When Genes Guide Care: BRCA, Rapid Testing and Real Choices. Demystifying Genetics with Mary-Anne Young (Favourite Genes BRCA1&2).

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Welcome back to Demystifying Genetics. I'm your host, Dr. Matt Burgess.
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Today I'm joined by Mary-Anne Young from the Garvin Institute of Medical Research
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in Sydney, a leader in clinical genomics and genetic counselling.
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Mary-Anne has been at the forefront of bringing genomics into everyday healthcare,
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and she's played a key role in shaping how clinicians and patients navigate
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this rapidly evolving space.
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We'll be talking about how genomics is transforming healthcare delivery,
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the ethical and practical challenges that come with that, and what the future
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might look like for the genetic counselling profession.
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Hello, Marianne. Hello, Matthew. How are you? Good. How's it going?
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Very well. Thank you. Now, I must admit, I am a little bit envious.
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Jess, I mean, I think I live in a beautiful city in the world,
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but you now live close to the ocean in like a really beautiful part of the world.
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How has that been for you? It's really lovely, actually, in the sense that I
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get to have a really lovely lifestyle as well as being able to work from home.
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I live in the bush close to the ocean and I'm able to enjoy all those sort of
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opportunities around lifestyle that those things bring.
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Like, you know, I'm part of a swimming group that we swim.
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365 days of the year we just
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all get in the ocean and have a bit of a laugh and so I
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get to my lifestyle is far more balanced with my work than it's ever been before
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which is really important I mean I think especially in Victoria with the lockdowns
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with COVID that didn't sound good at all but I think one of the benefits that
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have come from that is sort of just the accessibility of
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work with Zoom and, you know, it sounds like you have like a really lovely work-life balance.
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You've got this great job that's sort of based in, you know,
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in Sydney, the big city, but you have all of the sort of advantages of living
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in a beautiful country town.
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I do. And I also, the other great things is I get to go to Sydney every about
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six weeks. So, I go up to Sydney, I, you know, I hang out in my old stomping
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ground where I used to live.
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I catch up with my team. I see all my colleagues at Garvin.
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I have a week of that and then I come home exhausted and recover and get back to work.
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So I really have a beautiful blend of lifestyles, yeah. Well done.
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So when I asked you what your favourite genes were or what your favourite conditions
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were, you very quickly said BRCA1 and BRCA2.
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Now, I think people that know you as a genetic counsellor know that you have
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been working in the hereditary cancer space for a long time.
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But yeah, let's have a talk about BRCA1 and 2.
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Why are they your favourites?
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They're my favourites because they were the first two genes that really propelled
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cancer genetics into genetic counselling and actually that genetic counsellors
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could add a lot of value in the cancer genetic space and also for patients,
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from a patient perspective,
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they provided more certainty. Being able to identify those genes in families
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provided a lot more certainty and explanation for families and that was pleasing
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to see because they wanted that certainty.
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They wanted to understand why this had been happening to their family and so
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rather than just saying we think it's likely there's a journey in your family
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and everyone should have screening.
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We were then able to test, this was in the mid-1990s, which was a very long
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time ago, but we were then able to test various people and the results,
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you know, I look back now and I think, God, the results took 18 months to come through from testing.
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But, you know, it was really the beginning of a whole new era in genetic counselling and also,
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as I said, the benefits for patients in regards to being able to give them an
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explanation and provide more accurate risk information for them and their families
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and then from there there's been this whole evolution I think about BRCA1 and 2,
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the evolution about more evidence-based risk management practices for people,
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the introduction of a Medicare item number for women to access breast MRI.
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So there's been a whole not just the finding of the genes but the evolution
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of the whole system that happens when women have a BRCA1 or 2 gene.
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And there's also, you know, now there's an Inherited Cancer Connect,
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you know, a support group, an advocacy group for people, particularly women
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with BRCA1 mutations in regards to advocacy, consumer engagement.
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So, yeah, it's just been, over time, incredible to see the development of the
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whole system around BRCA1 and 2 that really benefits patients, actually.
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And, you know, obviously in, you know, that was probably 30 years ago now when
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these genes were identified and we could start offering testing.
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And you said that it would take 18 months to get a result.
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And we know that, you know, there's sort of ultra rapid genetic testing now, which can take,
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you know, a matter of hours sometimes. Do you think there's like a sweet spot?
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Like is faster always better?
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I mean, I'm guessing 18 months is too long, but do you think like less than a day is too short or?
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I think if you're in a critical situation, particularly if you think about the
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work that's come from the NICU and PICU in the rapid genomic testing for newborns or young children.
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Or if you think about hereditary breast and iverine cancer with BRCA1 and 2,
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women who are diagnosed with breast cancer and having to make decisions about
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treatment or people who have a diagnosis and they want to use that genetic information
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in their treatment decisions.
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Rapid is really important. I think it's really, really important.
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I think that weeks is fine to wait for a genetic test result,
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but 18 months is just crazy. Yeah.
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It's really interesting. I mean, something that I've seen in my sort of career,
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and I'm guessing that you probably would have seen it as well, is that idea of,
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you know, when I first started, it was kind of like genetics was like an afterthought.
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Like, let's get your treatment done. Like, let's, you know, we'll do the operation,
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like we'll get everything done and then you can kind of think about genetics.
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And that was kind of like, yes, it's important, but let's just put it on the back burner.
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Whereas now it's almost, I mean, it is opposite.
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You know, a lot of the times it's kind of like, okay, genetics is the first thing we want you to do.
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How have you seen that sort of evolve? And like, you know, was that a surprise
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as someone who sort of have been working in this space for a long time?
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I don't think it was a surprise and I think it's just, it's a good example of
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the evolution of genetics
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people's concerns around genetic information and how
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it can harm people I mean you know I think back to when we
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first started and we used to make people
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come in it was just ridiculous we used to ask people to come in
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for two pre-test appointments and and then
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we'd give them their results and we wondered why there were
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there seemed to be that the women didn't want to engage with us in a more therapeutic
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way that they really felt that they had to prove that they were competent both
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psychologically and in other ways to be granted the test where it actually wasn't like that.
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And so I then actually did my master's by research in looking at how women made
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decisions about genetic testing for BRCA1 and 2 and found that they'd already
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made their decision before they came to the clinic.
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And really what we were doing by having two appointments was just actually delaying
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something that they'd already decided they wanted to do.
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And so we dropped it to one and then I think
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what we've seen is just more of a streamlining of
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the process and we know that genetic information
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is not harmful psychologically and
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we know that across the board with genetic information and part
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of that has actually been around retraining our brains as genetic healthcare
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professionals to understand the value of genetic information and it is distressing
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but it's less distressing than being told you've got metastatic cancer.
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So putting it into some sort of context has been
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really important and then the evidence that it's
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been generated not only about the fact that there's no long-term
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psychological harm but the evidence that's been
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generated around the benefits of being able to use genetic information for treatment
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and that's particularly happened with you know like the PARP inhibitors for
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ovarian cancer that they can actually prolong women's lives which is really
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important and also thinking about you know mastectomy if a woman has a diagnosis.
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You know, thinking about a contralateral mastectomy as well.
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So I think there's just much more evidence that's been able to inform our practice.
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And I think the other thing is that, you know, the genetics has actually moved into oncology.
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And there's a partnership now with oncology and genetics. It's not just genetics
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coming in as a specialty.
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It's much more, you know, oncologists can manage genetic information as well.
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You know, I think our domain is much more in the after.
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It's the helping people adjust to the genetic information and particularly around
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family communication, very much so.
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The genetic counsellors that
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work a lot in oncology, we do a lot of predictive testing appointments.
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So when pathogenic or a disease-causing variant has already been identified
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in a family and we can offer people a test to see whether they've inherited that or not.
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And really, I think as genetic counsellors, we think that we're going to have
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this, you know, facilitated discussion with them about the pros and cons of testing.
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But I think you're right. Like probably more than 90% of the people that had
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these appointments have already made their decision whether they want testing or not.
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I mean, I would love to have appointments with more people that are really uncertain
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about whether they want testing or not. But yeah, and I'm not surprised.
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I think it sort of brings up this idea of gatekeeping like
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you know when the people they feel
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like they need to say the right thing to
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be approved for a test like we as the
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you know the test orderers are going to
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approve or disapprove someone depending on what they say
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and I saw that in sort of Huntington disease sometimes
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like for pre-symptomatic testing it was like
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some of the people sort of coached each
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other on what to say like you know oh they
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really want to hear that you've thought about it so make sure you say this
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but yeah I don't know it's interesting like I
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would be very happy to have like a conversation about that but
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it really feels like our our role has sort of evolved to you know more that
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post test counselling sort of area yeah and look I think Huntington's disease
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is quite different and those neurological diseases are actually very different
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in a way but with familial cancer I I do think it's a lot more straightforward.
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And I think thinking about future sort of service delivery models,
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thinking about how can we streamline the 90% of patients that you talk about
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that know they want the test.
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Let's just do the test and then help them.
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It's the result that's the most important thing and how that result is adjusted
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to, communicated to their family, be positive or negative, and then longer term,
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how we help them keep up with all that complicated risk management stuff.
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So, you know, following people up every year to see how they're getting on with
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their risk management and how is the communication in their family going?
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Are there more people who want to come forward for predictive testing?
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Because I think that's where our skill set lies as genetic counsellors.
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You know, I think we have that really great ability to talk with people about
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family communication and help people make decisions about whether they want
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to have genetic testing, predictive testing or not.
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So you've been involved with some really interesting research in lots of different
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sort of psychosocial and ethical areas in genetics.
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And you said that, you know, you did
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your master's looking at sort of decision-making for women with cancer.
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Like, have you been involved with.
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Integrating that stuff from research into clinical practice?
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I know that sort of can take a long time sometimes, but, you know, let's talk about that.
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Like, have you been successful in being able to initiate change?
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It's a really good question. And I really, I really agree with you that that's
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actually the hardest part of the equation of all of this.
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I think my research when I did my master's actually led to change in regards
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to the fact that we dropped two appointments to one.
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But I think that was also something that people just knew as well.
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It was just like common sense.
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But I suppose one of the things that I'm working on at the moment with people
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at the Familiar Cancer Centre in Parkville is using polygenic risk information
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to think about personalised genomic risk information for women who are having
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predictive testing for BRCA1 and 2.
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And so we're now at the stage where we got some pilot data, then we've run a
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clinical trial, and now thinking about that implementation side of things.
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And in answer to your question, no, I haven't been involved significantly,
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but am now involved in how we think about polygenic risk information being used
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in penetrance, in disease penetrance.
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And it's incredibly complicated, really complicated.
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You know, you've got to think about all the, not just the psychosocial aspects,
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but there's all the change management aspects.
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There's the regulation aspects. There's the funding aspects.
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There's the, you know, it's a whole of system change. It's really complex.
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And do you think that our patients are okay with, you know, when we're,
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you know, genetic counselors are really good at taking complex information and
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explaining it in a way that makes sense.
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But all of a sudden, you know, like we used to be talking about these monogenic
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changes, which, you know...
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Big changes or big mutations in one gene that causes like a massive effect.
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And now with polygenic risk testing, we're talking about, you know,
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hundreds or, you know, scores of these little changes that individually don't
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really do anything, but when we sort of group them together has an effect.
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I don't know, like, I don't know if it's a bit sort of patronizing or paternalistic,
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but I know like some of the worries have been like, oh, people won't understand
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and, you know, like it's too difficult.
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Have you had sort of experience in how people are understanding polygenic risk score?
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So, the first study that we did was where we looked at people who were,
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women who were BRCA negative, and we found that polygenic,
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information explained their breast cancer and also explained their family history.
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So they had high polygenic risk scores and found that women understood it.
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They were really pleased because it explained why they had a diagnosis of breast
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cancer and their family history.
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And it also gave some really beneficial information in the sense that it's not
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associated with ovarian cancer like BRCA1 and 2 are.
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So then we've moved on to the clinical trial and I'm just about to submit a.
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Again, women understand this information and it's personalised genomic risk
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information that they understand.
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I think the question we have to ask ourselves as healthcare professionals is
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what level of understanding do we want people to have?
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And we don't need them to be genetic experts.
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They get it. They get the gist of it. So we talk about in this paper the gist,
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that people get the bottom line meaning of it,
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that they've got this gene in their family that has a big effect and there are
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other lots of little genes that can influence that big effect,
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and that's what we're measuring.
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And I think, you know, I think the question that I've started to ask myself
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now is, what is it that we think is important for people to leave the room with
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when they walk out to understand?
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Because, yeah, I think sometimes we can give a lot of information to people,
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and that can be helpful for some people very much.
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Some people want a lot of information, but there's a lot of
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people who really just want the bottom line of what it is that
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we're talking about yeah yeah and for these
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people they really wanted to know what's my risk
00:17:31.724 --> 00:17:34.524
i just wanted the number what is my risk and what
00:17:34.524 --> 00:17:40.324
can i do about it rather than my risk is constructed by this this this this
00:17:40.324 --> 00:17:45.244
and this and it's put into an algorithm and then we do this and then we do that
00:17:45.244 --> 00:17:49.724
and extract the dna and then we do this and you know they just want to know
00:17:49.724 --> 00:17:53.744
what's the number that got spat out and what am i going to do about it And that's it.
00:17:54.144 --> 00:17:58.504
Yeah, I get it. It's something that I've been working with my students about
00:17:58.504 --> 00:18:01.384
actually, because it's kind of like...
00:18:01.922 --> 00:18:08.102
On the first level, we understand the information and we want to share that
00:18:08.102 --> 00:18:12.222
information. So, we've got to be good genetic counsellors and that means we
00:18:12.222 --> 00:18:15.002
have to explain everything because we understand it.
00:18:15.102 --> 00:18:20.022
But I think sort of that next level is what's actually important here.
00:18:20.522 --> 00:18:25.482
You know, our job isn't to give people like an in-depth genetics lesson.
00:18:25.482 --> 00:18:28.602
It's kind of to talk about, yeah maybe just
00:18:28.602 --> 00:18:31.322
what the gist is or what's important and like I
00:18:31.322 --> 00:18:34.742
see you know like a lot of other medical specialties do
00:18:34.742 --> 00:18:37.962
that like you know I'm sure that my GP is like
00:18:37.962 --> 00:18:42.062
thinking of a hundred different things when she asks like a certain question
00:18:42.062 --> 00:18:46.862
and I don't think I need to kind of understand it all I don't know I yeah I
00:18:46.862 --> 00:18:51.322
feel like the pendulum is swinging like we don't want to be sort of not giving
00:18:51.322 --> 00:18:52.682
any information and just telling
00:18:52.682 --> 00:18:56.222
people we need to give people enough information to make a decision,
00:18:56.462 --> 00:19:00.642
but it's about what information do they want and what is it.
00:19:00.802 --> 00:19:05.442
And I'm not criticising genetic councils. I just think it's an evolution of where we're going.
00:19:06.342 --> 00:19:13.082
Yeah. Yeah. No, I agree. Things are evolving and it's really cool to kind of think about,
00:19:13.222 --> 00:19:16.342
you know, we have all of this information and
00:19:16.342 --> 00:19:19.222
we're getting all of these data points from lots of
00:19:19.222 --> 00:19:22.802
different sort of experiments or different scientific
00:19:22.802 --> 00:19:25.902
techniques and you know what's
00:19:25.902 --> 00:19:31.382
important for us to share and you know you don't kind of need to talk about
00:19:31.382 --> 00:19:34.982
the technique but it kind of was like you know what does that mean to you like
00:19:34.982 --> 00:19:41.662
how do you feel about that or how is that going to change what you yeah how
00:19:41.662 --> 00:19:44.202
you pick things and yeah I think that that's really exciting,
00:19:45.522 --> 00:19:49.902
And I mean, you have to think one of the reasons we went into this profession
00:19:49.902 --> 00:19:52.582
is that we're interested in the technology.
00:19:52.942 --> 00:19:57.462
I find the technology at times quite, I use the word tantalising, I think it's amazing.
00:19:58.222 --> 00:20:02.682
But do my patients really need to know all of that? I think that's the thing.
00:20:03.282 --> 00:20:07.122
I mean, I think they need to know some of it. But sometimes I remember when
00:20:07.122 --> 00:20:10.642
I first started practicing, you know, which was a very long time ago,
00:20:10.722 --> 00:20:14.862
but we used to teach people how many chromosomes there were and how many genes on the chromosomes.
00:20:16.862 --> 00:20:20.862
And, you know, that was what we thought was helpful for people to understand,
00:20:20.862 --> 00:20:23.622
whereas we know that things have changed and moved.
00:20:23.822 --> 00:20:28.002
And it's good to see that that's really not what people want to know.
00:20:28.222 --> 00:20:35.542
Now, one thing I've been really excited to talk to you about is family therapy.
00:20:36.102 --> 00:20:40.142
And I know that you've sort of done some extra training.
00:20:40.462 --> 00:20:43.942
I don't know. I keep saying everything's interesting. But, you know,
00:20:44.042 --> 00:20:48.462
as genetic counsellors, I think, you know, we meet with our clients.
00:20:49.362 --> 00:20:55.182
And it's fascinating, this relationship, because we really are having a relationship
00:20:55.182 --> 00:20:56.702
with the person in front of us.
00:20:57.202 --> 00:21:01.822
But unlike other areas of medicine, we're talking about the family or we're
00:21:01.822 --> 00:21:03.782
talking about things that affect the family.
00:21:04.042 --> 00:21:07.962
So, even if you don't like your brother or your sister or you don't talk to
00:21:07.962 --> 00:21:10.902
them, you still have these sort of genetic issues.
00:21:11.267 --> 00:21:13.947
Like elements in common that can sort of
00:21:13.947 --> 00:21:16.807
affect things and I just
00:21:16.807 --> 00:21:19.887
find like you know like we do have good
00:21:19.887 --> 00:21:23.527
training in counselling and communication but like
00:21:23.527 --> 00:21:26.767
kind of this family therapy or family
00:21:26.767 --> 00:21:29.687
systems I you know it's not something that
00:21:29.687 --> 00:21:32.567
a lot of genetic counsellors sort of deal with
00:21:32.567 --> 00:21:36.007
what drew you to that area
00:21:36.007 --> 00:21:39.647
so it was a very long time ago and my supervisor like
00:21:39.647 --> 00:21:42.487
my counselling supervisor she was actually a
00:21:42.487 --> 00:21:46.107
social worker and a family therapist and she
00:21:46.107 --> 00:21:49.067
was doing the predictive testing or she
00:21:49.067 --> 00:21:52.087
did the Huntington's disease program and so
00:21:52.087 --> 00:21:57.187
through my relationship with her as my supervisor I became really interested
00:21:57.187 --> 00:22:03.487
in family systems theory and I thought it was of direct relevance to my practice
00:22:03.487 --> 00:22:09.487
and I wanted to I don't know I wanted to deepen my counselling abilities.
00:22:09.847 --> 00:22:16.047
So I went and did a family therapy training. I did a graduate diploma in family therapy.
00:22:16.447 --> 00:22:21.927
And through that, I learned so much about family systems theory,
00:22:22.127 --> 00:22:25.887
which I not only use in my genetic counselling practice, but I use it in my
00:22:25.887 --> 00:22:29.967
management sort of as well and leadership roles in the sense of,
00:22:30.007 --> 00:22:32.787
you know, any organisation is like one big system,
00:22:32.967 --> 00:22:37.787
like a family system, but in my practice, I use it all the time,
00:22:37.867 --> 00:22:41.867
all the time, and not just thinking about families as systems,
00:22:42.127 --> 00:22:47.827
but also there are specific interventions or questions I might ask from a family system's perspective.
00:22:48.653 --> 00:22:52.973
Particularly when talking about how to talk to your family or roles in your
00:22:52.973 --> 00:22:56.933
family when trying to communicate genetic information and how that might go.
00:22:57.153 --> 00:23:00.193
I'll never forget when I was doing my family therapy training,
00:23:00.353 --> 00:23:04.173
we used to have tutorial groups and I was sitting there one day telling them
00:23:04.173 --> 00:23:07.693
about, I was running the predictive testing program for FAP.
00:23:08.173 --> 00:23:12.853
So I was meeting with these adolescents and they wouldn't talk to me and I'd
00:23:12.853 --> 00:23:16.753
ask them questions and they'd just look at me like,
00:23:16.753 --> 00:23:20.953
you know I was an alien from another planet anyway these
00:23:20.953 --> 00:23:23.993
child and adolescent family therapists they
00:23:23.993 --> 00:23:26.773
said to me so what are you doing you know tell me
00:23:26.773 --> 00:23:29.433
what happened so I said oh we go and get from the waiting room and
00:23:29.433 --> 00:23:32.173
then we bring them into the appointment room and then we sit down and we
00:23:32.173 --> 00:23:36.393
talk and they said they won't do that there's no way they're going to talk to
00:23:36.393 --> 00:23:43.873
you like that they said go for a walk so I changed my practice and so what used
00:23:43.873 --> 00:23:48.953
to happen was they'd arrive and we had a path and rather than taking them in,
00:23:49.073 --> 00:23:50.433
I'd say, come on, let's go for a walk.
00:23:50.553 --> 00:23:53.013
And we'd walk around the park and we'd talk.
00:23:53.213 --> 00:23:58.753
And we'd talk about basketball, we'd talk about football, we talked about 50,000
00:23:58.753 --> 00:24:00.253
things other than genetics.
00:24:00.453 --> 00:24:05.633
And then every so often we'd talk about genetics and it worked. It really worked.
00:24:05.733 --> 00:24:11.393
And I had to adjust my practice to think differently around the way that we did this.
00:24:11.553 --> 00:24:14.413
And I got that from my family therapy training that, you know,
00:24:14.593 --> 00:24:17.893
when you work with adolescents, they're not going to sit in a room and talk
00:24:17.893 --> 00:24:19.793
to you. They want to do something different.
00:24:20.260 --> 00:24:24.420
And, I mean, especially talking about FAP where you're talking about,
00:24:24.420 --> 00:24:30.320
you know, bowels and poops, operations and, like, you know, that's difficult.
00:24:31.440 --> 00:24:35.020
Colonoscopies, yeah. That's difficult at the best of times. So,
00:24:35.020 --> 00:24:38.040
that's a brilliant intervention.
00:24:38.520 --> 00:24:42.540
And, like, I know with family systems, like, they talk about boundaries.
00:24:43.440 --> 00:24:48.380
Like, did you have any sort of issues coming up with parents,
00:24:48.700 --> 00:24:53.840
like taking kids for a walk around the park and being able to talk about that?
00:24:54.400 --> 00:25:00.800
I had one particular family I remember who rang me up and asked me if I could just take the blood.
00:25:01.040 --> 00:25:03.600
They could have their kids come in for the blood test and we could tell them
00:25:03.600 --> 00:25:07.080
it was a vitamin test. They needed to have the vitamins checked.
00:25:07.420 --> 00:25:12.580
And I know where that was coming from. I know exactly that they were terrified,
00:25:12.940 --> 00:25:16.160
actually, that one of their kids was going to turn out to have the gene.
00:25:16.260 --> 00:25:17.460
They were absolutely terrified.
00:25:18.060 --> 00:25:23.860
And it was a matter of being able to talk to them about that and the way they
00:25:23.860 --> 00:25:29.540
parented and all that sort of stuff to help them understand that really it was
00:25:29.540 --> 00:25:32.740
better for their kids to have a little bit of knowledge about this.
00:25:32.860 --> 00:25:36.780
It doesn't have to be terribly in-depth, but knowledge about what was going on.
00:25:38.200 --> 00:25:41.360
And when i think of family systems theory i
00:25:41.360 --> 00:25:44.240
kind of think about you know they talk about
00:25:44.240 --> 00:25:49.420
how the different members of the family are sort of interrelated and that families
00:25:49.420 --> 00:25:54.160
or systems work well when they go back into equilibrium like they're always
00:25:54.160 --> 00:25:58.440
trying to find sort of a right balance i mean i don't know if that's right but
00:25:58.440 --> 00:26:02.620
that's sort of my understanding when we meet with families,
00:26:02.720 --> 00:26:08.440
usually we are meeting to discuss something that is huge,
00:26:08.660 --> 00:26:11.600
facilitating a test that could
00:26:11.600 --> 00:26:18.540
literally change the rest of their lives or decisions or what they do.
00:26:19.342 --> 00:26:23.542
Do you find, like from thinking about it from like a family systems point of view,
00:26:24.002 --> 00:26:29.622
when a family is diagnosed or like a condition is diagnosed in a family or if
00:26:29.622 --> 00:26:34.362
people test positive, do you find that they do go back to sort of equilibrium
00:26:34.362 --> 00:26:36.262
and everything sort of calms down?
00:26:36.642 --> 00:26:40.922
No, I think what happens is that they all, there's disequilibrium.
00:26:41.614 --> 00:26:45.994
While they adjust to that information. I think that's where genetic counsellors
00:26:45.994 --> 00:26:50.894
can really be of value because they can help families with that disequilibrium.
00:26:51.394 --> 00:26:55.974
But I think what happens is that people often revert to their usual roles.
00:26:56.214 --> 00:27:01.334
And it's funny, I often say to students, think about your own family and think
00:27:01.334 --> 00:27:03.994
about your role in your family.
00:27:04.394 --> 00:27:11.154
What is your role in your family? We all have roles. We all have ways of doing things.
00:27:11.614 --> 00:27:16.214
And what would it be like if there was a genetic diagnosis in your family? How would that be?
00:27:16.554 --> 00:27:20.634
And who would be the person who maybe wanted to tell everybody or,
00:27:20.674 --> 00:27:23.934
you know, are there some people you don't get on with in your family?
00:27:24.254 --> 00:27:28.234
And our families are no different from the families that we work with.
00:27:28.454 --> 00:27:32.774
You know, some of us also might have an experience of a genetic diagnosis in our family as well.
00:27:33.194 --> 00:27:37.774
Yeah, I think they do get thrown into disequilibrium and our role is to help
00:27:37.774 --> 00:27:42.554
them understand that and then go back to that equilibrium and that's the adjustment.
00:27:42.674 --> 00:27:47.554
It could be a different equilibrium, but it is back to sort of settling with
00:27:47.554 --> 00:27:51.754
that news and adjusting to that news and going forward with that news.
00:27:51.954 --> 00:27:57.534
One of the big themes in healthcare at the moment is this idea of diversity
00:27:57.534 --> 00:28:03.114
and there has been some positive sort of discussion about it and also negative
00:28:03.114 --> 00:28:05.474
kind of discussion about it.
00:28:05.634 --> 00:28:11.014
Just when you were talking then, I was kind of thinking, It would be an advantage
00:28:11.014 --> 00:28:17.294
to have a good diversity of genetic counsellors.
00:28:17.474 --> 00:28:25.034
What I wanted to ask you was what do you think are the advantages of diversity
00:28:25.034 --> 00:28:27.294
in genetic counselling?
00:28:27.694 --> 00:28:33.214
I think it would make genetic counselling and genetic services more.
00:28:33.539 --> 00:28:36.459
More available to people who it's not available to now.
00:28:36.639 --> 00:28:40.899
I think it would bring about equity of access because I think there's a lot
00:28:40.899 --> 00:28:44.919
of people out there that we're not accessing, who are not coming to our services.
00:28:45.519 --> 00:28:50.539
And I'm not saying that if you had a genetic counsellor from their background
00:28:50.539 --> 00:28:52.099
that that would be the panacea.
00:28:52.259 --> 00:28:57.079
There's lots of things that influence why we're not seeing a lot of diversity,
00:28:57.079 --> 00:29:02.479
but I think that having diverse genetic counsellors would be one one way to think about that.
00:29:02.899 --> 00:29:06.159
It's funny, talking about diversity, I was at a presentation
00:29:06.159 --> 00:29:11.999
at the HGSA where they were talking about genetic counselling in Malaysia and
00:29:11.999 --> 00:29:23.599
how different it is and how the male often makes the decisions in those situations about what happens.
00:29:23.779 --> 00:29:26.519
And of course, I get on my feminist high horse and think, well,
00:29:26.739 --> 00:29:28.979
that's not how it should be.
00:29:29.039 --> 00:29:33.399
And then I listened more and more and more and I thought, gee,
00:29:33.499 --> 00:29:35.539
it must be hard to work in a –.
00:29:37.149 --> 00:29:43.969
A country where, you know, you have so many different influences into the decision
00:29:43.969 --> 00:29:48.949
around what's often sort of, I'm going to sound old-fashioned here,
00:29:49.029 --> 00:29:50.369
but women's business, you know.
00:29:50.989 --> 00:29:55.929
But yeah, I was really struck with actually taking a step back and saying actually,
00:29:56.589 --> 00:29:59.829
your feminist ideology doesn't work in that setting.
00:29:59.849 --> 00:30:04.549
You need to actually think differently about the setting that these genetic
00:30:04.549 --> 00:30:05.829
counsellors are working in.
00:30:06.049 --> 00:30:10.349
And I learned an awful lot from those presentations. And I think,
00:30:10.429 --> 00:30:16.069
you know, it does help to have a diversity in genetic counselling from practitioners
00:30:16.069 --> 00:30:19.249
in regards to working with specific populations.
00:30:19.589 --> 00:30:22.849
Yeah, that's a huge advantage to sort of have an understanding.
00:30:23.209 --> 00:30:28.589
Like it's a very cultural thing. And, you know, sometimes it's hard to learn
00:30:28.589 --> 00:30:32.749
like academically about that. But if you are from the same culture,
00:30:32.929 --> 00:30:34.289
you do have like an understanding.
00:30:34.669 --> 00:30:39.149
Yeah. And I wonder if there's also greater acceptance. I don't know.
00:30:39.269 --> 00:30:43.549
But I assume there's greater acceptance for the communities themselves.
00:30:43.989 --> 00:30:49.109
Like, you know, I'm working in some clinical trials, stuff at the moment around diversity and equity.
00:30:49.449 --> 00:30:54.929
And bilingual health navigators are very successful because patients feel more
00:30:54.929 --> 00:30:57.789
comfortable. They're more accepting of...
00:30:58.737 --> 00:31:04.057
The bilingual health navigators who are helping them traverse that really complex health system.
00:31:04.617 --> 00:31:08.157
Yeah, so I think hats off to more diverse genetic counsellors.
00:31:08.337 --> 00:31:14.117
I just spent a couple of weeks in Japan and it was an amazing experience.
00:31:14.357 --> 00:31:22.517
And I was lucky enough to spend some time with a family where I met multiple
00:31:22.517 --> 00:31:24.557
people in multiple generations.
00:31:24.557 --> 00:31:35.817
And what I sort of learnt was how important this sort of the patriarchy in this family,
00:31:35.977 --> 00:31:43.977
like, you know, the grandfather really was in charge of the family and he had a number of children.
00:31:44.377 --> 00:31:50.397
Both males and females and it was interesting to kind of just see that they
00:31:50.397 --> 00:31:56.297
kind from a very young age knew, oh, okay, I'm the eldest son, so this is what it means.
00:31:56.297 --> 00:32:00.037
And I'm the second son, and then this is what it means.
00:32:00.137 --> 00:32:06.497
And I kind of was thinking, I don't know if everyone's happy or anyone's happy,
00:32:06.697 --> 00:32:09.757
but that's kind of just accepted.
00:32:09.937 --> 00:32:13.697
And I don't know if it's a long bow, but I was kind of thinking,
00:32:13.697 --> 00:32:16.937
oh, from a genetic counseling point of view, you know, if families like that
00:32:16.937 --> 00:32:22.817
where the structure is already so set, then they come in and we kind of are
00:32:22.817 --> 00:32:24.697
like, okay, well, this is how it's going to be.
00:32:24.837 --> 00:32:28.737
Like, I'm not surprised that it can rub people the wrong way or it just doesn't
00:32:28.737 --> 00:32:32.677
work. It's like, yeah, we're using two different systems and they're sort of
00:32:32.677 --> 00:32:34.157
clashing with each other.
00:32:34.677 --> 00:32:38.617
And I mean, when you think about it, I often say genetics is a really Western concept.
00:32:38.997 --> 00:32:44.597
I think that when we work with families, I mean, each family has its own individual culture.
00:32:45.097 --> 00:32:49.957
But I think that when you come up with cultures that are very different from your own.
00:32:50.887 --> 00:32:56.747
You really have to be respectful and curious about the culture in their family,
00:32:56.947 --> 00:32:59.267
be it a patriarchal system or whatever.
00:32:59.707 --> 00:33:03.647
Yeah. And they're not coming to us with a broken family system.
00:33:03.907 --> 00:33:07.127
They're coming to us to get genetic information.
00:33:07.487 --> 00:33:11.927
What we know is that genetic information will disrupt that family system for
00:33:11.927 --> 00:33:15.387
a period of time, and our job is to help them traverse that,
00:33:15.547 --> 00:33:17.787
actually, and adjust to that information.
00:33:18.927 --> 00:33:22.267
Like i know like sort of when i was younger in sort
00:33:22.267 --> 00:33:25.307
of families where yeah maybe the
00:33:25.307 --> 00:33:28.307
male was making a decision or like it was one person
00:33:28.307 --> 00:33:31.167
i always felt like that was so unfair and it
00:33:31.167 --> 00:33:36.287
was so unjust and we needed to sort of call like you know counsel and then it's
00:33:36.287 --> 00:33:42.667
kind of like a lot of the time they are making decisions that are the best for
00:33:42.667 --> 00:33:47.087
the whole family and they really have thought about it and maybe there's something
00:33:47.087 --> 00:33:50.147
in it that I, you know, didn't really appreciate.
00:33:50.847 --> 00:33:54.447
Yeah, and I think that the thing is from a family systems perspective,
00:33:54.447 --> 00:33:58.767
the question I might think about asking in that situation, is this how your
00:33:58.767 --> 00:34:04.387
family usually makes decisions that you defer to the grandfather or whatever?
00:34:04.387 --> 00:34:08.327
And if they say yes and everyone, you know, says that's fine,
00:34:08.507 --> 00:34:10.067
then And that's the way they work.
00:34:10.327 --> 00:34:15.127
You know, we might think that we might work differently, but that's how it is.
00:34:15.147 --> 00:34:19.707
And they haven't come to us saying, I don't want my grandfather to make this decision.
00:34:19.867 --> 00:34:23.847
They've come to us saying, we've got this information and we need to make a decision about it.
00:34:24.087 --> 00:34:26.867
Can you help us work through that? Absolutely.
00:34:27.589 --> 00:34:34.869
Now, you mentioned leadership and management, and one of the things that I know
00:34:34.869 --> 00:34:40.069
that you're interested in is sort of the advancement of genetic counsellors in our industry.
00:34:40.369 --> 00:34:45.129
And over the time that you've been a genetic counsellor, I'm sure that you've
00:34:45.129 --> 00:34:49.649
seen things sort of evolve and change and sort of different opportunities.
00:34:49.949 --> 00:34:55.649
But I wanted to ask you about leadership in our organisation.
00:34:55.649 --> 00:34:59.849
Like you were the president and yeah
00:34:59.849 --> 00:35:03.129
how was that experience it was fabulous
00:35:03.129 --> 00:35:08.789
I was the president of the HGSA and I remember when they rang me up to ask me
00:35:08.789 --> 00:35:12.269
if I would consider being you have to be the vice president for two years the
00:35:12.269 --> 00:35:15.529
president for two years and then the past president for two years so it was
00:35:15.529 --> 00:35:20.529
a six-year term and it was voluntary so I said to them well before I say yes,
00:35:20.709 --> 00:35:24.189
I need to ask my family and my work.
00:35:25.169 --> 00:35:29.689
So I spoke to my family and, of course, they're all just, you know, go for it, go for it.
00:35:30.029 --> 00:35:34.689
And I spoke to my employer at the time and they were really supportive.
00:35:34.689 --> 00:35:40.509
And I said to them, because, you know, this will take time for me at work to do.
00:35:41.249 --> 00:35:44.409
But I loved it. I loved the people I worked with.
00:35:44.649 --> 00:35:49.969
Everybody was on the same track, sort of pulling together to advance the organisation.
00:35:50.229 --> 00:35:54.849
There were challenges there were difficulties like any sort of organization
00:35:54.849 --> 00:36:01.629
but yeah I really really loved it and I learned a lot about strategy about.
00:36:02.716 --> 00:36:07.256
More about leadership, you know, communication. Yeah, I really,
00:36:07.416 --> 00:36:10.456
really loved it. And now we've had other genetic counsellors.
00:36:10.616 --> 00:36:16.536
You know, Alison McEwen has just been the president. So it's paved the way in
00:36:16.536 --> 00:36:22.436
the HGSA for genetic counsellors to actually be, you know, the president of the organisation.
00:36:23.436 --> 00:36:25.816
Which is an incredible step.
00:36:26.556 --> 00:36:30.256
When I first started, if someone asked me, I would have said,
00:36:30.256 --> 00:36:35.716
oh, no, you have to be a medical doctor or you need to be like a scientist with a PhD.
00:36:36.336 --> 00:36:39.156
And then it's like, okay, well, that's not true at all.
00:36:39.456 --> 00:36:44.856
Like, you know, genetic counsellors have these, you know, wonderful skills that
00:36:44.856 --> 00:36:47.116
we can use in leadership as well.
00:36:47.256 --> 00:36:51.256
And I think that you did a great job of being able to show us that.
00:36:52.016 --> 00:36:56.896
Thank you. Someone else I'd mention who has incredible leadership skills is
00:36:56.896 --> 00:37:02.876
Clara Gaff. You know, you think about the work that she's achieved with Melbourne Genomics.
00:37:03.036 --> 00:37:08.036
That is phenomenal, absolutely phenomenal, the work that she and her team have
00:37:08.036 --> 00:37:10.436
led there and really changed.
00:37:10.636 --> 00:37:15.476
They brought a lot of change in regards to how genomics is integrated into clinical practice.
00:37:15.756 --> 00:37:19.496
So, yeah, there are lots of really talented genetic counsellors.
00:37:19.656 --> 00:37:24.136
And I suppose the thing for me is to think about, you know, Claire and I.
00:37:24.934 --> 00:37:29.214
Thinking of retirement in the next however long, is to actually think about
00:37:29.214 --> 00:37:34.254
who are the next emerging leaders and to actually mentor them as leaders as well.
00:37:34.694 --> 00:37:41.814
Yeah, I mean, mentorship, that's really important. And I think that it's beautiful
00:37:41.814 --> 00:37:47.074
to be able to sort of pass that knowledge on to the next generation and to be
00:37:47.074 --> 00:37:48.294
able to kind of share that.
00:37:48.494 --> 00:37:54.694
So, yeah, good luck with that. It doesn't sound like an easy kind of short-term thing.
00:37:55.334 --> 00:37:57.974
No, it wasn't short-term at all.
00:38:00.294 --> 00:38:06.314
And maybe, I mean, another thing that I wanted to ask you about is I remember
00:38:06.314 --> 00:38:12.014
it was probably a HGSA meeting a couple of years ago where, you know, I knew that you had,
00:38:12.194 --> 00:38:16.974
you know, maybe changed focus from like a work point of view,
00:38:16.974 --> 00:38:19.574
but I didn't really understand what you were doing.
00:38:19.574 --> 00:38:26.454
And then you were talking about how you were involved with research and like,
00:38:26.534 --> 00:38:29.614
cause I think a lot of medical research that's happening,
00:38:30.114 --> 00:38:36.094
you know, in every area of medicine kind of includes a genetic component and
00:38:36.094 --> 00:38:43.814
your involvement is sort of helping these researchers give back these genetic results.
00:38:43.814 --> 00:38:48.314
And a lot of the times it's these, what we call like secondary findings.
00:38:48.314 --> 00:38:51.254
I would love to talk to you about that.
00:38:51.494 --> 00:38:56.754
How do you explain to lay people what secondary findings are?
00:38:57.540 --> 00:39:00.460
Really by saying to them so again it's about
00:39:00.460 --> 00:39:03.260
putting it into the context of I always
00:39:03.260 --> 00:39:06.340
think when you have a discussion with someone in genetic counselling it's important
00:39:06.340 --> 00:39:09.480
to think about the likelihood that the outcome will eventuate
00:39:09.480 --> 00:39:14.920
so if you think about secondary findings it's only between one and six percent
00:39:14.920 --> 00:39:20.600
of people who have a secondary finding so the majority of people don't so in
00:39:20.600 --> 00:39:24.960
framing that conversation it's really important to say only a small proportion
00:39:24.960 --> 00:39:29.060
of people will be identified to have one of these findings.
00:39:29.540 --> 00:39:36.780
So put it in context to say it's more likely you won't have one than you will. Although if you do...
00:39:37.744 --> 00:39:41.724
These are the types of things that people find.
00:39:42.024 --> 00:39:46.444
They are conditions where you can actually take action, clinical action,
00:39:46.484 --> 00:39:50.744
to either reduce the risk of the condition occurring or you can,
00:39:50.864 --> 00:39:54.464
there are early therapeutic, I wouldn't use language like that, but interventions.
00:39:54.884 --> 00:39:59.164
Some people wish to know about this information and I would say most people
00:39:59.164 --> 00:40:02.384
wish to know about this information because that's what the evidence shows.
00:40:02.404 --> 00:40:05.804
I'm not trying to sway them, I'm just giving them what the evidence shows,
00:40:05.884 --> 00:40:08.824
although there are some people who don't and some
00:40:08.824 --> 00:40:11.624
of the concerns that people have and then
00:40:11.624 --> 00:40:14.884
say you know is this something you've ever thought about before
00:40:14.884 --> 00:40:17.564
and do you think that this is something you'd want to
00:40:17.564 --> 00:40:20.404
know well 99.9% of people just say yes
00:40:20.404 --> 00:40:24.024
I want to know most people don't have a great dilemma
00:40:24.024 --> 00:40:27.004
about whether I want to know or not it's like yeah I want
00:40:27.004 --> 00:40:30.144
to know and so what we do now is there's
00:40:30.144 --> 00:40:33.524
a group of genetic counselors and we've set up a platform where
00:40:33.524 --> 00:40:36.624
we buddy up with researchers and we provide
00:40:36.624 --> 00:40:39.704
the genetic counselling expertise to help give those results
00:40:39.704 --> 00:40:46.384
back to people who are positive and so we work with researchers all over Australia
00:40:46.384 --> 00:40:52.024
and we help them notify the research participants and then we have a like a
00:40:52.024 --> 00:40:56.584
call center it's tiny with a 1-800 number and the research participant rings
00:40:56.584 --> 00:40:59.504
us and we talk to them about you know.
00:41:00.196 --> 00:41:01.736
When you signed up for the research,
00:41:01.796 --> 00:41:04.056
you might not remember this because a lot of them don't remember.
00:41:04.396 --> 00:41:07.816
They would have spoken to you about there's a possibility of finding something
00:41:07.816 --> 00:41:09.736
and it's possible that that's happened.
00:41:10.376 --> 00:41:14.476
Is that something you'd still like to know? So you sort of reconsent them.
00:41:14.896 --> 00:41:19.896
Well, of course, 99.9% say yes. And then we tell them what that result is.
00:41:20.256 --> 00:41:26.056
But we don't just leave it there. We talk to them about what they can do.
00:41:26.356 --> 00:41:30.476
We refer them to a clinical genetic service and make sure that they actually
00:41:30.476 --> 00:41:33.576
get there because a lot of people fall off during the way.
00:41:34.336 --> 00:41:38.316
We talk to them about family communication, who they might talk to immediately
00:41:38.316 --> 00:41:41.436
about it, what will happen when they go to a genetics clinic,
00:41:41.456 --> 00:41:43.036
all those sorts of things.
00:41:43.296 --> 00:41:46.776
And then we keep in touch with them until they get to the genetics clinic.
00:41:46.976 --> 00:41:52.296
And then we hand them over to the genetics clinic. Yeah. And we also work with the researchers.
00:41:53.183 --> 00:41:56.083
Just to help them write what's called an ethically defensible plan.
00:41:56.083 --> 00:42:02.063
We do consent forms and we do research to evaluate what we're doing from a psychosocial
00:42:02.063 --> 00:42:04.763
perspective and a program evaluation perspective as well.
00:42:05.483 --> 00:42:10.503
Maybe some of these researchers or maybe a lot of these researchers have never
00:42:10.503 --> 00:42:16.683
worked with genetic counsellors before or even kind of thought about this kind
00:42:16.683 --> 00:42:21.563
of idea of informed consent or talking about the giving of results.
00:42:21.563 --> 00:42:27.663
Like, were they sort of, you know, welcoming you with open arms or were they
00:42:27.663 --> 00:42:31.783
worried that maybe you would sort of interfere with their research and,
00:42:31.783 --> 00:42:33.803
like, sort of block things or?
00:42:34.603 --> 00:42:38.443
Both. You get some who are just so grateful.
00:42:38.743 --> 00:42:43.943
It's like, oh, thank God you're here. Like, you know, I know nothing about this.
00:42:44.163 --> 00:42:50.043
And can you help me understand? And so, yeah, work with people like that right
00:42:50.043 --> 00:42:56.463
through to others who, I wouldn't use the word obstructive, but they're very cautious, I suppose.
00:42:56.763 --> 00:43:00.943
Cautious would be the word and their caution can get in the way,
00:43:01.283 --> 00:43:03.203
actually, of us doing our job.
00:43:03.283 --> 00:43:09.003
But that's okay. We just have to, you know, work with them to show them that
00:43:09.003 --> 00:43:11.903
people do adjust to this information.
00:43:11.903 --> 00:43:17.983
They want this information and it's helpful for most people and work with them
00:43:17.983 --> 00:43:20.023
and support them to do that.
00:43:20.863 --> 00:43:26.043
Just going back to that thing about diversity, we're working with a large Indigenous
00:43:26.043 --> 00:43:30.963
research group at the moment and we're not giving the results back.
00:43:30.983 --> 00:43:34.703
We're going to work with the Indigenous health workers for them to give the results back.
00:43:36.350 --> 00:43:40.990
It doesn't have to be us, but we can support other people to give that information
00:43:40.990 --> 00:43:43.310
back to the patients, just as long as it gets there.
00:43:43.470 --> 00:43:46.950
It doesn't matter who gives it, as long as it gets there and they get followed up.
00:43:47.490 --> 00:43:52.790
Yeah, no, that sounds really good. I know in my private practice a number of years ago,
00:43:52.790 --> 00:43:56.390
I was contacted by some researchers that they
00:43:56.390 --> 00:43:59.510
were doing a clinical trial where
00:43:59.510 --> 00:44:03.590
people were living in
00:44:03.590 --> 00:44:06.750
the lab basically for like 10 days and they were giving blood
00:44:06.750 --> 00:44:10.090
and they were having lots of different things sort of investigated but
00:44:10.090 --> 00:44:13.330
one of them was looking at APOE like so
00:44:13.330 --> 00:44:20.610
looking at their propensity to develop dementia and they said to the participants
00:44:20.610 --> 00:44:26.030
we're doing this test but if you know do you want to know the results and when
00:44:26.030 --> 00:44:30.930
they gave that plan to the ethics committee that it was actually the ethics
00:44:30.930 --> 00:44:32.130
committee that said, no,
00:44:32.550 --> 00:44:35.150
these people need genetic counselling.
00:44:35.450 --> 00:44:40.670
So I was really happy that the ethics committees were saying,
00:44:40.670 --> 00:44:46.670
you know, that these people need genetic counselling and sort of encouraging
00:44:46.670 --> 00:44:49.710
that sort of, you know, dialogue.
00:44:50.150 --> 00:44:55.450
And, yeah, I thought that was a good thing. And really a very multidisciplinary approach as well.
00:44:55.450 --> 00:45:01.430
I think the other thing too, just to add to our discussion, is that genetic
00:45:01.430 --> 00:45:05.730
counselling as a profession is becoming more broadly known.
00:45:06.966 --> 00:45:10.446
So there's an acceptance and a greater knowledge of what genetic counselors
00:45:10.446 --> 00:45:15.586
actually bring to the table as well and the benefits of what they do.
00:45:16.386 --> 00:45:21.986
Beautiful. Well, I think that might be a good place to finish up.
00:45:22.386 --> 00:45:24.586
I've really enjoyed this conversation. Thank you.
00:45:25.566 --> 00:45:28.606
That was genetic counselor Mary-Anne Young.
00:45:28.766 --> 00:45:33.466
Such a thoughtful discussion about where genomics is headed and how we can make
00:45:33.466 --> 00:45:35.926
it work better for patients and clinicians alike.
00:45:35.926 --> 00:45:40.746
If you enjoyed this episode please don't forget to follow Demystifying Genetics
00:45:40.746 --> 00:45:45.446
wherever you get your podcasts a big thank you as always to my editor Nick for
00:45:45.446 --> 00:45:49.926
putting it all together I'm Matt thanks for listening and I'll catch you next time.