Yale Psychiatry Grand Rounds: January 15, 2021

Transcript

• 00:00Thank you and welcome everyone before
• 00:02we begin this morning's grounds,
• 00:03I want to take a moment and
• 00:05acknowledge the ongoing events that
• 00:07are taking place in Washington DC.
• 00:09Last week, a group of insurrectionist
• 00:11marched on our nation's capital attempted
• 00:13to undermine our constitutional process,
• 00:15destroying federal property
• 00:16and murdered a police officer.
• 00:18Some of these individuals did so openly
• 00:20under the banner of a white nationalist
• 00:23and white supremacist organization.
• 00:25The images that it's insurgent
• 00:26mob are indelibly seared into
• 00:27our collective consciousness,
• 00:29including the Confederate flag
• 00:30waving within our capital in
• 00:31the details that are emerging,
• 00:33such as the removal of panic buttons
• 00:35from Congresswoman Presley's
• 00:36office prior to the attack.
• 00:38Patient even darker picture of what occurred.
• 00:41Well, all of us hope for a speedy
• 00:43and safe transition of power.
• 00:44I want to acknowledge that many
• 00:45of us may be traumatized and just
• 00:47say if you're in need of support,
• 00:49please reach out to Cindy Crew Stoehr to
• 00:50other members of our Department leadership.
• 00:56I think we'll laugh, pause.
• 01:04And then welcome again if we can try
• 01:07to put this all aside and be present
• 01:09for a little bit in a different space,
• 01:12acknowledging that that may be hard.
• 01:16It also gives me great pleasure
• 01:17to be able to introduce a friend
• 01:20this morning, Janine Austin.
• 01:21Janine is the executive director of
• 01:22the BC Mental Health and Substance
• 01:24Use Services Research Institute to
• 01:26professor in psychiatry medical genetics
• 01:28at the University of British Columbia,
• 01:30where she holds the Canada Research Chair
• 01:32in Translational Psychiatric Genomics,
• 01:33who research involves studying the impact
• 01:35of genetic counseling for people with
• 01:37psychiatric disorders in their families.
• 01:38She founded the world's first specialist
• 01:40psychiatric genetic counseling
• 01:42service that is when an award for
• 01:43its impact on patient outcomes,
• 01:45in addition to peer reviewed publications,
• 01:46she's written a book.
• 01:48One awards for teaching leadership
• 01:49and research.
• 01:50She's a member of the College of the
• 01:52Royal Society of Canada and a Fellow of
• 01:54the Canadian Academy of Health Sciences.
• 01:56Through my work with her on
• 01:57the ISP G Education Committee,
• 01:59I can also attest that she is
• 02:01an extraordinary educator and
• 02:02a wonderful colleague.
• 02:03Please join me in welcoming Janine Austin.
• 02:07Thanks so much David. Yeah and yeah,
• 02:09so I'm based in Vancouver, Canada.
• 02:11As you just heard and so I've been
• 02:13watching events South of the border here
• 02:15with great consternation and concern.
• 02:17So thank you very much for that opening
• 02:20David and I will do my best over the
• 02:22next little bit of time that we get
• 02:25to spend together to provide a bit of.
• 02:28Distraction entertainment even
• 02:29yeah so thank you for that.
• 02:31Yeah and I think you know in the
• 02:34spirit of that sort of thing I'd like
• 02:36to begin by acknowledging that I'm
• 02:39speaking to you today from Vancouver,
• 02:41which is actually the traditional
• 02:43unceded ancestral territories
• 02:44of the Coast Salish peoples.
• 02:46And that actually includes the Musqueam's,
• 02:48Squamish and slavers, who's nations?
• 02:50So as a as a as a settler who's
• 02:53learning and wanting to sort of
• 02:56uphold and protect and celebrate the.
• 02:58Indigenous peoples of this country.
• 02:59I think it's just important that
• 03:02you know to acknowledge that that
• 03:04this is where I am at at the moment.
• 03:06OK, so I'm going to see if I can
• 03:09screen share with you all so that you
• 03:11can look at my delightfull slides.
• 03:14Hang on one second and so also
• 03:16just just in in disclosures.
• 03:18It's just past 7:00 AM here and I am not
• 03:21necessarily the world's best morning person.
• 03:24So if I start mixing my words up,
• 03:27please be please be gentle with me.
• 03:31OK, here we go,
• 03:31so hopefully you can see my title slide.
• 03:33David,
• 03:33can you give me a thumbs up if you can.
• 03:36Perfect thank you.
• 03:37OK,
• 03:38so um,
• 03:38I would like to talk to you this
• 03:41morning about clinical applications
• 03:42of psychiatric genetics and
• 03:44specifically psychiatric genetic
• 03:46counseling in relation to that.
• 03:48Yeah, so before we get going at all,
• 03:51I have no financial interest
• 03:53in any commercial entity that
• 03:55gets mentioned or not today.
• 03:57Yeah so.
• 03:59And what I thought I'd like to talk
• 04:01with you about today is basically
• 04:02just to ensure that we're all starting
• 04:05from the same place together by
• 04:07reviewing what we currently know about
• 04:09genetics with psychiatric disorders.
• 04:10I'm going to keep it super high level
• 04:12and super Brief because I want to
• 04:14retain most of the time that we have
• 04:17to talk about the more substantive
• 04:19or meaty important pieces which would
• 04:21be discussing how important it is
• 04:23for families to understand what the
• 04:24causes of psychiatric disorders and
• 04:26to discuss the outcomes of genetic
• 04:28counseling for psychiatric disorders.
• 04:29And to consider what the implications
• 04:32of that might mean for applying genetic
• 04:35testing in this context basically.
• 04:37Yeah,
• 04:38so let's start at the beginning
• 04:40because that is usually a good place
• 04:43to start with reviewing what we know
• 04:46about the genetics of these conditions.
• 04:49And this is really for my
• 04:51amusement more than anything else.
• 04:54So it's a cartoon of, you know,
• 04:57scientist standing around a jigsaw
• 04:59puzzle with three billion pieces saying
• 05:01I think I found a corner piece and
• 05:04for the longest time this really did
• 05:06very accurately represent where we
• 05:08were at in terms of understanding the
• 05:10genetics of psychiatric disorders.
• 05:12I do like to think that we've come
• 05:14a little way since since since this
• 05:16really didn't capture in encapsulate
• 05:18everything between you and so this,
• 05:21this is, I think one of the you know.
• 05:24Celebrated images in the psychiatric
• 05:26genetics community and so for
• 05:28those of you in the know.
• 05:29This is a Manhattan plot.
• 05:31For those of you don't
• 05:33really know what it is.
• 05:35Basically it's a way of
• 05:36representing Association studies.
• 05:37So along the X axis,
• 05:39you're looking at chromosome
• 05:41number and along the Y axis.
• 05:43It's like the degree of statistical
• 05:45significance of Association of a variant
• 05:47with the the condition of interest.
• 05:49So the higher the peak that you see,
• 05:52the more significant the P value essentially.
• 05:55And anything that surpasses that
• 05:56red horizontal line that you can see
• 05:59there at the bottom is a value that
• 06:01surpasses genome wide significance.
• 06:03So it is called a Manhattan plot,
• 06:05because theoretically, these are.
• 06:07These pictures are supposed to
• 06:08look like the Manhattan skyline.
• 06:10You know, lots of very tall buildings,
• 06:13lots of Rachel peaks.
• 06:14So the sad,
• 06:15sad little joking psychiatric genetics
• 06:17community for for many years was
• 06:19that we didn't have Manhattan plots.
• 06:21We had Omaha plots because
• 06:23there weren't any peaks.
• 06:24It was all.
• 06:25Latin music anyway,
• 06:26so this image is so celebrated because
• 06:29it was basically the first one
• 06:31where they were really any number of
• 06:33substantive peaks above that red line, right?
• 06:36So nowadays,
• 06:36so you'll see from the date at the top there.
• 06:40This is from 2014,
• 06:41and so nowadays,
• 06:42as my PhD supervisor maker Donovan
• 06:44likes to say it's just taller,
• 06:47greener and denser.
• 06:47So it's just a lot more of those
• 06:50variants that are surpassing
• 06:51that threshold for genome wide
• 06:53significance nowadays, but yeah.
• 06:55And I know your eyes are all going to
• 06:57that really tall one in the middle and going.
• 07:00What is that?
• 07:01I know they are.
• 07:02That's that's the major
• 07:03histocompatibility complex.
• 07:04And so just so that you know,
• 07:06the tallness of the peak does not
• 07:08mean it plays a big, big role.
• 07:10It just means it's more significant.
• 07:12So that's all that means.
• 07:14So anyway,
• 07:15that's all the single nucleotide stuff,
• 07:17so they're really really tiny tiny
• 07:18variants that can contribute to the
• 07:20development of psychiatric disorders.
• 07:22But there's also more than that, of course.
• 07:24So what you're looking at in this table
• 07:26is different types of variations,
• 07:28genetic variations, that is,
• 07:30that can contribute to psychiatric
• 07:31illness in blue.
• 07:32We're looking at those single
• 07:34nucleotide polymorphism is basically
• 07:35the things that were just showing
• 07:37up on that Manhattan plot.
• 07:38So each one of those peaks would
• 07:40be one of these rows essentially,
• 07:42and what you can see is that those
• 07:45variations are.
• 07:46Really common in the population,
• 07:47but they only make a tiny difference
• 07:49to whether to your vulnerability for
• 07:51developing one of these disorders,
• 07:54but at the top you've got a
• 07:55few lines in purple and these
• 07:57represent copy number variations,
• 07:59so these are bigger duplications
• 08:01or deletions of genetic material.
• 08:03The most famous most well known of
• 08:05which I think in psychiatric spaces.
• 08:07Of course, 22 Q.
• 08:0911, deletion an.
• 08:10So what you can see with these
• 08:12is that they are considerably
• 08:14less common in the population.
• 08:16But when you have one,
• 08:18it makes a much bigger difference.
• 08:20Much bigger contribution to your
• 08:21vulnerability for developing
• 08:22one of these conditions,
• 08:24couple of things to draw your attention
• 08:26to is that although not all of the
• 08:29lines have multiple disorders listed
• 08:31in them in that second column,
• 08:33I think it's very fair to say that they
• 08:36they shouldn't need to update this slide.
• 08:39Essentially that they should have,
• 08:40so the variations don't seem to
• 08:42to contribute to risk for only
• 08:44one specific discrete condition.
• 08:46Instead,
• 08:47it seems that genetic variation
• 08:49contributes to one's vulnerability
• 08:51for developing mental illness broadly.
• 08:53And perhaps it depends what particular
• 08:56combination of things you've got
• 08:59going on that determines what
• 09:01actual diagnosis one might receive.
• 09:04So that was a very brief whistle.
• 09:06Stop tour about what it is we
• 09:08currently understand about the
• 09:09genetics of psychiatric disorders.
• 09:10I want to contextualize that
• 09:12for you because I don't.
• 09:13I know you will know this,
• 09:15but it's just good to say explicitly.
• 09:17Again,
• 09:17these are not conditions that
• 09:18caused by genetic variation alone.
• 09:20To the best of our knowledge, right?
• 09:22So we know that from twin studies, right?
• 09:24So if a condition was entirely
• 09:26caused by genetics,
• 09:26we would know that because
• 09:28we'd see the identical twin
• 09:29concordance rate would be 100%.
• 09:31And of course,
• 09:31we don't see that for
• 09:33any of these conditions.
• 09:35However,
• 09:35what we do see is that the core
• 09:37concordance rates for psychiatric
• 09:38disorders are higher amongst identical
• 09:40Twins than they are amongst non identical,
• 09:42which is what the classic
• 09:44hallmarks that we look for.
• 09:45If we need to to determine whether
• 09:47or not genetics is a contributor.
• 09:49So genetics is a contributor,
• 09:51yes, but it's not the only thing,
• 09:53so I think that's just really
• 09:56important contextual framing here.
• 09:57So where does that leave us in terms of,
• 09:59you know if we're thinking?
• 10:00About genetic applications and
• 10:01for psychiatric disorders,
• 10:02the first thing that we tend to think
• 10:05about is genetic testing, right?
• 10:06So yeah,
• 10:07there's no genetic test with
• 10:08which to establish, confirm,
• 10:10or refine a psychiatric diagnosis.
• 10:12That's just where we're at.
• 10:13And honestly,
• 10:14there's not really gonna be becausw.
• 10:16These aren't conditions that are
• 10:17caused entirely by genetics,
• 10:19so you know,
• 10:19we've got really important role for
• 10:21our experiences on the environment.
• 10:23If you'd prefer to put it that way.
• 10:27So, so secondarily,
• 10:28family history is used clinically
• 10:29at the moment for predicting
• 10:31risk for psychiatric illness.
• 10:32Polygenic risk scores,
• 10:33which, if we've got time,
• 10:35I'd like to touch on at the end,
• 10:37or matter really hot debate at the moment,
• 10:40but they're actually already available
• 10:41on in a director consumer fashion.
• 10:43In fact, I got an email This morning from a
• 10:46gentleman sending me his polygenic risk score
• 10:48for bipolar disorder and asking, you know,
• 10:51if we could talk about it because he wants
• 10:54to understand more about what that means.
• 10:57So yeah, this is this is a a clinical
• 11:00reality at the moment and then copy number
• 11:02variation which we just briefly talked about.
• 11:0522 Q for example.
• 11:06So testing for those kinds of things is of
• 11:09the most utility in the context of family
• 11:11members of people known to carry them,
• 11:14or people who have psychiatric illness and
• 11:15other problems and multisystem conditions.
• 11:17But there's a movement in
• 11:19the literature at the moment.
• 11:20An argument that people are making that
• 11:22maybe we should be thinking about screening
• 11:24for CN bees and everybody with schizophrenia,
• 11:27let's say.
• 11:28So there are clinical practice guidelines
• 11:30suggesting that that's as you will know,
• 11:32that that that that's first here
• 11:34test in the context of autism,
• 11:36but but what about schizophrenia?
• 11:37Maybe maybe we should be doing it there.
• 11:40Some people are arguing.
• 11:41And then just very briefly to mention,
• 11:44because it is a type of genetic
• 11:46testing that relates to psychiatric
• 11:48disorders pharmacogenetic testing.
• 11:49Obviously,
• 11:50you know,
• 11:50in the in the psychiatric space this
• 11:53is an intense interest just because
• 11:55of the clinical issues that we know.
• 11:57Trial and errors going through,
• 11:59you know psychiatric medication
• 12:00trials can be just very,
• 12:02very difficult for all involved.
• 12:03Clinicians and patients like and
• 12:05so wouldn't it be nice if we could
• 12:08do a genetic test to predict?
• 12:10You know what would work best?
• 12:12Best for somebody with the least
• 12:14side effects.
• 12:14And so yeah,
• 12:15this is a very very active area
• 12:17of work at the moment of course.
• 12:19So yeah,
• 12:20and that's really all I'm going
• 12:21to say about that,
• 12:22but I think it's just important
• 12:24to acknowledge so, given that,
• 12:26given that there isn't any genetic testing,
• 12:28I've just told you what,
• 12:29is there anything that we can do like what?
• 12:31Why am I even talking to you this morning?
• 12:34Like surely we should just hang up now,
• 12:36right? No no, stay with me please.
• 12:38So because genetic counseling
• 12:39is not genetic testing OK,
• 12:41I I know that there's a sort of a popular
• 12:43conception that genetic counseling is
• 12:45something that we do for pregnant.
• 12:47In an you know,
• 12:48or if you're going to get BRCA
• 12:50testing or something like that.
• 12:51And of course you know you can
• 12:53kind of definitely apply genetic
• 12:55counseling in those contexts,
• 12:56but that's like the tip of the iceberg.
• 12:58Really, there's way more to it than that.
• 13:02So I'm going to tell it like this.
• 13:04This sounds really trivial and boring,
• 13:06but hopefully I'm going to illustrate
• 13:08for you later why it's not OK.
• 13:10So understanding that psychiatric disorders
• 13:12are themselves not usually inherited,
• 13:13but what that we can we can inherit
• 13:15is a vulnerability to psychiatric
• 13:17illness that can actually be a
• 13:19profoundly powerful thing for people
• 13:21with these conditions in their
• 13:23families to hear about. And again,
• 13:25I'm going to illustrate that for you later,
• 13:27understanding that its genes and
• 13:29environment that usually work
• 13:30together to produce illness to you.
• 13:32That may sound very trivial.
• 13:34To me it did initially,
• 13:35but my experience of like working
• 13:37with families and helping them to
• 13:39understand that shows me that from
• 13:40the family experience perspective,
• 13:42this is not trivial at all.
• 13:45And then of course it's called
• 13:47genetic counseling and so counseling
• 13:49around the emotional issues that
• 13:52typically attach to explanations
• 13:54for cause of illness is critical.
• 13:56So we're talking about things like guilt,
• 13:59blame, shame, fear, stigma,
• 14:00all of that good stuff.
• 14:02Well, not good stuff, terrible stuff.
• 14:05But counseling around those issues
• 14:08can be profoundly impactful.
• 14:10So let's talk a little bit
• 14:12about more that stuff.
• 14:13Let's talk more about the importance
• 14:14of families of understanding cause,
• 14:16and I'm just going to
• 14:17share some quotes with you,
• 14:18actually,
• 14:19and this is going to be absolutely
• 14:20familiar to all of you that practice
• 14:22clinically or ever have, right?
• 14:24So you know.
• 14:24But just to put them out there, because
• 14:27I think it's important grounding for us.
• 14:29Alright, so there's this thought.
• 14:30There's always that thought that
• 14:31maybe you're just a bad person.
• 14:33Maybe you're just lazy.
• 14:36With mental illness,
• 14:36it's so hard to know what you did wrong,
• 14:39right?
• 14:39So the assumption there is
• 14:40that you did something wrong,
• 14:42but it's your fault somehow, right?
• 14:45And then so that was people who live
• 14:47with psychiatric disorders themselves.
• 14:48But of course psychiatric
• 14:49disorders affect families.
• 14:50And so I I've spent a lot
• 14:52of time at this point,
• 14:53working with families,
• 14:54and I have yet to meet a parent
• 14:56of a child with a psychiatric
• 14:58disorder that doesn't feel like
• 15:00it was their fault in some way.
• 15:01And that can be for different reasons.
• 15:03I'm going to illustrate two of those here,
• 15:05so this is a quote from a mother
• 15:07of a child with Asperger syndrome,
• 15:09but it could be a mother of a child with
• 15:12any or father for that matter condition.
• 15:14So she says.
• 15:15The feeling that we somehow
• 15:16cause this is strong.
• 15:17This happens because we are judged
• 15:19harshly due to our child's behaviors.
• 15:21I was lectured by family members
• 15:23about her parenting skills.
• 15:25So she's feeling guilty about parenting,
• 15:26you know?
• 15:27So people judging her and thinking that
• 15:29you know because she's not a good parent.
• 15:31That's why her child has stuff.
• 15:33But people also feel guilty about genetics,
• 15:34as illustrated by this quote.
• 15:36It came from my side.
• 15:37I've got the guilt.
• 15:38If I hadn't had him,
• 15:40he wouldn't be like that.
• 15:41If I'd known more at the time,
• 15:43I probably wouldn't have had
• 15:44any children because of what
• 15:46I've seen happen to him.
• 15:47I didn't think about this
• 15:48being passed on when I
• 15:50was 23 years old.
• 15:51You think this will never happen to me,
• 15:53so this father doesn't have bipolar himself,
• 15:55but his his child does.
• 15:57And when it emerged in his child,
• 15:59the first thing that he thought was Oh
• 16:01my God, this is what aren't Rose had.
• 16:03This is exactly the same symptoms
• 16:05and so therefore it's my fault for
• 16:07passing on bad genes, quote unquote.
• 16:09So there's all sorts of ways
• 16:11in which people's explanations
• 16:12for cause of illness have,
• 16:13like really profound impact
• 16:15on how they feel about.
• 16:16And as I hope to show you later,
• 16:19how they react to having one of
• 16:21these conditions in the family.
• 16:23So how does this relate to
• 16:25genetic counseling?
• 16:26Well, I'd like to share with you the
• 16:29definition of genetic counseling from the
• 16:31world's largest and oldest professional
• 16:33Association for genetic counselors,
• 16:35of which I'm an ex president.
• 16:38So the it's actually defined as a
• 16:40process of helping people to understand.
• 16:43Yes, information and adapt
• 16:44counseling to the medical,
• 16:46psychological,
• 16:46and familial implications of genetic
• 16:48contributions to disease right
• 16:50doesn't say anything about pregnancy.
• 16:52Doesn't say anything about genetic testing.
• 16:54Either it's talking about helping people
• 16:56understand and adapt to these things,
• 16:59and so I'm a bit of a like a.
• 17:03I don't know if Heretic is the right word,
• 17:06but I I like to push boundaries and to
• 17:09encourage people to think about things
• 17:11in different and challenging ways and to me,
• 17:14this definition of genetic counseling
• 17:15fits beutifully underneath the
• 17:17umbrella definition of psychotherapy.
• 17:19Um, so you know,
• 17:20and you can read the definition
• 17:22for yourself here,
• 17:23but this is the definition from the
• 17:26American Psychological Association from 1990.
• 17:27And so you know,
• 17:29people like to.
• 17:30Think about psychotherapy as necessitating
• 17:33long-term relationships with people.
• 17:34Or,
• 17:35you know,
• 17:35people tend to think that
• 17:37psychotherapy equals psychoanalysis
• 17:38or psychodynamic therapy,
• 17:40or something like that,
• 17:42which of course it isn't.
• 17:44So I see,
• 17:45genetic counseling is a very circumscribed,
• 17:47time limited form of psychotherapy.
• 17:49But we can argue that at the end,
• 17:53if you'd like to.
• 17:56Anyway,
• 17:56so so so just to give you a
• 17:58bit of a grounding here.
• 18:00So what do we actually do in genetic
• 18:02counseling?
• 18:02Well really,
• 18:03it's about helping people to make
• 18:05meaning to make meaning of how,
• 18:06not just tell them information
• 18:08about how genes and experiences
• 18:09act together to contribute to the
• 18:11development of these conditions.
• 18:12And we've developed a visual analogy,
• 18:14but we found to be profoundly
• 18:16helpful for people,
• 18:16and I'm sharing that with you here.
• 18:18So the concept is that everybody
• 18:20has a mental illness jar and that
• 18:22there are two different types
• 18:24of vulnerability factor that
• 18:25you can use to fill your jar.
• 18:27Those genetic factors which
• 18:28are represented here.
• 18:29By the orange balls and
• 18:31environmental vulnerability factors,
• 18:32which are represented here by
• 18:34the Blue Pyramids.
• 18:36And we talk about how an episode
• 18:38of mental illness happens when
• 18:39the jar fills all the way to
• 18:41the top essentially right.
• 18:42So you can see in this picture
• 18:44that the amount
• 18:45of genetic vulnerability
• 18:46stays the same overtime,
• 18:47which reflects what we know from real.
• 18:49You know, from the research that's been done,
• 18:52but what can change over time is how much of
• 18:54that environmental vulnerability in the jar.
• 18:56So obviously, if you've got a CMB going on,
• 18:59we have different pictures that
• 19:00represent that as a larger orange ball.
• 19:02And if we're talking about
• 19:04large environmental stresses,
• 19:05covid for example.
• 19:06We have a version where we've got
• 19:08a large pyramid in the job, right?
• 19:10So so there's all sorts of different
• 19:12ways of making this really
• 19:13meaningful and personalized for
• 19:15people search up circumstances.
• 19:17We talk with people about how everyone has
• 19:18some genetic vulnerability to mental illness.
• 19:20Um, a few of us are going
• 19:22to have very little.
• 19:23Few of us are going to have an awful lot.
• 19:26Most of us are gonna actually
• 19:28be somewhere in the middle.
• 19:29I mean,
• 19:30that's really what we know from the
• 19:31Genome Wide Association studies that
• 19:33most of these single nucleotide
• 19:35polymorphism's are so common in
• 19:36the population that we're all
• 19:37going to have some of them,
• 19:39so that may again sounds trivial,
• 19:40but for people who live
• 19:42with these conditions,
• 19:43that can be revolutionary, you know.
• 19:44So you mean that I'm not just
• 19:46biologically defective in some way.
• 19:48You know that kind of idea,
• 19:50so it can be profoundly
• 19:51destigmatizing for people to hear
• 19:53this and to really integrate it.
• 19:55But for me,
• 19:56the best part about genetic counseling
• 19:58for psychiatric disorders is that.
• 20:00You don't just get to talk
• 20:02about how people get sick,
• 20:04which is what happens if you're
• 20:05counseling about huntingtons or
• 20:07Down syndrome or cystic fibrosis.
• 20:08In the context of psychiatric disorders,
• 20:10we get to talk about how people
• 20:13can get better.
• 20:14So in the context of this John model,
• 20:16the way the way that we talk
• 20:18about it is that you can't change
• 20:20the genetic stuff in your job.
• 20:22That's what this picture is representing,
• 20:24and there may be some things that
• 20:26you can do to remove some of the
• 20:28environmental stuff, like for example,
• 20:30if you're smoking an awful lot of cannabis.
• 20:32Let's say that is within your.
• 20:34Theoretically,
• 20:35at least that's within your
• 20:36control occasionally.
• 20:37If you're in an incredibly stressful
• 20:39environment that's contributing to
• 20:40your negative mental well being,
• 20:41it may be possible to remove that.
• 20:44Maybe, but acknowledging that can
• 20:46be incredibly hard,
• 20:47but it's possible.
• 20:48But in addition to that,
• 20:49like in the third picture that
• 20:51you're looking at the final panel,
• 20:53the jar actually has two
• 20:55rings sticking on top of it,
• 20:57and what they're doing is making
• 20:59the job taller so that it can
• 21:01accommodate more of that environmental
• 21:03stressor stuff without getting full.
• 21:05So we talk with people about sleep,
• 21:07exercise, social support,
• 21:08nutrition,
• 21:08finding more effective ways to
• 21:10manage stress as protective factors,
• 21:12and of course for people who've
• 21:14had a diagnosis medication can
• 21:16play a really important role.
• 21:17As a protective factor,
• 21:19we also help people to identify
• 21:20the more sort of individual level
• 21:22things that might work for them.
• 21:24Spending time with a pet.
• 21:27You know mindfulness meditation,
• 21:28which doesn't work for me and I'm happy to
• 21:31tell you about why later if you'd like.
• 21:33But basically it triggered the panic
• 21:34attack 'cause everybody else looked so
• 21:36peaceful and serene and I couldn't stop
• 21:38the thoughts coming through my head.
• 21:40So yeah, didn't work great for me,
• 21:42but so many people over the years have
• 21:44told me that it really works for them.
• 21:46So it's helping people to identify those
• 21:49things that that that work for them.
• 21:51So that's just a very brief intro
• 21:53to what actually goes on now.
• 21:55What I'd like to do is share with
• 21:57you 2 case examples that hopefully
• 21:59illustrate that more thoroughly for you
• 22:01and what the what the outcomes can be.
• 22:04So of course I've changed him like key
• 22:06things to protect people's identities,
• 22:08but everything that I'm sharing
• 22:09with you really, truly happened.
• 22:11OK, so yeah,
• 22:12so the first case I'd like to
• 22:13share is about somebody they always
• 22:15called Bob and Bob had a diagnosis
• 22:17of schizoaffective disorder and he
• 22:19was not doing well psychiatrically.
• 22:21He was actually in hospital.
• 22:22Because he'd attempted suicide.
• 22:24Recently he was actually in the
• 22:25hospital fighting with his psychiatrist
• 22:27about medications.
• 22:28The psychiatrist was of course
• 22:29saying if you want to get better
• 22:31and you'd like to get out of here,
• 22:33then you're gonna have to take this stuff.
• 22:35And Bob was saying not really interested.
• 22:37So there was a whole bunch of
• 22:39frustration going on and not much else,
• 22:41but he'd seen a post up in
• 22:43the hospital for one.
• 22:44It was a research study providing genetic
• 22:45counseling in that context and it said,
• 22:47do you have a diagnosis of schizophrenia,
• 22:49schizoaffective or bipolar?
• 22:50Would you like to better understand
• 22:51why you have your illness?
• 22:53If so,
• 22:53give us a call so that's
• 22:55exactly what he done.
• 22:56So I was there to meet
• 22:58with him because of that.
• 22:59So I like to do my genetic counseling,
• 23:01not just sort of sitting down
• 23:03and getting straight into it.
• 23:04I like to do a little bit of chit chat,
• 23:07get to know you at the beginning, right?
• 23:09So I sat down with Bob to do my chit chat,
• 23:12get to know you and it turns out
• 23:14that he actually had a graduate
• 23:15degree in psychiatric genetics,
• 23:17which I have to.
• 23:18So we had this complete nerd out session
• 23:19about where you at the World Congress
• 23:21on psychiatric genetics and this,
• 23:23you know you were all wasn't it good,
• 23:25you know?
• 23:26Anyway,
• 23:26so we had this lovely nerd out session,
• 23:29but what that did to me was basically
• 23:31make me assume that I knew what his
• 23:34explanation for cause of illness would be,
• 23:36and so that's the fundamental question
• 23:38that you ask in genetic counseling.
• 23:40No matter what the condition,
• 23:41can you tell me what you understand
• 23:43to be the cause of your illness?
• 23:46And I almost didn't ask him
• 23:48because of my assumption.
• 23:49However, reptilian genetic counselor
• 23:50brain kicked in and I did choke
• 23:52out my question and his response
• 23:54absolutely floored me, he said.
• 23:56Bad life decisions and I was like.
• 23:59But what we were just talking about
• 24:01your graduate degree I don't understand.
• 24:03And he said, Oh no, I understand
• 24:05that at the level of the population,
• 24:08genetics is really important.
• 24:09It's just that I know that in my own case
• 24:13it was this thing that I did that thing.
• 24:15The fact that I smoked way too
• 24:18much pop when I was an adolescent.
• 24:20That's why I specifically
• 24:22have this condition.
• 24:23So another thing that we do in genetic
• 24:26counseling obviously is take a detailed
• 24:28three generation family history.
• 24:29In this case focused on
• 24:30psychiatric disorders.
• 24:31So I did that with Bob and of course he
• 24:34was able to give me all the information,
• 24:36but he hadn't really sort of considered it.
• 24:39In light of why he was,
• 24:40he had the condition that he did so.
• 24:43Actually both of his parents are affected,
• 24:45not specifically with schizoaffective,
• 24:46but with closely related conditions.
• 24:47So I draw drawing out the family
• 24:49history and I'm shading people in to
• 24:51illustrate their affected status,
• 24:53and I turn my.
• 24:54You know picture of his family around
• 24:56and show it to him together with the
• 24:58jar model that we I just showed you
• 25:00and he burst into tears and to use his words.
• 25:03He started talking about how he
• 25:04felt for the first time like a
• 25:06weight of guilt is being lifted.
• 25:08He started to say things like I
• 25:10can see for the first time that
• 25:13perhaps it's not all my fault.
• 25:15Right,
• 25:15so basically that's why I'm
• 25:16talking to you today.
• 25:17'cause he's been living with his
• 25:20diagnosis for 20 years and it took me an
• 25:23hour and a half to get to a place that was.
• 25:26Quite profound for him.
• 25:27And again I want to show you that
• 25:30there's no genetic testing here.
• 25:32We're not talking about pregnancy,
• 25:33but this is genetic counseling.
• 25:35But the story doesn't even end
• 25:37there because he was participating
• 25:38in this research study we followed
• 25:41up with people one month later,
• 25:43and when I did that with him,
• 25:45he was able to explain to me that
• 25:47once he understood that there was a
• 25:50biological contribution to his own illness,
• 25:52then a biological treatment
• 25:54started making sense.
• 25:55So we'd stop fighting with the psychiatrist
• 25:57about medication he was taking them.
• 25:58He was out of hospital and he was
• 26:00doing much better psychiatrically
• 26:01than he had been in years.
• 26:04So for me this is this is a.
• 26:07This is a big one.
• 26:09We actually designed an entire research
• 26:11study based on Bob's experience to try
• 26:13and work out if genetic counseling does.
• 26:15In fact, if we can quantitatively measure
• 26:17the change in medication adherence
• 26:18associated with what we're doing anyway,
• 26:20I can tell you about that
• 26:22later if you're interested.
• 26:23But anyway, for the for the haters and
• 26:26doubters amongst you who are going, Oh yeah,
• 26:28well, that's all very well, isn't it?
• 26:30But you do genetic counseling and he needed
• 26:33to be convinced that genetics was important,
• 26:35but what if it was the other way round?
• 26:38What about if somebody knows it's all just,
• 26:40you know, thinks it's all genetics,
• 26:42what then got you?
• 26:43Don't worry, that's my next case.
• 26:45So OK, so this one is about somebody
• 26:48I always like to call Jane.
• 26:50And Jane had a diagnosis of bipolar disorder
• 26:53about which she was very out at work.
• 26:55So everybody knew they were writing
• 26:57articles about in the company newsletter.
• 26:59You know, to do self congratulatory
• 27:01back patting about look,
• 27:02how good we are at supporting
• 27:04people with mental illness.
• 27:06She loved her work and she's
• 27:08really good at it.
• 27:09So when she came in my first
• 27:11impression of her was like,
• 27:13wow, this is 1 empowered lady.
• 27:15However, her mental health was not great.
• 27:17Her physical health was not great.
• 27:19She was quite overweight.
• 27:20She had sleep apnea.
• 27:22And as you can imagine,
• 27:23with bipolar disorder,
• 27:24that's not a great combination necessarily,
• 27:26and so she was having to take
• 27:27time off the job that she loved
• 27:29because she was having periods of
• 27:31like depressione that just really
• 27:33weren't particularly well managed.
• 27:35So I told him the fundamental
• 27:37genetic counseling question tell
• 27:38me what you understand about your
• 27:39illness and so she felt her illness
• 27:41was caused entirely by genetics.
• 27:42And when I tried pushing like so,
• 27:43can you know things like can you
• 27:45tell me what was going on for you?
• 27:47Do you think there's anything
• 27:48else and she's like?
• 27:49No, I know it's just genetics.
• 27:51That's why I'm here.
• 27:52So hurry up lady,
• 27:53let's get on with it.
• 27:54So I tried a different tack and I
• 27:56tried asking her can you tell me
• 27:58what was going on when you first
• 27:59got sick and she listed a litany
• 28:01of things that like shouldn't
• 28:02happen to people in a lifetime,
• 28:04let alone in the space of six months,
• 28:05which is really what happened.
• 28:07Her.
• 28:07So she was able to say that these
• 28:10happened around the time she got sick,
• 28:12but she hadn't really put them
• 28:14together as having anything to
• 28:15do with the onset of illness.
• 28:17If you like so I'm,
• 28:18you know, did family history.
• 28:19There's really nothing there,
• 28:20so I'm, you know,
• 28:21working with her with the family
• 28:23history and with the Jar model
• 28:25pictures that I showed you and I had
• 28:27to work quite hard to get her to,
• 28:29you know.
• 28:29Latch on to the idea that it's not
• 28:31just genetics and I had to try
• 28:33a number of different ways,
• 28:35and when I actually got there the
• 28:36way I knew I got there was because I
• 28:39literally watched the blood draining
• 28:40out the bottom of her face in her eyes.
• 28:42Kind of going like this,
• 28:43and when I asked her what was going on,
• 28:45she said. So you mean to tell me it's
• 28:48not just genetics and I was like?
• 28:51She was horrified Becausw she
• 28:52felt that because she you know
• 28:54she's already out at work,
• 28:55but she felt that people would judge
• 28:57her now like now she understood
• 28:59that it wasn't just genetics.
• 29:01She felt she would.
• 29:02You know people would see it as
• 29:04being more culpable, basically.
• 29:05Um, so thing I omitted to tell you
• 29:08was that she was there because she
• 29:10was terrified that her daughter was
• 29:12going to develop bipolar disorder.
• 29:14In her words, any day now.
• 29:15So she'd developed bipolar herself at 21.
• 29:17Her daughter just turned 21,
• 29:19so in her mind, it was inevitable.
• 29:23So I worked with a really hard to talk
• 29:25about how there might be more that,
• 29:27you know she could do to protect
• 29:29her own mental health if we accept
• 29:31that it's not just genetics,
• 29:32maybe there's more we can do.
• 29:34Sleep, nutrition,
• 29:34exercise,
• 29:35good social support that stuff because
• 29:37really all she was doing was taking
• 29:38the psychotropic medication that
• 29:40had been prescribed by her family
• 29:41doctor when she was first diagnosed.
• 29:42She'd never had a psychiatrist,
• 29:44and I've tried to help her see that,
• 29:46you know.
• 29:48You know, if it's not all genetics,
• 29:50yay means your daughters, not.
• 29:51It's not a foregone conclusion,
• 29:53right?
• 29:55However, I wasn't really
• 29:56sure she heard any of that,
• 29:58and then it got even worse.
• 29:59So I got to.
• 30:00End of the session and she was
• 30:02participating in that same research study,
• 30:04so there was some questionnaires to
• 30:05complete at the end and we prearranged
• 30:07that she would do that with one
• 30:09of the members of my research team
• 30:10because I had somewhere else to be.
• 30:12So I thank you for participating.
• 30:14I told her how nice it was to meet her
• 30:16and stuff and I had my hand on the door
• 30:19handle to get out and she said to me,
• 30:21the other thing is,
• 30:22if we known it was anything
• 30:23other than just genetics,
• 30:25we would have had more children
• 30:26and she burst into tears.
• 30:27So I tried to stay and talk to
• 30:30her about it and she did this.
• 30:33Again, reason she said anything was
• 30:34because she knew she didn't wasn't
• 30:36going to have to talk about it.
• 30:37Um, so yeah,
• 30:38you may be wondering why on Earth
• 30:40you telling us this horrible story
• 30:42like this isn't a good thing.
• 30:43Well,
• 30:44actually kind of is because
• 30:45within a couple of weeks Jane
• 30:47had actually changed her GP.
• 30:48the GP was working with her on ways
• 30:50to better manage her sleep apnea so
• 30:52that her sleep wasn't so disrupted
• 30:54to better manage her mood stuff.
• 30:56She had a psychiatrist for the first
• 30:58time who was helping her with trying
• 31:00a new medication which already seemed
• 31:02to be perhaps working better for the
• 31:03higher than the other one had done.
• 31:05She was taking control of our
• 31:07own physical and mental health.
• 31:09So she was working towards
• 31:11eating and sleeping better,
• 31:12but most excitingly to me she
• 31:14signed up for mindfulness meditation
• 31:17classes together with her daughter.
• 31:19So and again,
• 31:20she ended up in a place where her
• 31:22mental health was much better
• 31:23than it had been for her in years.
• 31:25Ended up taking less time off the
• 31:27job that she loved, blah blah,
• 31:29blah, blah, blah, right again.
• 31:30There's no genetic testing.
• 31:31There's that we're not talking
• 31:32about pregnancy,
• 31:33but this is the sort of impact
• 31:34that that genetic counseling can
• 31:36have in these environments.
• 31:37Sorry,
• 31:37I get so excited about talking
• 31:39about this stuff.
• 31:39I've actually gone on for
• 31:41longer than I intended to,
• 31:42so I'm gonna try and speed up a bit.
• 31:44Sorry bout that.
• 31:45We are going to do a very quick
• 31:47aside because I want to point out
• 31:48that if you're paying attention
• 31:50with both of these two stories,
• 31:52what you will have no tist.
• 31:53Is that people change their behavior
• 31:55right in response to what we did
• 31:57in terms of the genetic counseling.
• 31:59Now behavior change to reduce the
• 32:01risk of common complex conditions
• 32:02is one of the like Golden grails
• 32:04of genomic medicine, right?
• 32:06This was a publication that came out in
• 32:08The Lancet by Victors Owl a few years ago,
• 32:11now in which he talks about
• 32:12how the US health care system
• 32:14could save 600 billion dollars
• 32:16or something ridiculous
• 32:17in the next 50 years.
• 32:18If we could only help people to
• 32:21change their behavior to reduce
• 32:22their risk for heart disease
• 32:24by telling them how risk they.
• 32:25Up the risk they were at
• 32:27based on their genetics.
• 32:29Now this piece got slammed
• 32:31for a variety of reasons,
• 32:32but the point being that that this
• 32:35that that this is the the idea.
• 32:37The concept is is potentially real,
• 32:39that if we could help people to
• 32:41change their behavior to reduce the
• 32:43risk for common complex disease
• 32:45like heart disease like diabetes,
• 32:47like psychiatric disorders,
• 32:48there's a potential for
• 32:50enormous economic benefits.
• 32:52However,
• 32:52we know and I'm just flashing up a
• 32:54bunch of studies here in culminating
• 32:56with the Cochrane review that
• 32:58genetic information does not get
• 33:00people to change their behavior.
• 33:02It just doesn't work.
• 33:03So how on Earth am I having the gall to
• 33:06sit in front of you this morning and say,
• 33:09hey, our genetic counseling
• 33:11does though about like how?
• 33:12How can I?
• 33:13How can I say that?
• 33:15Well,
• 33:15genetic counseling is not the same as
• 33:18genetic information and to my mind
• 33:20if we want to help people change
• 33:22behavior we need to do two things.
• 33:24We need to embed the genetic
• 33:26information that we're providing in a
• 33:28coherent story of etiology that gives
• 33:30people a sense of control or agency.
• 33:32So if you imagine saying
• 33:33to somebody how you have,
• 33:35you know your your high
• 33:37genetic risk of diabetes.
• 33:38So you need to change your behavior
• 33:40like where's the connection there.
• 33:42You just you know what people hear is
• 33:44genetics equals foregone conclusion.
• 33:46Right,
• 33:46so we need to marry that with
• 33:48the piece about like that's what
• 33:50exactly what the jar model does.
• 33:52It shows people that although
• 33:54genetics is a component,
• 33:55that doesn't mean you're doomed.
• 33:57There's things you can do about this, right?
• 33:59So that's giving people that
• 34:01sense of control or agency,
• 34:02and then Secondly,
• 34:03we need to address their emotions that
• 34:06can act as a barrier to behavior change,
• 34:08right?
• 34:08So, for Jane,
• 34:09that story I just shared with you,
• 34:11she had to confront all of
• 34:13that regret around.
• 34:14Not having had more children.
• 34:16Right,
• 34:16she held on so hard to this
• 34:18idea that her condition was
• 34:19caused entirely by genetics.
• 34:20Becausw it meant that she didn't
• 34:22have to feel that regret,
• 34:23but it was also acting as a
• 34:25barrier to her engaging in those
• 34:26behaviors that were going to protect
• 34:28a mental health going forward,
• 34:30right?
• 34:30So this is not stuff that you can just give
• 34:33people information and expect it to work,
• 34:35it doesn't.
• 34:36So anyway,
• 34:37that was a very brief aside,
• 34:39let's get back to the main thrust
• 34:41of things here,
• 34:42so psychiatric genetic counseling is
• 34:44something that hopefully I've illustrated,
• 34:46is is something that can be applied to
• 34:48anyone with any psychiatric disorder,
• 34:50diagnosis and other family members.
• 34:52It's really all about psychotherapeutic
• 34:54Lee walking the final line between
• 34:56helping people see it's not your fault.
• 34:58You know it's not your fault
• 35:00even if you smoked
• 35:01a ton of cannabis, still not your fault,
• 35:03but there are things that you can do
• 35:06to better protect your mental health.
• 35:08Perhaps for the future, right?
• 35:09So that's a fine line,
• 35:11but it's walkable and I'm going to share
• 35:13data with you in a second to demonstrate
• 35:15that so it's impactful for recipients.
• 35:17And as you can probably tell,
• 35:19I kind of love it,
• 35:21so it's extremely rewarding from the.
• 35:23From there, it's from the therapists
• 35:25or clinicians perspective,
• 35:26so let's talk a little
• 35:27bit about the outcomes.
• 35:28Because yes,
• 35:29I've shared with you some case studies,
• 35:31but if you're anything like me,
• 35:33you'll be going like yes,
• 35:35but anecdotes or not, the data,
• 35:37so telling how it actually effects outcomes.
• 35:39Great, let's do that.
• 35:40So, as you heard at the beginning,
• 35:42we actually found it the world's
• 35:44first specialist psychiatric genetic
• 35:46counseling clinic here in 2012,
• 35:47and we didn't just pull it out of thin air.
• 35:50I've actually been studying
• 35:52whether or not this could be.
• 35:54Something helpful for people for
• 35:55God with 20 years at this point,
• 35:58which is quite terrifying to realize.
• 36:00But yes,
• 36:00so anyway we we established this
• 36:02clinic based on a body of research
• 36:04data that we generated over the years.
• 36:07The first thing was you know.
• 36:09Well,
• 36:09actually on the first thing we
• 36:10did was study whether people
• 36:12interested in genetic counseling
• 36:14for psychiatric disorders.
• 36:15They were then we looked at our
• 36:17existing clinical genetics service to
• 36:19see whether people were being referred
• 36:21and that blue one that you can see there.
• 36:24Basically The upshot of that was.
• 36:26To say that they're not being referred
• 36:28to existing general genetics clinics,
• 36:29we found that in 40 years of service
• 36:31this program had only seen 288
• 36:33people with either a personal or
• 36:35family history of schizophrenia,
• 36:37which obviously is like saying
• 36:38we've essentially seen no one.
• 36:40So yeah, so OK.
• 36:41So,
• 36:41given that people are interested
• 36:43and they're not being referred
• 36:44to the existing general clinic,
• 36:46what about if we provide it
• 36:47on a specialist basic basis?
• 36:49Can it be helpful?
• 36:50So what you're looking at here,
• 36:52top left is just the very first
• 36:54tiny little pilot study that I did.
• 36:56Choose one of these things that you
• 36:58look back on and kind of go on good,
• 37:01you know,
• 37:01because it was literally just me provide.
• 37:03We didn't have any funding like
• 37:05I was fresh out of grad school.
• 37:06This was literally just me providing
• 37:08genetic counseling for people and then going.
• 37:10How was that?
• 37:12Nobody had done anything like that before,
• 37:14and so it was.
• 37:15It actually got published.
• 37:17Since then, you'll be delighted to
• 37:19know we've done some high quality work.
• 37:22So we did some qualitative work
• 37:24looking because people said,
• 37:25well,
• 37:25what can you really say to people anyway?
• 37:28You can't tell him anything definitive.
• 37:30There's so much unknown,
• 37:32so we studied Clock qualitatively.
• 37:33How people responded to that and they
• 37:36completely get it found it really helpful.
• 37:38Anyway,
• 37:39we looked at how people
• 37:40respond to risk estimation
• 37:42in the context of psychiatric
• 37:43disorders and fight.
• 37:45It's all culminated really with
• 37:46a randomized control trial of
• 37:48psychiatric genetic counseling for
• 37:49that for people with schizophrenia,
• 37:51bipolar and schizoaffective which showed.
• 37:53But yes, there were.
• 37:54There were some really important and
• 37:56meaningful positive outcomes for people,
• 37:58so that was really the data
• 37:59that we used as a basis for
• 38:01establishing our specialist clinic.
• 38:03It's a provincial service.
• 38:04We've currently got 1.3 FT.
• 38:05Es of genetic counselors.
• 38:07They're embedded within the
• 38:08general genetics clinic and we
• 38:10provide service for men and women,
• 38:11because, again,
• 38:12people still think that this is
• 38:14just all for pregnant ladies.
• 38:15It's not Bob, for example.
• 38:18For for any personal family history
• 38:20of any psychiatric disorders and when
• 38:22I'm doing grand rounds in Vancouver,
• 38:24I get lots of questions.
• 38:25Like you know, we play a game like?
• 38:28What about eating disorders?
• 38:29Yes, eating disorders.
• 38:30What about oh CD, yes, OK.
• 38:32Oh CD,
• 38:32what about trichotillomania you know so?
• 38:34So yes we will see any psychiatric
• 38:36diagnosis and we we we accept self and
• 38:39health care provider referrals are
• 38:41appointments tend to be about 1 to 2
• 38:43hours and we do a one month post appointment.
• 38:46Follow up with people and typically.
• 38:48There isn't any genetic testing
• 38:49that we provide, you know,
• 38:50unless it looks like somebody's family
• 38:52history is 22 kewish or something.
• 38:53In which case,
• 38:54of course we do.
• 38:56So we've actually evaluated the outcomes of,
• 38:58you know,
• 38:59in the real world clinical kind of setting,
• 39:01and so this is the very
• 39:03first publication from.
• 39:04It's just reporting on the data from
• 39:06the first year of their clinical
• 39:08out clinical study essentially,
• 39:09and this is the sort of high
• 39:11level what did we find?
• 39:13So basically we looked at
• 39:14empowerment and self efficacy,
• 39:16and we found statistically
• 39:17significant increases.
• 39:18But as you all know,
• 39:19we have a big enough sample size.
• 39:21You can make any tiny,
• 39:23useless, meaningless,
• 39:23different,
• 39:24statistically significant.
• 39:24So what I'm more interested in
• 39:26here is actually the devalues
• 39:28which relate to effect size like.
• 39:30Is the difference that you're
• 39:31making actually meaningful at
• 39:32the clinical level to anybody,
• 39:34and an approximation is that
• 39:36the value of around .5 ISH is
• 39:38clinically significant?
• 39:39Actually didn't know that devalues
• 39:40came as big as one I had to Google it.
• 39:46So basically an actually in a
• 39:47more recent studies or devalues
• 39:48for empowerment or even bigger.
• 39:50It's, you know, with the larger
• 39:52sample sizes that we have now,
• 39:53it's actually 1.2. So yes,
• 39:56we are making a substantive difference
• 39:58to empowerment and let's just marry.
• 40:00That back to what we were just talking
• 40:02about in terms of behavior change.
• 40:04If you want people to change their
• 40:06behavior to protect their health,
• 40:08they need to be empowered, right?
• 40:09That's a necessity.
• 40:10It's a prerequisite. If you like.
• 40:12And so we're demonstrating that
• 40:13we're doing that really well.
• 40:15Essentially, an at the individual level.
• 40:1686% of people are showing
• 40:18improvement in schools,
• 40:19which is also really cool, I think.
• 40:22We've been because we've got
• 40:24like outcome assessment built in.
• 40:25We've been able to study a whole
• 40:28bunch of different things to see,
• 40:30like what correlates with with outcomes.
• 40:32Essentially, we've got no
• 40:33relationship between patient outcomes,
• 40:35an age, sex, ethnicity, psych,
• 40:37diagnosis,
• 40:37which I think is all really encouraging.
• 40:39It means it works for everyone.
• 40:41We've got no difference in terms of
• 40:44outcomes in for whether people are
• 40:46self or health care provider referred,
• 40:48whether it's an individual
• 40:49or family appointment,
• 40:51or whether a train near observer is involved,
• 40:53so.
• 40:54That's also really reassuring for our
• 40:56trainees because they get anxious about.
• 40:58Well if I'm there.
• 41:00Is that gonna make it look?
• 41:02No?
• 41:02It's fine like, yeah,
• 41:03we've got data to demonstrate that now.
• 41:06However,
• 41:06there is a significant relationship
• 41:08between patient outcomes and
• 41:10baseline empowerment score.
• 41:11Which is kind of interesting.
• 41:13So and I wasn't necessarily
• 41:15expecting to find that,
• 41:17so we just published that.
• 41:19Just can say earlier this year,
• 41:21but it's 2021 now, right?
• 41:23So last year it's in the European
• 41:25Journal of Human Genetics.
• 41:27I think.
• 41:28Basically what we're showing is a linear
• 41:30relationship between baseline empowerment,
• 41:32score and the degree to which empowerment
• 41:35increases after genetic counseling.
• 41:36So people who have lower
• 41:38scores have greater increases.
• 41:40OK, which is.
• 41:41Kind of an interesting observation.
• 41:44So we've also been looking at
• 41:46whether genetic counseling
• 41:47impact treatment adherence.
• 41:49We've just literally just published
• 41:51that like at the end of last year,
• 41:55and so we've got some very
• 41:57preliminary suggestion that
• 41:58perhaps genetic counseling might
• 42:00actually impact mental health,
• 42:02which is really interesting.
• 42:03We've got some data showing
• 42:05that people do report behavior
• 42:08change after genetic counseling,
• 42:09so engaging more in self management
• 42:12strategies and that sort of thing.
• 42:15And actually that paper's not here.
• 42:16That's a maca, ET al.
• 42:18From 2019,
• 42:19I think we've looked at whether
• 42:20various aspects of the genetic
• 42:22counseling session relate to him,
• 42:23like timing your family history
• 42:25if we take it on the phone before
• 42:27somebody comes in to meet with us,
• 42:29versus we do it at the beginning
• 42:32of the session. What impacts out?
• 42:33So basically what we found is
• 42:35if we do it before the session,
• 42:37and I've got all sorts of rationale
• 42:39why or interpretation hypothesis
• 42:41about why this might be.
• 42:42But basically, if we do genetic counseling
• 42:44before we meet with the person for the
• 42:47actual genetic counseling session.
• 42:48We get better outcomes for them
• 42:49than if we do it just with them
• 42:52at the beginning of the session.
• 42:53We've studied the type of room in
• 42:55which the counseling is conducted.
• 42:56You know, because we embedded within
• 42:58a clinical genetics Department some
• 43:00of our interview rooms literally have
• 43:02beds with stirrups in the corner.
• 43:04Where is that?
• 43:04We do have a couple of actually
• 43:06nice comfy counseling rooms,
• 43:07and so we were actually able to study.
• 43:09Do we get any? We don't.
• 43:10Sadly I was very sad about that.
• 43:12It would have been nice if we had a
• 43:14rationale for arguing for nice comfy
• 43:16counseling rooms, but here you go.
• 43:18That's the reality of research people.
• 43:20And then another thing we studied
• 43:22was because we write.
• 43:23OK, this is an important point.
• 43:25Actually,
• 43:25I think people tend to assume that if
• 43:27you're going for genetic counseling,
• 43:29then you're necessarily going to
• 43:30be provided with risk assessment.
• 43:32Your chance to have an affected
• 43:34child is 27.3%,
• 43:34but in fact genetic counseling should
• 43:36be a patient centered intervention.
• 43:38So your your you can offer
• 43:39people that to people,
• 43:41but you shouldn't be forcing it on them.
• 43:43So if they want to know the numbers
• 43:45absolutely, we can do that.
• 43:47But if they don't,
• 43:48maybe we shouldn't be forcing
• 43:49it down the next.
• 43:51So we were able to study whether or
• 43:53whether discussing risk actually
• 43:54related to patient outcomes,
• 43:56and I think I've got something to.
• 43:58And yeah,
• 43:58I'm going to share with you
• 44:00briefly what we found here.
• 44:02So the way that we contract around
• 44:04risk assessment in genetic counseling
• 44:05is that when somebody comes in,
• 44:07we of course ask them what they
• 44:09want to talk about, right?
• 44:11And even if that person says I'm
• 44:13only here 'cause I wanna know
• 44:14what the chances for my child to
• 44:17develop the condition I have,
• 44:18we say great, no problem.
• 44:20Yeah, we can absolutely talk about that.
• 44:22But what we found is really helpful
• 44:24is if we have some sort of shared
• 44:26understanding about what these numbers mean,
• 44:28where they come from,
• 44:29and what we like some framing you know
• 44:31about what we understand about how
• 44:33these conditions arise in the 1st place.
• 44:35Would you know?
• 44:35Is it OK with you if we talk about
• 44:37that first and then we can talk
• 44:39about the numbers in that context,
• 44:41people will invariably say yes,
• 44:43so that's what we do.
• 44:44And then we once we've done that once,
• 44:46we've had the discussion about etiology.
• 44:48We say OK,
• 44:49so they don't talk about numbers now.
• 44:51And what we found is that it doesn't always.
• 44:53Match up,
• 44:54so if somebody starts at the beginning
• 44:56saying yes they don't come out at the end,
• 44:58you're saying yes,
• 44:59this is what we get.
• 45:00We get people who start out saying
• 45:02yes and finish saying yes we get
• 45:04people start saying no and finish
• 45:06saying no. But some people do a flip
• 45:08flopping between right? Any guesses?
• 45:10Or we can't interact coming really.
• 45:11Any guesses as to which group is going to
• 45:13have the biggest increases in empowerment
• 45:15as a result of genetic counseling?
• 45:17I'll give you a moment to consider.
• 45:22This one, so it's the people who
• 45:24initially come in saying yes please.
• 45:26I want numbers and after discussing etiology,
• 45:28so you know what actually I'm good, I don't.
• 45:31I don't need not need numbers,
• 45:33they have the greatest increases and
• 45:35empowerment after genetic counseling and I
• 45:37think that's because they really get it.
• 45:39They're like OK,
• 45:39I can see it's not a foregone conclusion.
• 45:42I can see that there are things
• 45:44that I can do to not prevent
• 45:46but to reduce the risk perhaps,
• 45:48and so they get what you know when
• 45:50people say I only want to know numbers.
• 45:53There only articulating what they're
• 45:54able to articulate what they
• 45:56really mean when they say I want
• 45:57numbers is I'm scared I'm scared.
• 45:58Is there anything I can do about this?
• 46:00I don't want my child have this thing right,
• 46:03so we can so we can address all of
• 46:04that actually without without going to
• 46:06numbers and and so it's really important,
• 46:08I think to make sure that you're
• 46:10addressing people's actual needs.
• 46:12I'm not going to talk about that.
• 46:14'cause I am being bergling on and
• 46:17I really wanna finish so that we
• 46:19can talk at the end.
• 46:21So I'm going to briefly touch on this,
• 46:23consider implications for genetic testing.
• 46:25So I mentioned at the beginning how
• 46:27you can already get your polygenic
• 46:29risk scores for psychiatric disorders
• 46:31on a direct to consumer basis.
• 46:33OK,
• 46:33So what happens is you can get your
• 46:36genetic raw genetic information from
• 46:38testing from 23andMe or ancestry.
• 46:40People like that you can.
• 46:42Upload it into one of a whole
• 46:44bunch of different interfaces.
• 46:46Third party tools which will then
• 46:48generate for you your polygenic
• 46:49risk score for all sorts of
• 46:52conditions including schizophrenia,
• 46:53depression, bipolar disorder,
• 46:55Alzheimer's, you name it right.
• 46:57So yeah, what we're finding is so.
• 47:00This is data from impute me,
• 47:02which is an open source nonprofit
• 47:05tool of this nature, right?
• 47:07And what they're showing is that
• 47:09basically the usage of this service
• 47:11is just basically skyrocketing,
• 47:13right?
• 47:13It's it's?
• 47:14It's really picking up and taking
• 47:16off and of the conditions that
• 47:19are most frequently searched,
• 47:20a whole bunch of them are psychiatric.
• 47:23Look at that, right?
• 47:25This is the top set of.
• 47:28Things that people go there to search for.
• 47:31So we actually don't know anything at all.
• 47:34Basically about how people,
• 47:35why why people do this first of
• 47:38all and how they react or respond
• 47:40once they've got this information.
• 47:42So what you're looking at here
• 47:44is Larissa Peck,
• 47:45who's one of my genetic counseling
• 47:47students in Kennedy Bully,
• 47:48who's a recent graduate who
• 47:50have been working with Anne.
• 47:51This is Lassa focusing in the middle.
• 47:54He's the person who developed
• 47:55this impute me website, you know.
• 47:57Free open source thinking manner
• 47:59which so yeah.
• 48:01And what you're looking at here is
• 48:02the typical way that all of these
• 48:04different websites will will give you
• 48:06data about your polygenic risk score.
• 48:08And so we ask people you know
• 48:10who were going
• 48:11to this website, what they understood
• 48:13about the data that they'd received right?
• 48:15So, and I don't know if you can see
• 48:18there we can do a pop quiz at the end
• 48:20if you like to see who got this one
• 48:23right or wrong or whatever but but,
• 48:25but basically we're finding
• 48:26that people really just don't,
• 48:28although it is in bigger.
• 48:29That's good, but what we're
• 48:31finding is that really, people?
• 48:32To understand the data that they're getting,
• 48:35only 35% of them,
• 48:36and if you think about who's going to this
• 48:38website and getting polygenic risk scores,
• 48:40they're going to be people we would think of
• 48:43as being early adopters really write this.
• 48:45This is the front of the wave of
• 48:47people doing this stuff right,
• 48:49and so if only 35% of them are getting
• 48:52understanding what they're getting.
• 48:54That's a bit worrisome, right?
• 48:56This bit down here is the bit that
• 48:58causes me concern, however, right.
• 49:00We actually used a ninja validated instrument
• 49:03called the impact of Events scale,
• 49:05and it has established thresholds an
• 49:07it's it's obviously anchored onto
• 49:09the genetic test that people had,
• 49:11but it's got established threat
• 49:13thresholds for PTSD and what we found
• 49:15was that people 5% of people who receive
• 49:18polygenic risk scores scored above
• 49:20threshold on this validated instrument
• 49:22full PTSD as a result of receiving their.
• 49:24Legion risk scores,
• 49:25which is kind of terrifying if you ask me,
• 49:28especially once this starts ramping up
• 49:29and more people are going there, etc.
• 49:33So anyway,
• 49:33to summarize,
• 49:34and that hopefully we can have
• 49:36some discussion now,
• 49:37but hopefully I've managed to demonstrate
• 49:40for you that understanding cause of illness.
• 49:42It is really important to people
• 49:44who have psychiatric disorders
• 49:46but also to their family members.
• 49:48And genetic counseling is about more.
• 49:50It's not the same as genetic testing,
• 49:52and it's not the same as just
• 49:54providing information or risk
• 49:56communication when carefully delivered.
• 49:57It can really result in positive,
• 50:00meaningful out.
• 50:00Homes for families and genetic
• 50:02testing for psychiatric disorders.
• 50:04No matter whether it's CNV's,
• 50:06whether it's polygenic, risk scores, etc.
• 50:08My strong argument is.
• 50:10Basically,
• 50:11if we're embarking on any
• 50:12any initiatives like that,
• 50:14we should really be ensuring that it's
• 50:15delivered in the context of evidence
• 50:17based psychiatric genetic counselling.
• 50:19Yeah,
• 50:19I'm going to leave you with a lovely
• 50:22picture of my team who is actually
• 50:24the people that do all of this stuff.
• 50:27Um,
• 50:27yeah,
• 50:27so thank you very very much for
• 50:29your attention and I'd love to
• 50:32hear what you've got to say to me.
• 50:34Yeah,
• 50:34so I'm going to stop by screenshare now
• 50:37so that we can look at each other, yeah?
• 50:41You know, it's still fantastic.
• 50:42Thank you. No problem.
• 50:44I see some hand clapping as icons.
• 50:46We can't give you the full applause
• 50:49that you would deserve if people can
• 50:51post their questions into the chat box.
• 50:54Maybe we can organize from there.
• 50:58Oh, I see the first question.
• 51:01It's could I explain how empowerment is
• 51:03measured in any pointers for clinical use?
• 51:06Yeah, that's a lovely question.
• 51:07Thank you for asking, because yes,
• 51:09I omitted to talk about that.
• 51:11Did my sorry in the studies
• 51:13that we've been doing.
• 51:14We've been using a scale called the
• 51:17genetic Counseling Outcome Scale,
• 51:18which is a very generic name.
• 51:20But actually the construct that
• 51:21it measures is empowerment.
• 51:23So the reason that we so there are
• 51:25of course there are other validated
• 51:27instruments that measure empowerment.
• 51:29But the reason that we chose that one is
• 51:31because it was specifically developed.
• 51:33For use in clinical genetic settings
• 51:35and validated in that context as
• 51:38well so interesting that you should
• 51:40ask about pointers for clinical use.
• 51:43Be 'cause we're actually looking
• 51:46at the moment at.
• 51:48We've been doing some some rash
• 51:51measurement theory stuff with the
• 51:53scale and what we're trying to do
• 51:55with it is to develop it into an
• 51:57instrument that could be used,
• 51:59for example by psychiatrists,
• 52:01to identify people who might benefit
• 52:02most from psychiatric genetic counseling.
• 52:04Because as I mentioned,
• 52:06we demonstrated that people who
• 52:07scored lower on empowerment with
• 52:09the people who benefited most from
• 52:11psychiatric genetic counseling.
• 52:13So yeah,
• 52:13we're working on developing a
• 52:15really brief instrument that might
• 52:17be able to be used.
• 52:19Um, to identify you by by clinicians.
• 52:21People like yourselves to
• 52:23identify people that might benefit
• 52:24from what we have to offer.
• 52:28Jenny looks like Chris Pittenger has
• 52:30a question. Chris Evan if you knew.
• 52:33Yeah thanks, thanks for that really
• 52:35great talk in a wonderful perspective
• 52:37on how to address these issues with
• 52:39patients. I know there's been some
• 52:41discussion I'm most familiar with it in the
• 52:44bipolar literature, but it comes up in some
• 52:46other diagnosis as well.
• 52:48Where genetic risk factors may also
• 52:50provide some benefit. So there's
• 52:51been discussion about how risk for
• 52:53bipolar may correlate with creativity.
• 52:55There's been some discussion how
• 52:56risk with OC D might correlate with
• 52:58adaptive organizational traits in
• 53:00modest doses, so I'm just curious
• 53:02how you address that complexity.
• 53:04In your counseling to summarize
• 53:05how we address that in one word,
• 53:07we would say I'd say carefully.
• 53:11But but yeah, to give you a
• 53:14little bit more context so so.
• 53:16Yeah, we absolutely do,
• 53:17and so you know the language that I've
• 53:20been using with you today is around genetic
• 53:22vulnerability or genetic susceptibility.
• 53:25Or you know predisposition if you like.
• 53:27And those words have varying degrees of
• 53:30negative connotation attached to them, right?
• 53:32So another way of talking about it
• 53:36would actually be to talk about.
• 53:38Plasticity, if you like which is you know,
• 53:41so you know.
• 53:42And I I think for me the word predisposition
• 53:44is the least negative of all you know
• 53:47of the susceptibility vulnerability,
• 53:50kind of group of wording.
• 53:51So, so the way that we often talk
• 53:54about that in the context of genetic
• 53:57counseling would be to have you
• 54:00seen the orchid dandelion stuff.
• 54:03Yeah OK cool yeah.
• 54:04So for those of you that don't
• 54:06know it the so it's about.
• 54:08It's about plasticity and
• 54:09it's about exactly this stuff.
• 54:10It's about how there is evidence
• 54:12that the genetic factors that
• 54:14contribute to vulnerability for these
• 54:16conditions also can confer some
• 54:18traits that we tend to think of in a
• 54:20more positive light creativity blog.
• 54:21You know,
• 54:22all of those things we were
• 54:23just talking about.
• 54:24So the concept is that there are,
• 54:27you know, people can be thought of
• 54:29as orchids or dandy Lions, right?
• 54:30Dandy Lions are really robust,
• 54:32they can grow through cracks in paving slabs.
• 54:35Their environment doesn't matter
• 54:36so much to them.
• 54:38They will produce a dandy lion flower, right?
• 54:41Whereas on the other hand,
• 54:43orchids are not going to go
• 54:45through cracks in pavements.
• 54:46They're just not.
• 54:47However,
• 54:48with the right circumstances and environment,
• 54:50or kids can thrive, and they can.
• 54:53Arguably, depending on your perspective,
• 54:55produce a flower that is more
• 54:57beautiful than Dandy lion.
• 54:58Not that this is a competition,
• 55:00of course,
• 55:01so so it's a way of helping people to see.
• 55:05That you're not doomed that there,
• 55:07but there are positives,
• 55:08so there can be positives associated
• 55:10with some of this.
• 55:11However,
• 55:12there's it can be really difficult to
• 55:14have this conversation with parents,
• 55:15for example, who then get like.
• 55:17OK,
• 55:18I'm going to do everything within my power,
• 55:20you know.
• 55:21And so we you need to be really
• 55:23careful about tempering that with.
• 55:25We don't know what that perfect
• 55:27environment necessarily looked like.
• 55:29And we don't have complete control
• 55:31over the environment either, so.
• 55:32You know so,
• 55:33so so I wasn't being facetious when
• 55:36I said we handle it carefully because
• 55:38we really do have to handle it carefully,
• 55:41but I think it's a beautiful
• 55:43and important concept.
• 55:44So thank you
• 55:45for asking about it.
• 55:47Yeah, yeah, thank you.
• 55:48Chat one of them is is
• 55:50actually pretty close to that.
• 55:51So asking whether you see you
• 55:53ever see people adopt extreme
• 55:55behavioral changes afterwards,
• 55:56such as extreme exercise. Oh,
• 55:58that's a lovely question because
• 55:59especially if we're thinking about
• 56:01things like eating disorders.
• 56:02Of course, this gets really important.
• 56:04So in all of this we we have to be
• 56:07like you have to be super aware of
• 56:10exactly what you're dealing with, right?
• 56:12So we have to be very careful about
• 56:15ensuring that you know it's about.
• 56:17In these contexts about moderation.
• 56:19And no, actually we have to our knowledge.
• 56:21So far we haven't seen extreme examples
• 56:24or of that kind of thing but but
• 56:26we do try to be very mindful about
• 56:29ensuring you know we talk to people,
• 56:31for example about self compassion.
• 56:33You know this idea that like.
• 56:35And once you're telling people that hey
• 56:37sleep diet and exercise blah blah blah,
• 56:39you know. So people,
• 56:40I imagine at least that people can
• 56:42get into a place where they do.
• 56:43Oh my God, I had fries for lunch
• 56:45and then pizza for dinner.
• 56:47And I know that I should do better and they
• 56:49do self flagellation with guilt stick.
• 56:51So we talk to people about exactly that.
• 56:53We took you.
• 56:53This is not about perfection.
• 56:54This is not like what even is that
• 56:56it's not a thing.
• 56:57It doesn't exist, stop it.
• 57:00So what we're aiming for is
• 57:02doing the best you can,
• 57:04and being kind to yourself
• 57:05if that's just not possible,
• 57:07right?
• 57:07Yeah, that sort of thing, not a question.
• 57:09Have you looked at individual
• 57:11differences in response to the
• 57:12genetic counseling sessions in
• 57:14ultimate treatment outcomes?
• 57:15And if you've seen any effect in
• 57:17addiction prevention and or treatment,
• 57:18right? Thank you.
• 57:19Yeah, great question.
• 57:20So yeah, we have looked at in the
• 57:22Gerard paper from the end of last
• 57:24year that I mentioned briefly,
• 57:26we did look at like different diagnosis
• 57:28and I think substance use conditions
• 57:30with one of them that we separated out.
• 57:33And when we're not seeing any,
• 57:35there's no like there's no statistically
• 57:38significant differences in outcomes between.
• 57:41You know people based on diagnosis.
• 57:42We've also looked just recently.
• 57:44I've had a student won an award
• 57:46actually for a study where she was
• 57:48looking at Big 5 personality traits and
• 57:50coping styles in relation to outcomes
• 57:52of psychiatric genetic counseling.
• 57:53And Interestingly,
• 57:54she found that there was no,
• 57:55there was no difference between the groups.
• 57:58But I have theories about why that
• 57:59might be so because I've said right
• 58:01psychiatric genetic counseling
• 58:02is very patient centered,
• 58:04so I think that what we could be doing
• 58:06is actually just modifying what we're
• 58:08doing to meet the individual patients needs,
• 58:10which is why we don't
• 58:12really see a difference.
• 58:13Possibly I don't know.
• 58:14It's an interesting idea anyway.
• 58:16So yeah, we are.
• 58:17We're very interested in exactly
• 58:18those questions,
• 58:19and studying them actively.
• 58:22Awesome and a question relating
• 58:24to monotonicity versus polygenic
• 58:26city and and whether you can,
• 58:27clinicians are ready to help people
• 58:30with PRS information that's coming
• 58:32from direct consumer is that the end
• 58:34of that answer?
• 58:39Might not be much more to the question.
• 58:42It's a great question and and it's actually,
• 58:45you know, that's why I wanted to
• 58:46include it in my presentation today
• 58:48because I think many clinicians aren't
• 58:50even aware that this is happening yet.
• 58:53But we are at the front that we're
• 58:55at the leading edge of the wave.
• 58:57It's coming, so I would say that
• 58:59should you should you get a patient
• 59:01coming in with this stuff and you
• 59:03feel unsure about how to handle it,
• 59:05please reach out to your genetic counselor.
• 59:07Colleagues were here to help y'all.
• 59:09Based in the US,
• 59:11and there's actually a tool called
• 59:13Find a geneticcounselor.com where
• 59:15you can literally find genetic
• 59:16counselors in your local area who could
• 59:18help you with this sort of thing.
• 59:20If it was a concern, yeah.
• 59:23We may
• 59:24find them, but I don't think they're
• 59:25going to be as cool as you are.
• 59:28Play some pretty cool ones. I have to
• 59:30say to me it looks like we've
• 59:32gotten to the end of the questions
• 59:34and we're at the one hour mark.
• 59:36So so I think maybe that is a good
• 59:39moment to pause and again say.
• 59:41Thank you so much for joining us.
• 59:43What a fantastic presentation.
• 59:45Thank you. Yeah, no problem is very
• 59:48nice to meet. You all have a good day, yeah?