Demystifying Genetics with Mike Field

In this ninth Demystifying Genetics podcast I discuss Fragile X and other conditions of learning disability with Dr Mike Field, Consultant Clinical Geneticist. Mike has a lovely way of taking complex concepts and issues and explaining in a way that is easy and straightforward to understand. Mike has been involved with many research projects to do with the genetics of learning disability and we spent some time talking about this. We also covered Invitro Fertilisation (IVF) and preimplantation genetic diagnosis (PGD), which are techniques that an individual or couples may choose to achieve a pregnancy and by eliminating the risk of passing a certain condition on to the next generation. We end our podcast together by discussing bioinformatics and it’s relationship with clinical genetics and the future of genetics. 

https://geneticfield.com.au/learn-more/the-team/

Transcript

Matt Burgess (00:08):

Hello and welcome to Demystifying Genetics. My name's Matt Burgess and I'm a genetic counselor in Melbourne. Today I'll be talking to Dr. Michael Field, who is a clinical geneticist in Sydney. If you'd like to know more about genetic counseling, maybe check out my first podcast, which is where I sort of talk more about the profession. But today we're going to talk all about fragile X and different x-linked inherited conditions to do with learning problems. So today on demystifying genetics, I have Dr. Mike Field. So welcome Mike.

Mike Field (00:49):

Hi Matthew. Thank you for having me on <laugh>.

Matt Burgess (00:52):

So you are a busy guy living in Sydney. You work in different areas of genetics and in the past we worked in familial cancer together. But what I'd really like to sort of talk about today or, or focus on in this podcast is the, the genetics behind learning disability and sort of intellectual disability and that sort of area that you work in. Maybe to start with, can you sort of tell me what you are you are sort of currently working on at the moment?

Mike Field (01:26):

So we work with families where there is a significant intellectual problem in their children. And usually we are working with families where there is there are multiple affected individuals in the family where we think that this may be much more likely to be genetic. So at the moment we've got a few things that we are working on or just about to publish. Just found a gene that causes a type of carbohydrate glycoprotein deficiency, uhhuh <affirmative> in one large link family. And we're working on some other copy number changes. And we're also working on some stuff that looks at how that the non-coding d n a may affect some genes that cause learning problems as well. So it's pretty broad at the moment. Matthew.

Matt Burgess (02:17):

Wow. Let me just write that down non-coding, cuz I think I have to come back to that, but maybe we need to talk about the more, the sort of easier stuff before we get to that. I guess when I think of sort of the main condition in this area at sort of fragile X can you tell me a little bit more about you know, what Fragile X is and sort of the, the main sort of presentations that you see in, in the clinic?

Mike Field (02:48):

Yeah, sure. So, so you're right, Matthew Fragile is probably one of the most common conditions that we see in our service. And it's a learning disability that particularly affects boys but is often inherited through their mothers who may be asymptomatic carriers. And that's the pattern that works for things a little bit like muscular dystrophy or hemophilia uhhuh. So fra fragile X typically with boys when they're affected causes a a fairly significant learning problem. That means they're likely to need to be educated in a, in a smaller class when they get to school, uhhuh, <affirmative> and often have a lot of trouble developing early language. And so it's not uncommon that their language is only starting to develop around the age of five when they start school. They, they, they can be, they can be incredibly anxious in some situations that they're not familiar with.

(03:48):

 And that anxiety may sort of boil over into behavioral problems and behavioral issues that are hard for the family to deal with. Sort of meltdowns, uhhuh, <affirmative> the, the, the a as the boys get older, they may have some particular sort of facial features that you can see when you look at them. So they're, they may have a larger head size or hat size. They may may have a, a longer thinner face and may be a little bit low muscle toned. But it would probably be, usually would be the, the pattern of learning problems and the inheritance pattern in the family that will give us a clue. Of course. Now most people that have a significant early developmental problem or learning disability, boys or girls will often have a fragile X test, a DNA test. And so sometimes we don't pick people because of how they look, but more often we're picking them because of the testing that pediatricians do.

Matt Burgess (04:44):

Yeah. So, yeah, sort of in my experience when a little one is having problems with their developmental or learning that, you know, the mum takes them to see the GP and then the GP will refer them to a pediatrician and the pediatrician sort of does the, the initial kind of screening tests and a lot of the time that sort of comes back normal and, you know, then they see a geneticist. But sort of more and more with the sort of the, the more complicated chromosome tests that the doctors have got access to now sort of more and more things are being picked up.

Mike Field (05:22):

Yeah, that's definitely right. Definitely it's getting more complicated, not less.

Matt Burgess (05:25):

Yeah. And, and a lot of the research into you know, the genetic nature of intellectual disability or sort of learning problems they all sort of talk about x-linked inheritance and sort of being linked to the the X chromosome. Do we know why that is?

Mike Field (05:50):

Well, so boys I dunno whether you've got a podcast about chromosomes that'll help your listeners. But most of our chromosomes come as partner peers except for the sex chromosomes, which are different between boys and girls. So girls have two sex, two ex chromosomes. One they get from their mom and one they get from their father. But boys only get a single copy of the X chromosome and the other chromosome that makes them male, the y chromosome they get from their father, the Y chromosome doesn't have as many key genes on it as the X chromosome. So that means that boys often only have one chance of getting a, a healthy or a good copy of genes on the X chromosome, which makes them a little bit more genetically fragile, I guess. Mm-Hmm. <affirmative> to some health problems. So we said muscular dystrophy and hemophilia. Of course, the important thing is when you find a an X chromosome problem, the important thing is you think about are they other females in the family that may also carry that, but be unaware so they can understand what that might mean in a future pregnancy or, or, or have access to making different choices when they come to have babies.

Matt Burgess (07:04):

Mm mm Okay. And you work with a, a lovely bunch of genetic counselors and, and other doctors, and one of my favorite genetic counselors is Louise Christie. And she, she was my mentor when I was at uni studying genetic counseling. And I was really proud of an article that she was first author on that you know, some research that you were, I think you were final author on actually about newborn screening with Fragile X. I'm just wondering if we can sort of talk about that for a little bit. I think as a person or you know, sort of superficially you kind of think, oh, you know, newborn screening for a condition like Fragile X sounds fantastic, but it is a little bit sort of controversial and yeah. Can you tell us a little bit more about that kind of what, what that study was and what you found out? Yeah,

Mike Field (08:08):

So so newborn screening is u we usually use newborn screening to detect conditions where we know there's a very specific treatment or management that allows us to make a, a, a sort of an intervention early on in life that either sort of reduces or removes the risk of health problems going forward. So fragile X isn't something where recognition allows us to obviously totally mitigate those symptoms, but obviously being aware you have a child with Fragile X would mean that you can you, you can start early intervention earlier that you're not, you're not uncertain why your child isn't developing as quickly as other, as other children. But that does come at a cost of finding out very early in life that is in quite devastating years. I guess the reason we thought it might be useful is that we, we do know that about 50% of families will have had a second child by the time their first child is diagnosed with fragile X.

(09:12):

Wow. And so the, the risk of, you know, a delayed diagnosis till your, I mean, the average age is still about about four to five mm-hmm. <Affirmative> means that it's quite possible that you've, you know, you've, you've claimed more children and unfortunately you've had another affected child in the meantime. So it was a little bit about, about the access to information for future prevention. There's similar things been done in the UK for muscular dystrophy where they test the newborn babies for their level of a, a muscle enzyme. And the same principle was there. They, they may start they probably won't start any different therapy early on but they, the families are aware that they're at increased risk. I guess coming back to your other question, what do we find in the study? Well, we found that of, of the 200 of the thousand boys and the thousand girls that we tested in the newborn period, we found that about two out of about two out of a thousand males were carriers, which means they didn't have full blown fragile eggs, but they had a slightly unusual copy of the fragile X gene that one day could cause a problem in future generations of their family.

(10:28):

Yeah. And we found that about, about one, about one in 200 females were also a carrier for the fragile X premutation, which is a, a gene that may be unstable, but we definitely found no children with fragile X. And most of the people that we found that may have been carries of a, an unstable copy of that gene didn't look as though they were gonna have babies any time in their family in the next few generations with that condition. It still looked like it would be a long way off, if at all. So it was more a, a, a proof that you could use a, an existing technology to do screening. But I think now you've got a colleague down in Melbourne, I I called David Goler, who's really taken the ball by the horns and is using a slightly different technique that doesn't detect people that may one day in their family have a risk but only detects affected children.

(11:25):

And he's doing a very large scale trial now, looking at the marker, a marker of, you know, affected Fragile X only. But he's doing that in about a hundred thousand blood spots from newborn babies that have come in around the state in the last, you know, four or five years uhhuh. So the technology is there to do this how, how you deliver that and, and what the absolute benefits are is, is sort of still to be. And I guess we're living now in an environment where people are looking more and more at early pregnancy screening or pre-pregnancy screening to find carriers. So that may become less important over time than we thought it would be you know, nearly seven or eight years ago when we did that research. Yeah.

Matt Burgess (12:12):

Yeah. So I guess maybe we, we've spoken about it in the wrong order, and maybe I should have sort of explained a little bit more about what newborn screening is, but basically every baby that's born in Australia when they're still in hospital a couple of days after birth the midwife will take a little blood sample from the heel. It's usually called the heel prick test. And that little drop of blood is put on a piece of filter paper, and that filter paper goes to one of the, the children's hospitals around Australia and genetic testing has done. And I think that, you know, people that have had children understand, or they, they're aware of this idea of newborn screening, but a lot of people in the community probably don't know that most people in Australia have already had genetic testing and they, they just kind of don't know about it.

(13:06):

And I think, you know, most people get a, a negative result or, you know, they don't get any result, which means that it was negative. But obviously there are some babies that are born where there is a positive result. And usually that means that it's for a condition where if you do something straight away, it can kind of change their outcome or their, their management. And that's sort of what you were saying with fragile X maybe their management isn't changed straight away, but a lot of the families sort of still said that this was good information to know.

Mike Field (13:39):

Yeah, I think that was the other thing from the study, because we explained why we'd want to look for the condition, even though we might not have a, a more sophisticated treatment most families, more than 90% of people that were offered be tested that they thought it would be reasonable to know that early, and they would rather know that early. And and you know, there was, when we sort of surveyed them about their attitudes, I think overall there was, it was positive, there was a positive uptake and positive response to the testing. So it was really sort of sampling how people in the community would feel about that approach. And it was also a little bit about how how could the techno, how well we could get an existing technology then to work that was a possible way of doing newborn screening. Probably not sophisticated enough to do it across the whole of Australia at that stage, but the testing now that's coming in with David Godless certainly is. So yeah, you're right. Had a few facets that study.

Matt Burgess (14:44):

And, and so when do you think is the right time in someone's life to to have carrier screening?

Mike Field (14:53):

So if, if you are, so if you're a girl in a family with fragile X and you're and you're, you, we think you might be a carrier, then obviously we're saying you could be at risk of a future pregnancy affected by fragile X and you might want to know that when you're family. The, the, the literature, our approach in the genetics community probably doesn't match with the feelings of the family, Uhhuh <affirmative>. Most most geneticists try to leave carrier testing till you are at an age when you can understand and consent to that. Obviously there are some, if we leave it till the age of 18, there are some girls that feel, you know, that may already have had a pregnancy an unexpected pregnancy, and we have seen that. And that obviously only adds to their distress going through a carrier test at that stage.

(15:54):

Mm-Hmm. We, we, we would be guided by the family, guided by the contact we have with the family, but it would have to happen at a time when the you know, the young adult is capable of understanding what's going on and receiving the results and it having some meaning. The, the families though a lot of research has been done about timing of fragile X testing in families. And I think most, some of the literature seems to support it being easier to grow up with the knowledge than to be that, to be forced upon you at 18 or 19 when as an adolescent all you want to do is fit in and seem the same as everyone else. Whereas if you grow up with the knowledge it becomes sort of integrated into your your, I was gonna say your dna, but you're sort more aware of it and, and, and your

Matt Burgess (16:51):

Sort of concept of self

Mike Field (16:53):

Self. Yeah. That's perfect words. Thank you, Matthew. That's great. Yeah. So yeah, there, there are some pros and cons of there are some pros and cons of both approaches. Obviously the, the individual, the individual needs to be aware enough and it needs to come as a request from them. And and, and it needs to be done delicately, but most people will appreciate it being done at a time when they've got close support around from their family around them. And, and, and a lot of the literature says that the families think they would rather have had it earlier rather than later.

Matt Burgess (17:30):

Yeah. It kind of seems like a, a a, like a bit of a, an easy question and but you know, it is complicated, you know, is this public health or is it private? And so if it is public health, well then there's, you know, the public tax paying dollars that are paying for this, so we should do it in the most efficient and, you know, the most cost effective way. But then sort of what is the most pragmatic way in a family? Like, is it better for children to grow up knowing this information? And if they do, you know, do they still remember it when they're going to have children? But, and you know, I've kind of spoken on some of the previous podcasts about carrier testing in the Jewish schools with the Jewish communities and how you know, there's been a, a program testing you know 16 and 17 year olds. And some people thought that that was good. And now some people are sort of moving away from that because people forget their results and then they end up having to have new testing anyway. And the technology's changing and, you know, should we wait until people are thinking of having pregnancy or, but then some people fall pregnant and, you know, they haven't sort of planned for it. And so I don't know if there is kind of a, a straightforward sort of answer there. Is there?

Mike Field (18:53):

Yeah, I, I, I don't think so. I think the only thing that probably would be clear is if you had a, you had a sibling with fragile X and you were keen for testing. I think you are, you know, it, it, it's a lived experience. I think you are unlikely in that family to forget your fragile X result. And I guess the other thing to say, Matthew, is we wouldn't be just test, we would only be testing in the setting of unknown family history, someone who's affected by Fragile X. We certainly wouldn't be testing other females you know, before, before they were sort of adults in any other situation. Mm. And it would be definitely as older adolescents, not as not, not usually not as young children. Okay. Unless, unless we had some concern about their development that they may also be affected. So, you know, there are, you know, there are issues around obviously getting appropriate support and intervention, understanding best possible treatments if you are, even if you're a female, sometimes they do, they are mild, more mildly effective, but they can be affected. So sometimes it's disclosed inadvertently when you're testing because of a symptom. Mm-Hmm. So, yeah, there's 1,000,001 answers to that question. Unfortunately, Matthew <laugh>, none of them are, none of them are perfect.

Matt Burgess (20:10):

And then, so I know that sort of you, you work with lots of families and, and more and more of the families are getting diagnoses, but there are still families on your books where you think that there is definitely something genetic going on and something inherited that's sort of running through the family. You know, do you still have a high, you know, a percentage of families that are like that? And are you hopeful that you will be able to get a, a genetic diagnosis for them?

Mike Field (20:41):

Yeah, so we just look back at our records for the, for the larger families. We, we started off like well, our colleague who started the service started off life first recognizing and describing the fragile condition we've already talked about. And in the process, she collected a large number of, she collected samples from a large number of other families with a similar pattern of inheritance is sex pattern of learning in learning difficulty or inheritance. And, and when we look at those families that, you know, we would be pretty confident have a, a, a sex pattern or an X-linked pattern of inheritance we we see that about 70%, maybe 75% of the families are now resolved if they've had the most you know, the most thorough testing that we can offer them today. And that, that's, that's obviously if they're X-linked or sex-linked, that's, that, that number comes from mm-hmm.

(21:40):

<Affirmative>, but there's about, there's about 25 to 30% of families that don't seem to be easy to resolve with the, with the standard testing that's now coming into genetic clinics. So some of the reason for that is that there may be there may be very small missing parts of a gene that we can't we can't see with our current technology. We can see single, single spelling changes in the gene, but we, and we can see whole genes that are missed out, but we can't see when maybe a part of a gene is missing mm-hmm. <Affirmative>. So there are two weeks now that can look for those things. Mm-Hmm. There are also some families where we know that the, the gene, which is a bit, I usually say is a bit like a book and broken up into chapters. We know that a lot of people when they have a genetic fault, have a fault inside the, inside the chapter.

(22:35):

 And that's what we read. We read the chapters of the book and make sure there's no spelling mistakes, but, but sometimes, you know, there can be something wrong with the outside, all the chapters with the cover of the book or the way the book opens, or that we don't see if we just read the chapters themselves. Mm-Hmm. <affirmative>. And that, that's the sort of thing I was saying about looking at the non, the non-coding, the packaging DNA that goes around the genes. It tells them how to work and when they need to be active and when they need to be inactive. So we certainly have now found a few families possibly up to about 5% of our cohort that seem to have changes in the D N A that influences the way gene works, but it's outside the traditional areas that we'd normally look when we test a gene. Mm-Hmm. If that makes a little bit of sense for your listeners, <laugh>.

Matt Burgess (23:27):

So, you know, like when I was at uni and learning about genetics we were told that there was the genetic code that was you know, the, the coding part of the gene, and then there were other parts of the gene that were non-coding or other parts of our, our genetic makeup or our genome where it was kind of just referred to as junk dna. So what, what you were saying just then, does that mean that it's not junk and it's not non-coding, like it does actually coat, or it, it influences or, I mean,

Mike Field (24:02):

Oh, I think influences is a good, is a good word, sort of influences how the code, if the gene is read, I think, yeah. So there are bits at the front of the gene that aren't really part of the code of the gene aren't really one of those chapters of the book, but they influence how the, the code can be how the code can be used to make a protein uhhuh <affirmative>, how it can be transcribed. We, we know that there are some, there are some spots outside the genes that where what we call, we just use the word transcribed, but we, we have some spots outside the gene where certain factors will bind to the DNA called transcription factors, uhhuh <affirmative>, and they'll switch the gene on and off. And so we certainly, we also know now that one of our families has a problem with a, a site where a transcription factor is based to bind, to set the gene working. Cuz it can't bind there. The gene's more silent than it should be. It's not as active as it should be.

Matt Burgess (25:02):

Not turned on. Yeah.

Mike Field (25:03):

Not turned on. Even fragile X really, even though you don't think about it, is a, is a non-coding genetic problem. It's not in the code of the fragile X gene, but it's in the, it's a, the region in the promoter that gets switched off. Yeah. So, so we're just, just as we've learned more and more about genes though, which to start with, we've always started with the, the chapters of the book without looking at the context of the whole gene. So there, there are now ways maybe with some of our bigger families where we've got a, we have a good idea where the genetic change may be we can use that information plus everything we know about how genes work to try and find some of those more mysterious, those harder to understand mutations.

Matt Burgess (25:54):

Mm-Hmm. Okay. And, you know, I'm sort of taking it back to you know, the application and I'm, I'm thinking of the families and, you know, some of these families were recruited, you know, literally decades ago. What's it like sort of contacting the families and saying, you know, I, I know we haven't seen you since the nineties, but I think we know what's going on in your family. Like, are they surprised, are they grateful? Are they shocked or

Mike Field (26:24):

I would say it's a mixed bag. Most of the families that we are working with, though we are, we are still in, we are still in good contact with them. And we, they, we've sort of established that they're still interested in getting information, uhhuh, <affirmative> and, and, and it's obviously information not maybe for the family, the part of the family that approached them, but for their daughters or granddaughters now. Yeah. in, in in general terms, the families are we, we've answered a, a lifelong question for some of the families. And so for some families it is as important as the day they answered that question. For other families, they've moved on a little bit. But yeah, it, it's variable. But for some of the families it's still very powerful information, especially, and we do know that a lot of the younger family members are now starting to use what we've learned to find out whether they're a carrier, whether they need special testing in a pregnancy mm-hmm.

(27:25):

<Affirmative> or to have different ways to start a pregnancy, either IVF or, or looking at early testing of the pregnancy to make sure they haven't got an affected child. So I think overall, most of the families that we go back in contact know, know that we are still working on their sample and know that, and have asked us to continue working on that. So it's not a total shock, but I think they've sort of given up. They, a lot of them have expected we will never tell them an answer. So it's a good shock. I think <laugh> a good surprise.

Matt Burgess (27:59):

And one thing I I don't think I have covered much on, on this sort of podcast series is IVF and pre-implantation genetic diagnosis. And I think that's what you were sort of just alluding to just then, but do you mean that when the genetic mistake or fault or changes found in a family that women and couples can actually use that to achieve pregnancies that are unaffected?

Mike Field (28:30):

Yeah, that, yeah, exact exactly right. So they use the code, the, the error that we found in the genetic code. We can monitor, we can measure that either in the developing embryo before it's put back through an IVF technique called pre-implantation genetic diagnosis, or, or they can find that information early in a pregnancy at the end of the first trimester of a pregnancy currently. But perhaps that, you know, that time is gonna come back even further mm-hmm. <Affirmative> after the first, you know, eight to 10 weeks of a pregnancy in the future. Wow. yeah. So yeah, so we're a lot of families because of the impact they've seen with maybe a mother raising multiple affected boys and still caring for them into the future, and yeah, they're very keen to understand what their risk is. Many of them have a, have elected in some cases, unless they can find an answer not to have a pregnancy, not to take that risk. So it's really, really important information. And those people that we find are not carriers whilst they've often held off starting their family, we can see we, we have seen in the past anyway, there's a very quick move, you know, change in their planning. So in the next, in the following few years, quite a lot of them are having pregnancies, you know, relieved to know that they're not at increased risk.

Matt Burgess (29:59):

Yeah. I re I remember I went to a conference a a couple of years ago, and another one of your lovely colleagues Jackie Boyle genetic counselor presented that information. And I just thought it was fascinating that obviously there were these families out there where the young women who were at risk of being carriers were all really mindful or concerned about, I mean, even if they were saying that they weren't concerned, you could see that there was obviously something going on there because of the number of, or the lack of pregnancies. And as soon as the re the results came out that they weren't carriers or that you know, testing could happen, that there were all of these pregnancies. And yeah, I thought that was fascinating research. I really enjoyed learning about that.

Mike Field (30:48):

Mm-Hmm. Yeah. Well, it, it shows that for at least for some of our families, what we find is, is not just for our scientific interest, but is also vital importance to the families to make choices for the future. They're sort of voting a little bit with their feet, if you like. But yeah, clearly it's you, we, I guess in the longer term we always hope, and we have hoped with fragile X, that as we understand more and more about the condition, that we will get more specific or targeted treatments that just aren't treating the symptoms. So as we understand more about biology, like we are in the cancer space, understanding more about the biology of cancer, we're getting more and more sophisticated treatments. Maybe we can expect similar things in the future for learning disabilities. So in the future, the research might lead on to much better treatment or management for families that are affected. But at the moment, one of the key outcomes is that people can either be reassured that they're not at risk and hopefully go on and have a family they've always wanted to have or, or they, they can, they can make that choice in a pregnancy. And a and a lot of people that we're in contact with, which is why we're in contact with them, do choose different ways of, of starting their family. So they try and avoid having another affected male.

Matt Burgess (32:04):

Mm-Hmm. So, changing topics slightly I kind of wanted to talk a little bit just before we finish up about bioinformatics. I was kind of thinking about sort of the evolution of genetics and, you know, when people have a genetic test we take a biological sample and most of the time that's a blood sample, but it could be you know, a saliva sample or a cheek swab or but it's sort of like something biological. But in a lot of areas of our lives, things are becoming more digital and somewhere in that pathology process that genetic information is taken from a biological sample and sort of is made into some sort of digital information. And that is an area of medicine that is kind of exploding that people don't often think about. And I know that you've sort of had some interest and extra training and, you know, sort of involved in that area. I'm just wondering if you can tell me a little bit more about that.

Mike Field (33:17):

So I guess by bio bioinformatics itself is not always about sort of DNA testing, but it's about, it's really about how you can take a large data sets and, and try to understand a little bit more about a biological problem. And usually it means the dataset is so, and I, dataset may be the wrong word, it may be a bit technical, but when, when you take a whole lot of information about a bi from a group of people with the same biological problem, you are then trying to piece together what's, what's common about them and, and therefore what may be driving their condition. But it's usually the, the information is usually so vast, the number of points that you're looking at. It's not really something you can search manually. You need a computer to somehow search through that information for you. Mm-Hmm. <affirmative>.

(34:10):

So, so when it comes to when it comes to genes that cause learning difficulty, now we, we probably have over 2000 candidate genes that may be faulty in some kids with learning problems. And there's probably close to a thousand well-characterized intellectual disability genes. That's, it's almost a mammoth task. It would've seemed a mammoth task even five years ago to believe that we would be looking at, at all those genes. And then searching to make sure there's no typing mistakes in them. But now with computerized tools, we, we can, in a, we can do something that would be almost impossible to do if it was just manually done by an individual. Only we can look at the code of all those genes and try and sift out what is most unique about that sample compared to all the others. So hopefully it, it, we, we get to a smaller number of points that we have to look at to try and decide how they could influence someone's learning problem.

(35:19):

 But exactly what you say, you'd start with a for, for, for genetic testing. Now you start with a, a dna, a chemical sample, and you do a chemical based test, but that gets turned into a, into a digital readout or a digital imprint. And that imprint, you can, you can store and you can look at again and again and you can look at it in lots of different ways. And so people are also devising new tools, computerized tools, to look at that data in a more and more sophisticated way. So we understand really more and more about what the data is trying to tell us. Sometimes though, because we just aren't aware of things when we look at the data for the first time it's not clear why there's a problem. But if we go back to that data, the same data in another two or three years with extra information or with different techniques, we, we can often re-identify, we can often identify a, a genetic problem that was, that surveyed us for so many years. Yeah. Mm-hmm.

Matt Burgess (36:24):

<Affirmative>. Wow. Excellent. So just to finish up, where do you think genetics is going? I know you've sort of, in your career, you've seen a, a lot of changes and you know, how things have sort of evolved over time. Do you have any sort of sense of what's to come?

Mike Field (36:46):

Ooh. 

Matt Burgess (36:48):

Big question.

Mike Field (36:50):

Big question. Yeah. I, I, I would've thought that I think there will be more people using genetics in their medical practice uhhuh, and that we will, we will really need, we will need to be experts at upskill other clinicians in different areas. I think we are going to be faced with a, an avalanche of genetic information. And I think that the, the, the most challenging aspect will be to try and ensure that genetic information is not over interpreted by people that are less familiar with the techniques or technologies or the complexity of that information. I think, I think we'll have to try and protect people from you know, over interpretation of their information and doing too much screening in the future. But I, I, I guess I can see this gene becoming more and more part of mainstream care from pregnancy care to care of people with cancer, to, yeah, all, all sorts of areas of medicine, even selection of you drugs avoid avoidance of adverse responses to drugs. Mm-Hmm. <affirmative>, all sorts of things may be part of people's genetic healthcare in the future won't necessarily all be driven by us, but I think we'll have to try and help people not make too many mistakes along the way. That's probably what, what our job will be.

Matt Burgess (38:25):

I, I agree, but Sounds like we need more genetic counselors.

Mike Field (38:29):

Yeah, absolutely. Matthew <laugh>, like, we've got you <laugh>. I agree. I think we will need a lot more genetic counselors and and, and we're all gonna have to learn new skills things that we haven't necessarily seen as our remit. We will have to become more and more sophisticated genetic counselors, clinicians Yeah. About interpreting genetic data and understanding its complexity and, and trying to put safeguards in that means that we don't over interpret something that ultimately turns out to be quite common.

Matt Burgess (39:02):

Beautiful. Well, let's finish there. Thank you very much, Mike for talking with us today about the genetics of learning disability. I've, I've really enjoyed it. I'm going to put together a, a fact sheet and sort of make some notes and have some links to different fact sheets about what we've spoken about today. Yeah. And yeah, if you have any questions, you can get in touch with me through my website. But thanks Mike, and I'll talk to you later.

Mike Field (39:34):

It's been a pleasure. Thanks Matthew, for talking to me. Okay,

Matt Burgess (39:36):

Then. Bye-Bye. Bye.