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Presented by the El Paso County Medical Society and hosted by Kathrin Berg.

What type of health conditions are inherited?

Why is it important that we pay attention to our family history?

Pediatric genetics focuses on diagnosing and managing genetic disorders in children all the way from birth defects to developmental delays to diagnosis to specific conditions, in order to treat them properly.

What goes on in the process of genetic testing, and then how do we deal with those results after the testing?

This evening's program is underwritten by the El Paso Children's Hospital, and we also want to thank the El Paso County Medical Society for bringing this program to you.

I'm Kathrin Berg, and this is the El Paso physician.

Neither the El Paso County Medical Society, its members more PBS El Paso shall be responsible for the views, opinions or facts expressed by the panelists on this television program.

Please consult your doctor.

Thanks for joining us.

I'm Kathrin Berg, and this evening we're going to be discussing it.

Pediatric genetics.

What does that mean exactly?

We have two guests with us.

This evening, Doctor Maria Ethel Aguirre, and she is a pediatric geneticist.

Not something you get to talk about every day.

So I'm very excited that you're here.

And we also have Michelle Ngyuen, who is a genetic counselor.

So you guys really work in tandem with each other.

But for our audience, who doesn't understand what the pediatric geneticist does, it's a mouthful to say that.

Explain to us what that study is.

What do you do all day, every day?

Basically, I see patients, pediatric patients that come with a specific concern.

They probably from the pediatricians office or other subspecialist.

that have told them maybe what they're experiencing can be due to a genetic condition.

They come with that concern.

I would do a full assessment, meaning physical exam, medical history.

Based on that, I determine what are all possibilities.

Kind of came up, come up with a list of choices that could explain what's going on with the patient, and then got our team work with Michelle here and we decide on a game plan.

What's the best testing strategy was the best way that we can try to find an answer to the patient.

And I like that too.

We were talking a little bit prior to the program beginning and I was thinking, okay, what questions do I ask of Doctor Aguirre.

and Michelle?

What questions do I ask of you?

And I love how you answer.

It's like, well, we see each other together.

We see patients together.

So there is the counseling portion of once you receive any result, like any kind of a health testing result, then there's that moment where you're listening, but everything's just going right beside you.

So as the counselor, how would you describe what you do all day, every day in comparison with this?

Kind of just like now we're talking about genetics, what that means.

And a lot of patients don't know at all what genetics is.

So I break that down so they really understand every step of the process, what we're looking at.

And then after when we receive results, I break that down again so they understand the implications.

And so we can just talk and cope and manage together.

Okay I like that talk and cope and manage together.

I'm going to ask you, Doctor Aguirre, we talk about there's a myriad of questions asked tonight, but how do we first get to that first point where someone says, you know, I wonder if, for example, you're the pediatrician's office and there's just something that's not right, not clicking with your child.

When does a referral come in for someone to come see you?

For a parent to think, okay, it's it's maybe I should bring my child to someone who does study genetics and see what might be the issue here if this is a genetic condition.

And you said earlier, once you kind of know what it is, then you know how to go forward with treatment options.

So what is that?

That sweet spot of.

Maybe we should go see Doctor Aguirre.

There are some red flags that most pediatricians know.

During.

Like they learn during training.

Things like developmental delays, intellectual disability, like not learning at school, but not your usual ADHD.

But actually special education type, other system problems, fractures that are unexplained or it's seizures.

There's like, hundreds and hundreds of types of symptoms that bring that red flag.

And now the red flag is a specific physical exam.

Finding some big marks would make a pediatrician trigger that, oh, it's genetic or family history.

Are we seeing two siblings with the same presentation?

Is that something that maybe runs in the family or new in in this generation, or we are seeing something that's coming even like that has the same problems.

Mom has the same problems.

So those are different red flags that would make a pediatrician or some Subspecialists think was sent to genetics.

And so now that they've got to that point where, and I'm going to ask maybe currently of the most common things that you find and I'm, I don't know how to ask about the ages, but when you're talking about developmental issues, when is this?

A couple of months after someone's born.

I mean, some things, you know, right away, you know what?

I'm going to change my mind.

Let's start with the stuff that you see right away, because that's just a chronological, organic way to see this.

Right?

So we have someone who's brand newly born, nothing was seen or diagnosed or paid attention to prior to the birth.

But now there's a birth and there is something going on.

Give me some of the some of the most common issues that you see as a geneticist in that situation.

Abnormal newborn screening.

Okay.

And that could mean so many things.

So an abnormal newborn screening, that's your first fix is a test that everybody gets when they're born 24 hours of life with an otherwise normal pregnancy birth history.

But if the newborn screening flags something, they need to see a geneticist.

Okay.

And what are some of the most common things that are flagged when someone is newly born?

Oh, there's a number there.

It can be a problem where a baby cannot process certain types of protein very well.

So, it's the one of the most common is called 3-MCC deficiency, or that's the chart because it's a very.

It's a mouthful.

Okay.

Yeah, I've got several here.

There are mouthfuls.

I'm like, okay, that's not here.

So that's perfect.

Let's talk about that.

Yeah.

So trim CC the efficiency is one of the most common because historically it was a very severe disease.

But as we introduce it into the newborn screening, we found that there are very mild versions of it.

Okay.

And it's processing proteins as they're eating is that correct?

Correct.

Okay.

And so what is happening to their system.

Is it just rejecting proteins.

Is it not processing it.

Well, and actually I'm gonna ask Michelle here because this is where families are probably now we kind of figure out what the diagnosis here.

And now we're asking Michelle, the counselor, of how to kind of work through that condition.

Yeah.

Like you just got a new baby.

We're celebrating.

We want to congratulate them.

That.

Wow.

When sudden changes happen days or weeks after birth, that's when you gotta take a step back and say, hey, this is something we're concerned about.

But now that you're here with genetics, we have steps that we're going to need to take.

Okay?

So with finding out what the genetics of that condition would be, what is the testing then that would go along?

I'm assuming a blood sample.

There's clearly blood.

Tell me.

So that's good, because anytime you have to poke someone, it's a little hard to do.

We try to avoid it in kids in general, in pediatrics.

Being pediatric trained, we avoid it.

The cool thing about genetics, you have your same genes everywhere in your body.

So we can get a saliva sample and analyze that for your genes.

Okay, now, the newborn screening does require some biochemical follow up.

Those do need blood.

Okay.

Sometimes we can get away with just doing genetics, which is basically a buccal swab.

I kind of love everything about that.

So let's talk about some things that you can see right away.

And I read an awful lot today about hearing loss.

And that is something that's genetics.

Are you laughing at my notes?

Are you because there's only 25,000 pages here that I do for research?

But I'm trying to stick to some that are that are easier to, I guess, from the onset.

See, so hearing loss is visual that you can't really see right away or can't detect that right away.

But hearing you can.

So let's talk about hearing first and then let's talk about vision.

Because I also have a case study of some individuals who the vision loss was very much something that happened with I think three of the four siblings.

So hearing loss, how is that genetic?

Whoa.

Yeah.

Yeah, I know I that's the one I keep hearing.

I mean I keep looking up.

So hearing loss hearing loss hearing loss hearing loss is a very cool one okay.

Hearing loss is actually part of the newborn screening.

So there are those are some referrals that they get first to the audiologist office and then two hours.

But by the time they came they come to us.

We do genetic testing.

If we think about hearing loss we need to divide it in like two brackets or that's the way we usually think about it.

You're talking to a geneticist.

We believe everything's genetic.

A mother is a matter of more like, can we find it or not?

But thinking about genetic hearing loss, you can divide it into syndromic or non syndromic.

Okay?

Syndromic means it's accompanied by other symptoms.

Other problems in their body.

Non syndromic is just hearing loss.

The baby is otherwise growing fine.

The developing fine, no other problems.

They can both be genetic okay.

We usually find a genetic cause we're hearing loss with our current technologies in about 50% of cases.

So here's the big question that I'm going to ask throughout this hour is when you find out through the testing that something is genetically something that's been passed on.

I get that for the siblings and for when that person gets older, when they have children.

But right then and there in that time, to know something is genetically passed on versus another way, is the treatment option different, and if so, how does that make sense?

Like where is the, we know now this is cause because mom had a gene that ABC and maybe her mom did, too.

Is there where are the treatment differences there when it comes to genetics, it doesn't necessary really depend if it's inherited or not, because there's a lot of conditions, most of them that can happen.

de novo, meaning the parents do not have it.

The treatment options, is more base and genes specifically.

Right.

So there are some genes with hearing loss that have specific gene therapies now.

But it's just that gene.

So that just excited me.

Gene therapies.

Yes.

You talk about some gene therapies.

I'm going to go through this one.

I'm going to send you I'm going to give you the piece of paper when I can't pronounce it.

So we have here, obviously developmental disorders.

That's going to come on later.

These are very common genetic disorders that I have autism spectrum, which you probably can't see right away.

Down syndrome, cystic fibrosis, Tay-Sachs disease.

So I said that, right?

Yeah.

Sickle cell disease, fragile X syndrome.

I have no idea.

Duchenne muscular dystrophy, a type of muscular dystrophy.

And the other two.

I'm not going to try it.

Well, neuro fibrosis.

Neurofibromatosis, neurofibromatosis and the Phenylketonuria.

Thank you very much.

Nice to have you here.

So of these common genetic disorders now we know that this is genetics.

And to find out what they have is that sometimes what you have to do is find out what their genetics are to diagnose what these are, not necessarily okay.

Some of those have clinical diagnosis, okay.

Like neurofibromatosis type one, which for short we say.

And if one that one is diagnosed clinically doesn't need to have a genetic confirmation.

Sickle cell disease can be diagnosed on specific blood findings, not necessarily genetic.

But cystic fibrosis can be diagnosed with a sweat chloride test.

So it's again a different type of test.

Not necessarily genetics.

I mean, the genetics help, but they're not needed for the diagnosis.

Okay.

So I just saw Michelle doing a big head nod.

So on that note, when people come to you all and are asking, okay, I have this condition, do I go for further genetic testing and if so, why?

And that that's the big question for you.

Why the genetic testing?

I was nodding because as Dr.

Aguirre was describing some conditions don't even need a genetic diagnosis.

On the other hand, some conditions it's so useful to have a different diagnosis because depending on the gene, could have an increased risk for different types of presentations or respond better to certain medications or therapies or management options.

So that's what I'm looking for.

Yeah.

So why the genetic testing and why does it matter.

So to your point now we have a specific issue.

And they you have found through research through years that now this responds better to A, B and C if it's genetically passed on or off or not.

Do you have any case studies, any any conditions that you have in the back of your head that you've dealt with that you can talk about?

That'd be great.

I was thinking of Beckwith-Wiedemann Different types of genes are associated with that can cause Beckwith-Wiedemann.

Okay.

Say that really slowly and louder.

Beckwith-Wiedemann Beckwith-Wiedemann.

Yes.

Okay.

All right.

And that is what.

I feel like I'm being tested.

And, well, since our show is all about genetics and pediatrics, I'm trying to get to the heart of everything that we're we're talking about.

Beckwith-Wiedemann cam present with so many different things, differences in growth, depending on the side of the body.

So, like, if there's an overgrowth in one side, it's called hemi hyperplasia.

There's tumors that can be associated.

And to my point, depending on the genetic diagnosis, the specific gene associated with Beckwith Wiedemann, there can be a higher risk for certain types of tumors in kids versus other genes that have a lower risk of tumors, okay.

And tumors be more specific, like and certain certain areas of the body.

Exactly.

Yeah.

It's like the risk of malignancy changes depending on the specific mechanism of disease genetically.

Okay.

All right I'm going to move on to something else really quick.

We're going to talk about going back to when a pediatrician does at this point say, you know what, I would like you to go see Doctor Aguirre because you want to do some kind of genetic testing.

So let's now take that family and they're coming to you.

And I'd love to kind of go through what that family can expect once they walk through the doors and say, we are here because our pediatrician asked us to come here to do a genetic test.

So is that where it becomes a specific panel of tests, and how are those performed and how do they prepare for that visit?

The visit is like a regular visit where they get the vital signs, our, medical assistant assist with getting a family history before they meet me.

Then, depending on the case, we have certain indications were actually the of it started by Michelle versus me or I start first.

Essentially is if we have a game plan already, we have a specific reason they're coming and we know what we are going to do.

Then Michelle starts so that she can start talking about genetic testing and getting concerned and seeing if they're interested.

And then I just do more like just a physical exam and making sure there's nothing else we might be missing, versus when they come with a more broad type of indication where we're not so sure what type of test we're going to do, I start first so I can get a full medical history to a full physical exam, figure out in my head what are the options and what's the best way to test?

Usually when we're talking about testing, we can be doing very targeted testing, meaning we can either go as a single gene.

Just we know this is most likely you're diagnosis.

We're going to just test this gene.

We can be like, oh, you have this presentation where we have a very good knowledge of a number of genes that can present like this.

So we test like a panel, or we can be like, oh, this is a type of indication where more broad testing is needed.

And we do a whole genome sequencing.

Okay.

Other more rare indications would require more specialized tests like methylation studies, chromosomal studies.

So there's a number of genetic weird terminology there.

But at the end of the day then the testing itself can be from blood in some cases most of the time.

So we can do buccal swabs.

So I have, some information here is I know you were talking about just different genes.

So there are some common, chromosomal disorders.

Disorders.

And I have your caused by an extra or a missing or an altered chromosome.

And so that is something where you're looking just for one gene.

Is that correct that when we're looking at chromosome okay, that would be a chromosome microarray or chromosome analysis okay.

If we're looking at chromosomes.

Chromosomes are the structures where the DNA is storage in our cells.

They're distraught like cheap structures in our body.

If we're looking at that, we are basically kind of taking a picture of the chromosomes, okay.

And chromosomes are all inherited.

Correct.

So that's where the genetic portion comes in it or or not genetic doesn't necessarily mean inherited it okay.

Genetics means it's in your DNA that can be inherited from a parent or can be new.

And you we all have about 5 million differences.

So I love that you said that because I do have here that there are some, genetic tests that are performed and things do not actually come to fruition or are shown until years and years later, like some unexplained, differences.

What was that?

It was like things kind of not, I guess, mutate, for the lack of a better word.

That things kind of change as that may not be original in the person.

No.

Okay.

That would be a different area.

Okay.

That is more like cancer genetics, which is a separate.

Okay.

Usually know the DNA you're born with is the DNA you move on with the rest of your life.

It's just in conception.

When the, egg and sperm come together, 5 million differences happen for every one of us.

Okay?

That's what makes us unique and interesting.

If not, we would be copies from our parents.

Gotcha.

So I have here, And again, this is just stuff that I was researching today, so please correct me.

How did genetic conditions developed?

A genetic disorder is caused by changes in a person's DNA.

And that's the part that I was trying to to talk about just here.

Changes in a person's DNA, which confused me a little bit and can arise in several ways.

It says in here, inherited mutations, a child inherits a genetic change from one or both parents.

So maybe talk a little bit about that to make it clear for me, essentially, if a parent has an autosomal dominant condition, they can pass it down to a child and you just need one parent for a child to have a 50-50% child chance on each pregnancy.

Okay.

Now, an autosomal recessive condition does when you have both parents are carriers, so they don't necessarily know that they have it because they're just carriers.

They don't have symptoms, but in a child both of their genes can be passed down, affected.

And then sent with disease.

That one is at 25% chance of each pregnancy.

Okay.

So that's why you can have one parent sharing the same genetic change, or both parents during one of the genetic changes.

And then where.

And I'm just trying to think back to my biology days.

Where does dominant and recessive come in.

Right.

So if you have two of the genes that are dominant, then chances are percentage wise that child will inherit C or D one recessive, one dominant.

I feel like, you know, then it's Russian roulette, or what have you.

So when are you looking at parents and their issues on whether or not they'll pass that on?

And we can even take that back to, again, going to biology.

You know, the blue blue eyes versus brown eyes is a green eyes or pollination with plants and yeah, you know, and maybe we can kind of bring it down to that point.

And then knowing how might these things be passed on.

And Michelle, you're nodding again and it's your turn to talk.

Anyway, I was thinking, this is a good one for your good.

Excellent.

Maybe we can start with what genes and DNA is.

Okay.

Perfect.

So, as Doctor Aguirre was explaining, genes are like instructions in G. We have 20 to 25,000 genes in our instructions.

Or our genes are made up a string of letters called DNA.

And when the string of letters is spelled correctly, that's what allows our bodies to function correctly.

Now, when we're thinking of inheritance from our parents, we get half of our genes from mom, half of our genes from dad.

And when you're thinking about chromosomes, like what you were talking about earlier, half of our chromosomes or our package of all of our DNA and genes is from mom.

Half of our chromosomes is from dad.

So when.

Yeah, just going back to the karyotype or the picture of chromosomes and DNA and genes.

Yes.

We inherited our genes and DNA from our parents.

But when that happens, changes happen.

And that's what allows us to be unique.

So I kind of lost track of your original question, but I thought like it was just talking about, again, when we're looking at dominance and recessive of what might be passed on, and for example, and I'm just going to go back, Brown eyes are more dominant than blue eyes, so the chances are less that somebody would have blue eyes.

If both parents have the exact same amount of blue and brown in them, chances are the brown eyes are going to come about.

And so I'm trying to bring that now to a medical question.

And, and we can talk about I know it's chromosomes again because it's, it's, it's, down syndrome.

But let's talk about Down's syndrome.

If there is a person in the family is that I know it's different, but is that something that is genetically passed on and we can talk about recessive and dominant, or is that not even a thing?

That's a lot of questions in one.

Okay.

But then let me ask specifically.

So down syndrome is about chromosomes is down syndrome.

If you have one, family that has down syndrome in that family, is that something that is inherited or can be inherited.

So Down's syndrome is an extra copy of a chromosome.

Okay.

Understood.

It happens the majority of the time by chance.

Not because, of something that mom or dad did or did not do.

Okay.

Not inherited.

It happens.

Okay.

So now take that to the original question of what types of what types of health issues are genetically passed down.

And there is a lot and when Mitchell was starting to say is the majority of Down's syndrome is random, but there is a small portion, if I'm correct, about 5% think a little less or a little less than that.

That it can be inherited, but not from a person with Down's syndrome.

Okay.

It's like they're a carrier.

For a chromosome rearrangement.

Okay.

We're getting into more complex, and maybe we can take chromosomes completely out.

You know, we can take that.

And let's focus on focusing on your question.

Most genetic conditions can be inherited except basically from the ones that fit the definition.

It's a statistical definition of little fitness basically, or fitness of zero because they are lethal before reproductive age.

Those are the ones that can also repeat that.

Again, sorry if a condition has a fitness of zero, or if a lesion has a thickness of zero, is that right of a fitness okay.

It's a it's a term that we use okay.

We're usually the fitness of one.

It means that it's always pats on fitness of zero.

It's never pass on okay.

And that's because there are very severe conditions that affect, babies.

And they cannot lead.

They cannot grow to reproductive age and pass it down.

And most of those, that are ultimate dominant, it means they're always happening new.

They're not being inherited because clearly parents are healthy.

Okay.

So it's some rare instances most of the time just genetic conditions can be inherited.

But that doesn't mean they're always inherited.

It's about 50-50% chance okay.

Across the board okay.

So going back to what health issues can be inherited genetically that are issues growing up.

What are some of the most common that you all deal with?

I would say the most common inherited.

And when the worst on your list is actually neurofibromatosis type one.

Okay.

That is the most common out.

So all dominant disorder.

And we do see when we see a patient we essentially are seeing the entire family with it.

Another common one is osteogenesis imperfecta type one.

It's bone fragility disorder.

Okay.

So I'm going to go back to the neurofibromatosis type one.

What is that condition?

It's a condition where the NF 1 gene, it's not functioning correctly.

And it's an important gene.

Gives instruction to an important protein.

That's part of the growth, process of our cells.

So growth is kind of loosing its checkpoint or the regulation.

So then you have uncontrolled growth leading to tumors, but they're always benign.

Okay.

And there are tumors to grow in the nerves Okay.

That's why the neural word.

Okay.

You can usually feel them under the skin, or you can have some that are in the brain.

Okay.

And how is that treated?

Do they go in and remove the tumors?

Is that a surgical then treatment if the tumor it's affecting because of size causing pain or causing vision loss.

Yes it will remove them.

Otherwise it's usually we just watch okay.

Because they're benign.

They're not cancer okay.

And you said this type of condition does definitely run in families.

So you'll see multiple siblings with this kind of condition in the world.

And I'm thinking ahead now, 20 years from now, knowing that this is a genetically inherited condition.

And it could be just looking in the looking glass, right, trying to figure out, is there a way that we can manipulate those genes in any way in the future?

Yes.

And that's where I'm trying to get to.

Why is genetic testing important for the treatment going forward for individuals that are diagnosed now and for the people that are in front of them in the future, their children and their grandchildren, etc.. There are a lot of gene therapy options now for different type of conditions.

And if one has a gene therapy on the works, like it's selective thing right now that it was a project I was actually part of during my training.

So that's coming.

Okay.

Yeah.

We have the ability now to replace what's missing.

And how do you do that?

Out of curiosity, how do you replace the gene?

That's messed up, so to speak.

Basically, you have to design a way in the lab to have that gene, to be small enough to place it into, we call it a vector, which is just whatever is going to transport the gene inside the cell because if you just, like, inject the gene inside of you, it does is not going to do anything.

You need it to exactly go to the right cell and then to go into the DNA and modify and provide with the protein that you have missing.

Okay.

And that way, going forward, you keep smiling like the 'did she understand that?'

So going forward with that specific situation, do we already currently have gene manipulation?

I guess the lack of a better word and tell me what conditions we have that currently working with right now in the medical world?

Spinal muscular atrophy, hearing loss, some vision loss.

Duchenne muscular dystrophy.

So people that have these conditions, we're able to now go in and try to mutate those genes a little bit.

We're trying to or to address it, trying to fix or trying to fix the current problem.

Correct.

Okay.

And that's where I'm going from.

I feel like I'm having a hard time getting out what I'm trying to get from you.

So these people have now these conditions and we are we are working with the genes that they currently have to help fix their conditions.

No, we have designed gene therapies.

Okay.

I guess what you're trying to say is and that we do use that technology for different type of conditions, but the ones that I'm mentioning is more like we already have a gene therapy that works for a specific type of genetic changes that are causing these conditions.

So that's why genetic testing is important, because if we find that you have a genetic change that is amenable to gene therapy, then we can give you a gene therapy.

Okay.

So let's take everything now to gene therapy.

Let's kind of shift gears and really talk about what do we do now.

So describe again case studies are great.

If you can think of 1 or 2 people that you've worked with that you are doing gene therapy with, and how that has resulted in positive health results.

Throw a case study or two out there of what the condition was, what the therapy was, and where are they now?

It threw me a hard one there.

Okay, I don't think I have any specific experience.

Okay.

There.

Okay.

I do know in theory that we use it.

Okay.

I haven't had a personal experience with it yet.

Okay.

One that you studied about, right.

About that you thought was fascinating, maybe a kind of finding to the audience fascinated the Duchenne muscular dystrophy.

Okay, so a case of Duchenne muscular dystrophy usually presents us, a 8 year old kid that's losing abilities.

We diagnose, we find a specific genetic change.

We find that that specific genetic change that's leading to his presentation to their symptoms is amenable to gene therapy, meaning it's fixable by the gene therapy that we have already designed.

Okay, so then we can provide the gene therapy.

They're usually infusions.

After the infusions, and we notice that the kid starts recovering their muscle use.

So they can start walking again.

Okay.

Breathing again.

Their heart gets better.

Okay.

And so with this comes physical therapy.

I'm assuming, and with this gene therapy, is it something that happens multiple times?

Is it something that, come like every couple of weeks they go in for therapy and like you said, it's an infusion.

And how does one, the hospital staff, doctor, staff, how do they monitor the infusions and then how things are starting to develop for this person?

Because the vectors that we currently use for most are viral.

You can only give it once, because the patient is gonna create antibodies against that virus because it recognizes and rightfully so, foreign and probably damaging.

So we can only give it once.

And that's the situation that we're trying to understand better.

And how to improve in the research area, because sometimes, some of the studies have reported that there's improvement.

And then with time the body gets rid of everything that's foreign and it's back to their native DNA again.

Okay.

So then the symptoms start again okay.

So that's something where because gene therapy is really in diapers right now.

Right.

It's great that we have what we have.

But there's a lot of research going on how to improve it, how to make it a long lasting effect or make it something that we can continue to keep as boosters, kind of, so that defect, it's for the entire life.

Okay.

And so this is specifically with muscular dystrophy you were talking about, would you, Duchenne Muscular dystrophy.

Are there any similar conditions that that kind of apply here?

As well with gene therapy?

The hearing loss gene therapy is similar.

There's a case and they show improvement.

But basically we know we cannot give the same therapy again.

And there's no guarantee that the hearing loss won't come back okay.

And usually if you're going to have a window of time where and let's first start with muscular dystrophy.

If there's a window of time where things are going, well, you can see that there is a reversal of of issues.

Is it a couple of years before the body kind of goes back to not the reset, but the reset of the original condition, or is that interchangeable with every patient?

I imagine it is to some degree, it is to some degree.

And I think it's longer than that.

Is is more like almost all of this is theoretical.

Okay.

We haven't I don't believe we have documentation or evidence of seeing that yet.

We're just kind of hopefully waiting that it doesn't happen before we have a solution.

Okay.

So let's take this now to the hearing.

So that's muscular dystrophy for hearings.

You said that, we do gene therapy.

It could last for how long before maybe you could do it again.

And I guess that's a question to when and where does a decision get made of whether or not we want to try the gene therapy again?

Is there a danger in doing that?

And then that's that's I guess, where the cancer comes in too.

Right.

That's where the discussion with the family comes in.

And weighing out your return on investment, so to speak.

Right, Michelle?

Or how how would you have those discussions with the families?

I could see those conversations happening either before testing or after testing.

A lot of patients when they hear about genetics are like, okay, what can we do to fix your genes?

And the unfortunate truth like doctor Aguirre was saying like you can't Yeah.

But even if there's not gene therapies there's clinical trials.

Is treatment and management available.

So like you're saying going into these conversations is setting expectations teasing out like what are they hoping to get out of genetics and genetic testing.

And then once we're able to identify their like hopes expectations, we talk about what's available.

And gene therapy isn't available for the majority of.

So when they're looking at you because everyone who's got a diagnosis of a condition, they're looking at somebody for an answer, right?

Yeah.

So what what is it that you're able to or what do you tell.

Let's take this to real time right now.

There.

Look at I I'm a mom.

I've got a child that has throw a condition out at me that has.

That has vision loss.

And this child is part of a sibling group.

There's a gentleman in town, who is a DJ.

Actually, his name is Mike D, and I. Permission to talk about him.

He and his siblings were born without any issues of sight.

And then as they were getting older, into their teens and into their 20s, we're losing their sight.

So this is something that at least two of not three of the siblings had issues with.

And so, again, that's genetic.

I'm thinking I'm going to do this program tonight on pediatric and genetics and have this conversation for families like his and I don't know, his age, and I want to throw it out if I do.

But he's he's definitely probably 35- 40 ish.

Right.

If he has children, does have children.

Is this something that could be pass on to his children?

And does it matter that we know it's a genetic condition?

Does it matter in what can be given as a treatment going forward?

Who wants to take that?

If you're telling me the family tree has siblings that are affected with healthy parents, I'm thinking, of some recessive condition, meaning they affected kids.

Now, parents are not going to be able to pass that on because they just pass one copy.

The other copy is going to come from the partner, unless the partner is also a carrier or affected with the same condition, then there's a risk for the child.

But if partner is otherwise genetically no problems in that same gene, no chance on the issue at all is there?

It might be carriers to kids, but not affected knowing that they have a genetic conditions.

Like if we would have met this kids now adults as kids when everything was starting to happen and we get a diagnosis and we know, oh, they have this vision loss because of the specific genetic condition affected by this gene.

Yes, we do have specific gene therapy for a type of patient.

Okay.

So on that note, with all three siblings, and I know it's different because you don't have this testing or what have you.

But if you're looking at, Gene therapy, what what would that look like?

Gene therapy for vision loss right now, looks like injections into the eye, providing the vector with the modified gene.

Okay.

And physiologically, going back to the science of it.

All right, you were talking about a lot of the gene therapies are viruses.

Is this also a virus acting type of a thing.

And now going to pharmacy.

Who develops that.

Like I'm trying to think of the guy in the laboratory.

Guy gal in the laboratory.

That's that's developing all of this.

Right.

And then there's obviously the, the the studies that go on there, if there are clinical trials, etc., etc.. So I'd like to kind of bring all this thought process because again, we're looking at how do we help people who are once diagnosed.

We know it's genetic.

Now if we can do gene therapy, how can we help?

So maybe let's go from that process.

So we're developing in the the lab.

Some kind of gene therapy.

How does that process work.

I know it's not really.

You're like what you're doing right now.

But just in general in your studies, how does that process work of developing gene therapies for different issues.

It started historically with the study of viruses when we first discovered viruses in the lab.

And this exploded with HIV era.

And we we figure out, oh, the virus can go into the cell and modify your DNA.

So we're like, oh, let's use it as a tool.

They start with modifying the virus so that it doesn't cause disease like a viral infection.

Right.

But can we put something back in?

So then they start with modifying the virus, creating a vector which is like a backbone or a transport that we're designing.

It's like, okay, we're designing this car that is going to go fast enough to the right place, like it's going to have GPS included, it's going to know where to go.

And then we're putting passengers in there are going to carry the adequate or the correct instructions.

That makes sense to me.

I like the way you explain that.

Okay.

So now they're continuing on.

So and I can only see where do you see this five years from now?

Everything that you're explaining right now, you see all the magic happening in the lab.

And that even becomes more magical when it gets to clinical trials and things are working.

So in this world of research and, and where we are 5 or 10 years from now, what what is your what are your hopes and dreams in this area?

You're very young.

So when you're a seven year old doctor who is still practicing, where do you think this this study is going to be?

I think I hope that we're actually going to move away all viruses, because now we know.

Good point.

The downside of using virus as the transport.

And we're going to design artificially basically cars or what's called a small molecules.

It's the fancy name nanoparticles that basically are.

Designing the laboratory but that are biologically.

Like they're accepted by our body.

They're not going to be foreign So then our body doesn't attack it okay.

Because there's a problem with viruses, but it thinks it's a bad thing and starts attacking.

And if your immune system goes on and then you have symptoms, flu like symptoms.

Right.

But if we design a molecule.

So if we design the car from scratch so that the body doesn't recognize it as foreign, right.

That makes sense.

I think that's my hope where research is going to start in the future, and that we also design a way that the car is able to accept any passenger.

Because right now it's very limited which genes can be fit in the vectors or in the gene therapies.

So that's why we don't have a gene therapy for every condition.

So my hope is not only will design a better car, it's going to accept or all comers, and it's going to have the perfect GPS to go whatever we need it to go without having to like inject an eye.

That it can be trained, it can be through a pill and but it knows where to go.

And I love that because we have been focusing, specifically on this program over the last five ish years or so on highly personalized treatments.

A lot of it's in oncology, just, just because it just naturally goes to that area.

But I see, gosh, I see the world of genetic testing just being phenomenal in the next 20, 30 or 40 years.

Even cloning, maybe back in the day when it's like, okay, cloning, what exactly does that mean?

I'm not asking that question, but it scared a lot of people.

But at the same time, in the world of medicine, it was phenomenal because now you're able to help those that have issues.

I would like to talk a little bit about it.

And again, it just some of the stuff that I was researching today, the risks of genetic testing.

And I think, Michelle, this is probably more a question for you because there is a, a mentality of like, oh my gosh, I have been genetically tested and I have this now what?

And again, that goes to, not that it's a danger, but there's a risk of now the, the mindset of individuals.

Well, my mind is racing because the risk can be defined in so many different ways, like there can be the risk.

This is why we spend like 30, 60 minutes doing informed consent for genetic testing, because there's risk in what you can find.

There's risk in what you can't find.

So what answers you can and can't expect.

There's risk in how this genetic information is stored and used by these.

Yeah, that's a big one.

Laboratories that do this testing there's risks.

And like the information they find out the prognosis.

There's there's risks in how this can affect your family members.

And yeah that's why I kind of was smiling because this risk can be interpreted in so many different ways.

So without using any name health insurance risk.

Oh my gosh thank you.

That's a great point.

Wow.

Yeah.

There's laws in place to protect against implications of specific types of insurances.

But on the other hand there's different types of insurances that aren't protected by implications of genetic testing.

Right.

So without giving me any names, can you think of some questions that family members ask of you when you're saying you spent an hour with them talking about the implications?

What are some of the questions that they ask you?

That's a good question.

Ask me.

Well, my kids have this.

That's the biggest one.

Ask me, does this mean I can't have life insurance and they ask me, is this okay for my kids to know about when they're so young?

And that opens up a whole can of worms because we're pediatrics.

Right.

And so and you say this throw out some conditions here and there so we can be a little bit more specific.

So is this okay or is this something I can let my children know.

What are some of the this is okay.

Yeah I see.

So if we're if someone is being seen by genetics to answer very specific question about birth marks, that question can come with so many other answers that they weren't expecting.

Like this may affect like a question about birth marks can come with a diagnosis that affects fertility, that has like heart issues later on or has lung issues later on.

So when we're thinking about fertility or these presentations that may be anticipated later.

How do we have those conversations with kids now or later on about their fertility?

Okay.

And now kind of on that same thought process they are counseling with you.

You're counseling with them on whether or not they're going to go through the genetic testing.

So those that have decided not to what are their reasons.

And again, just a couple of that you've heard here and there.

Okay.

On one end, they already have a clear family history of something in their family of the condition in their family.

And having, an answer now, when someone is so young, when a child is so young, may not do any good because the condition may not present when the kids and then I don't know what word to use, but for the lack of a better word, how do you sell the idea and against a terrible word.

But how do you, convince sell?

The idea of this would be good to have tested, because why?

Depends on the condition.

So throw out a condition.

You're welcome to throw all the conditions to be sure.

Something like Huntington's.

Okay.

Perfect.

Test a child because having that kind of sure answer of you will develop these symptoms later on is an anxiety inducing.

And it's there's nothing they can do about it.

But if there is a condition that has early childhood management and screening, bingo, that's when it would be especially useful so that we can be proactive so that when kids grow up, they can make informed decisions about having kids and eventually having their kids tested.

So yeah, it depends on the condition and how and when management and treatment is implemented.

And I'm just thinking with what Doctor Aguirre said that wouldn't that be nice?

And let's use Huntington's just so we can throw some specifics out there that there is a predisposition of getting Huntington's, but maybe they can follow them for the next decade or two.

What's happening with gene therapies, if that's even the thing?

Hopefully it could be with gene therapies that, specifically address Huntington's or whatever the issue would be.

I'm trying to, to get across the audience.

Why?

I mean, this whole program is on genetics and pediatrics and why.

And so I want to get across why is it important to have genetic testing and why is it not, you know, that's that's something that people can look at either way.

And I'd like for you to talk about whatever you'd like to that we haven't yet addressed this evening that you thought you'd like to to get across.

I guess to finish on that.

In general, we do have a rule that we do not test kits for genetic conditions that are running in the family.

If they are not symptomatic.

Okay, I like that.

That makes sense to me because, genetic testing as we've been talking, it's an informed decision.

When we test kits, we're taking the decision from them.

So we need to do it for a very good reason.

Meaning they already are presenting symptoms.

We know they probably have a this condition.

We're just trying to pinpoint which one so we can manage better.

The only exceptions to that rule are specific genetic conditions that can run through families that even though when a kid is not presenting, they are expected to present symptoms in their childhood years.

So maybe they come to us when they're four and we're like, well, they can start presenting at age six and we can monitor early and treat early.

We know they have the gene or not or the specific genetic change.

So that's an exception to the rule.

But in general, we do not test if there is no reason for it, okay.

It's always an informed decision and it's always an option.

Okay.

Genetic is never mandatory.

And just because you have the gene doesn't mean that necessarily something's going to present depends on this condition.

Okay.

That's another concept that's called penetrance.

Great!

Yeah.

Well I want to say thank you so much for being here.

I know that there are still a lot of questions.

And feel free.

There's going to be an email address on your screen where you can ask your questions.

Because sometimes we only have an hour and we can't get everything out, in that hour that we can and you can contact the El Paso County Medical Society and ask your question, and we'll get back to Doctor Aguirre and someone who can answer some of the questions that we may not have been able to address this evening.

And also, if you want to watch the show once again, there's a couple of ways that you can do that.

This show, along with other programs that we have on different topics.

And the first one is PBS El paso.org.

The other one is the El Paso County Medical Society.

And that's epcms.com and then also YouTube.

You can always go to YouTube, and then type in for the search engine, type in the El Paso position.

I just tried it a couple of times.

It just said El Paso Physician.

And it does.

It pops up.

And what you will see immediately is the current show that you're airing.

But you can also go in the search engine and find the programs that you, see coming in in the future.

So again, I want to say thank you so much to Doctor Aguirre and to Michelle.

And again, the whole idea of genetics is so fascinating, and I'd love to have you all back in about five years, if not earlier, but I feel like five years from now there would be a lot of we haven't seen that in practice yet.

There's a lot that we see and have talked about this evening in theory, but wouldn't it be great, to see this program again in five years?

Like, you know what?

That was a case study that I dealt with, and I saw that happening in Boston and back in New York.

This is what we did.

And back in Germany, this is what they did.

And to me, that's just a way of educating our audience of of what is going on.

And there's, not with pediatrics, but I know there's a lot of genetic testing in the world of oncology.

And, one day would be nice to see how we can marry those two and how things happen.

Does that make sense?

Yeah.

Yeah.

Thank you so much for being here.

Again, this is the El Paso physicians.

Feel free to email your question to there's the email address on your screen.

That's the El Paso County Medical Society.

And it doesn't necessarily need to be on this topic.

It can be on any of the topics that we have discussed.

And we will make sure that we get a physician that gets back to you.

I'm Kathrin Berg, and this has been the El Paso Physician.

Good night.

The El Paso County Medical Society is a nonprofit organization established in 1898, that unites physicians to elevate the health of the El Paso community.

We have been bringing the El Paso Physician Television program to your home for the last 27 years on PBS El Paso.

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