what is genetic counseling. It’s non directive. OK so what are we then like what is it that we do that’s in the positive frame. Like it’s very I think well what we really mean I think when we say no directive is that we promote patient autonomy there’s only trying to say it’s just more words. And but I think for accuracy that’s really what we need to be talking about. Point number 99 about why I hate not directiveness. It’s I am struggling for what that isn’t bullshit. Can’t find one so I’m going to go with that.
Misha: So good word.
Jehannine: So because of course we do we do help people. So in the in the context of psychiatric genetic counseling for example we know that things like smoking lots of cannabis particularly when you’re young or using crystal meth these are things that can you know increase a person’s vulnerability for developing psychosis.
Misha: Now you tell me.
Jehannine: Sorry, Misha. So if I’m sitting with somebody who’s saying that they’re really concerned about their chances for developing schizophrenia which is in their family, let’s say, Yes I’m going to tell them that they should avoid using cannabis and crystal meth. Yes I am.
Misha: So another thing that always sort of stuck in my craw about it was that the clinicians were never bound by this you know.
Jehannine: Again that comes from the historical where it’s from you know so that the M.D. geneticists coming from a purely medical background where you know yeah we expect physicians to be you know to be to advise them to be you know paternalistic essentially you know to sort of provide that guidance whereas genetic counseling was you know the beautiful love child of the medical school of thought you know that that approach but also psychology.
So we’re bringing these two pieces together we’ve got the registry in client centered approach Mary together with this more medical model. And you know so we’ve got these beautiful beautiful offspring but we just don’t really know how to describe it properly and non-directiveness isn’t appropriate to my mind you know and in prenatal genetic counseling yes we tell people that we should they should be taking folic acid. Yes so we do we do get involved in providing people with guidance and that is appropriate. If what we care about is our patients’ best interest but what we also care about is autonomy. I mean truly I think that in terms of a philosophical approach to patients we most closely allied with midwifery, which is also about promoting patient autonomy.
Misha: So for as long as I can remember there’s been a mantra. We need more genetic counselors. How have we gotten there? I guess I guess what I’m really asking is about sort of the business model how do you create more genetic counselors and pay them.
Jehannine: So things have changed actually quite dramatically in the last few years. So I think historically we’ve been relatively conservative as a profession about not wanting to train too many people in case there weren’t enough jobs. You know people when they graduated.
Misha: Has that ever been true, though?
Jehannine: Well I don’t know because you know my perspective has always been that you know this is no this is not new. That jobs that are advertised represent only the tiny tip of the iceberg in terms of the jobs that are actually out there and that are available. So in my own case you know I my job wasn’t advertised I created it. You know it’s harder to go out there and convince people I’ve got this great experience and skill set that could be really useful in your context. But you know I truly believe that the world is quite literally our oyster. There’s so many more there’s so much more capacity for genetic counseling jobs out there we just have to make them. And the thing is we are responsible for that. You know some yes sometimes people are going to see value and say we would like to hire a genetic counselor and they’ll write the job description for us and we can apply for it. Lovely. But other times now we need to show people that what we can do and how we can be useful in that setting. But there’s enormous untapped potential for genetic counseling jobs. But even just taking that away even just taking advertised jobs we have more of those at the moment than we have graduating genetic counselors. So you know that inflection point has passed. This is why we are working so hard right now as a profession to expand the number of training slots in existing programs and to expand the number of programs. Yeah because you know I think where we in society are all now on the same page in terms of we need to do this.
Misha: In the Canadian system genetic counseling is fully recognized.
Jehannine: And sorry I’m laughing.
Misha: So I hear from counselors in the States who say you know we’re still roaming around looking for billing codes. Essentially it’s the psychiatry problem how do we get a third party to pay us for talking to people.
Misha: What good can that do. That’s not a procedure.
Misha: That’s not a prescription yes.
Misha: So what is it like in what’s it like in Canada.
Jehannine: Yes so I think you know people tend to imagine Canada as being you know this utopia where things just work. Sorry to burst people’s bubbles but we also have issues. So I mean we have a problem of scale. I think in Canada. So whereas you know U.S. measures its numbers of genetic counselors and thousands we measure I was in hundreds. So this is a problem. We also deliver health care in Canada on a province by province basis. So any kind of like recognitions licensure type we have to be done on a state by state basis or province by province basis. And we just have very small numbers basically. So that presents challenges in terms of regulation. We’re working on it. But yet critical mass is more of an issue I think in Canada than it is in the US. Yeah which is one of the reasons that I have devoted my volunteer energies towards NSGC rather than CACG see you know there’s just there’s critical mass in the U.S. to actually make a difference which I just you know I’ve not felt that we really haven’t Canada yet.
Misha: What made you want to be president of NSGC and did you have ambitions grand or otherwise and did you realize them?
Jehannine: Yes I had ambitions grand and I don’t think I’ll ever know if I realized them because they were…So what I what I wanted to do was help genetic counseling. I wanted to empower genetic counselors. Right. Ideally what we spend our time doing is empowering our patients. Pro-autonomy that will join me which is kind of ironic when you consider that most genetic counselors actually don’t feel particularly empowered autonomous. So I came into the presidency wanting to inspire really I suppose genetic counselors to recognize that we do have power the way that you know the only reason that you’ve there’s that wonderful quotes about you know the only way that people can take away powers of give it away you know so we have the power to change some of this. Yes there’s history yes there’s infrastructural issues and you know but we you know we have to consent to being subjugated is a strong word to use. But I’m just going to use it. We do have a lot more power than we recognize I think. I mean that’s shifting which is nice. So it was a really I wanted to say to people that I’m really proud to be a genetic counselor. I think that our skill set is unique in a very important and special way. We have enormous potential to make a really profound difference in healthcare. And yes it’s just talking so we need to we need to tell people why that’s so important. We need to be measuring the outcomes of what we do. We need to not be afraid of that because it’s actually incredible from the research that my team has been doing. We do some really amazing things. Let’s own it. Let’s go out and squawk to people about that.
And you know I also talked a lot in my incoming presidential address about my own experiences with depression and anxiety. You know I used to think that I couldn’t possibly be a leader because you know I was ashamed of my own experiences. I felt it marked me as a liability or a you know liability of a potential leader like you know we imagined leaders being strong and infallible and all of this stuff and I have been very fallible. So I wanted to sort of show please don’t other me don’t set me apart and think I’m better than you. I’m not I’m you. But if I can do it so can you. So can you we all can do this and we need to do this not just for ourselves for our patients it’s that it’s all about patients. They need to benefit from what we have to offer and they’re not going to be able to do that unless we’re out there you know advocating for ourselves. So that was my really great grand goal was to try and create a cultural shift where we don’t you know externalize things as much where we where we take on the structures and the hierarchies and saying no, this is not OK. This is this is what I need. I need to spend 45 minutes per patient actually not 15 minutes because I care about making a difference for them. And that’s the amount of time I need to do that. So I didn’t go into the presidency with whether I’m going to complete task A, task B and task C and those are going to be nice and measurable. And here is the evidence that I completed those tasks. So I don’t have that, I’ll never have that. And I think I’m OK with that. But it’s I desperately want to continue encouraging us to move in a direction where we’re embracing your own power.
Misha: Can I get you to engage in reckless speculation about the future? You actually spoke about it that you should have a family physician and you should have a family GC.
Misha: How do we make that reality.
Jehannine: Well I think it would be very nice if there was a simple logically stepped path towards making that happen but I think it’s actually going to take activity on a number of fronts. You know from the very basic helping people know who we are and what we do and how we can be helpful and by people I don’t just mean the public I also mean you know the rest of medicine because the rest of medicine still has misconceptions about who we are and what we do. I mean in psychiatry I’ve been you know speaking for years about what it is that we can offer and how you know we can we can really make a meaningful difference to people.
So I shared a case example yesterday it in the context of my talk where basically the outcome of the genetic counseling I provided was for a patient to engage for the first time essentially and a whole bunch of self management strategies that really minimize the impact of her bipolar diagnosis on her working life. So her mental health actually was improved as a result of the genetic counseling just talking no testing provided. So really meaningful positive outcomes. That was nothing about pregnancy and it was nothing about chances for kids to be affected. And again no genetic testing provided so helping people to understand that I think is a really key important piece so you know in grand rounds that I would do for psychiatry I would present this case example and I would get psychiatrists saying Oh that’s wonderful that’s absolutely great. And then raise their hands and say well how do I refer my pregnant patients to you. So. So these associations that we have with the term genetic counseling run deep you know so and it’s it takes work to try and dislodge some of that but we need to do it. It’s important it’s important that we do.
Misha: Last question. So there were all these sort of novel places where genetics is happening, direct to consumer and increasingly people getting their own exomes and genomes. Companies that hire genetic counselors pay them by the hour to counsel by phone or Skype. What do you make of all of that?
Jehannine: It’s fabulous. I mean you know I think that you know this is this is what we need to do. We need to we need to infiltrate as many as many different areas of health care and related industries as we possibly can because you know as I’ve said I like our skill set is unique and it’s incredibly transferable. You know we’ve seen how profoundly genetic counselors are being valued by industry. Hooray this is great. We are valuable. And I think the more that we are seen as having value in other domains this will trickle back down to the clinical sphere. We’re already seeing that starting to happen I think which is good for us as a profession. But again it always has to come back to the patients. It’s critical to patients that they have access to what we have to offer because nobody else can do what we do.
Misha: Great. Thank you so much.
Jehannine: No problem. Pleasure.
Misha: Thanks to Jehannine Austin for setting such a high bar right out of the gate. And thanks to you for listening to the Genome podcast. Don’t forget to check out our magazine which comes out quarterly and is available online for absolutely free at genomemag.com. It’s also available by mail. Just go to genomemag.com and click subscribe at the top of the page for a free subscription. Talk to you next time.