[Instructor] Hello and welcome
to the first lecture in module one.
In this lecture, we are going
to really just give an introduction
to genetics in the clinical setting
and really start to set the stage
for why we're here in this course
and what it is we're hoping to learn
and to review what the ANA has written up
as their core competencies
that they believe nurses should have in genetics.
Why is genetics important in nursing practice?
Well, genetics is really one of the primary reasons
for why we see such individuality in health and disease.
And what I mean by that is, I'm sure you can think
of many examples you've seen in your practice
that you have maybe two people
who are very similar in many ways,
maybe have similar conditions,
and they're both prescribed the same therapy
and one responds very, very well perhaps,
and another does not respond as well.
And you know, the questions coming about, well, why?
Why would this one person respond well, and this other not?
Or you may see two individuals with the same condition
and one progresses really rapidly
and the other was able to maintain health
for a longer period of time.
These are questions that are generally related
to differences in those individual's genetics.
And it is quite complicated
or certainly can be quite complicated
to explain each individual
why one person would respond one way
and another quite differently.
But at least we can start to understand
where these differences may be coming from.
And from that, hopefully into the future, we can start
to translate that into better therapeutic options
and more individualized therapy prior
to seeing someone fail a certain therapeutic approach
or being able to identify those who are at greater risk
for rapid degeneration in a particular disease
or disorder, they also provide critical clues
in the diagnosis and optimal treatment
of a range of diseases.
And I mean, you can name pretty much every single disease,
every single human disease,
and you can find some way in which genetics
is playing a role, certainly some
to greater extents than others.
Cancer, for example, is the most common genetic disease,
and that's one that we will be discussing in a later module
in a lot of detail, but certainly,
you probably have in your practice,
but probably know folks who have suffered from some
of these different conditions, which are quite common,
including cancer, cardiovascular disease, mental illness,
developmental disorders, diabetes, asthma, Alzheimer's,
autism, and many, many more.
You name it probably has some kind
of identified genetic component to it.
Now, whether that component is increased susceptibility
could affect how well a person would respond
to certain therapies, the likelihood
that they would develop a disease sooner or later in life.
All of these can be affected by their genetics
and the differences in their genetics versus someone else's.
And certainly it can affect over the entire lifespan.
So not just a range of diseases,
but also every stage of life from prenatal, neonatal,
pediatric, adult, geriatric, in every setting.
So why do you need to know this now?
Genetic testing is becoming a common tool
in clinical diagnoses and screening and treatment planning.
And you've probably experienced this yourself
in your own practice
where if someone may have had a genetic test done
or recommended a genetic test be done,
and then, you know, it's in their patient record
and you're may or may not quite know what to do
with that information,
what does it mean for them?
The patient may be confused by it,
their clinical team may be confused by it as well.
So while it's becoming more and more common,
knowing what to do with that information
has not quite kept up with the progress
that's been made on the technical side
of conducting these kinds of genetic tests.
However, in the next five to 10 years,
and I'm leaning more on the five side of that
versus the 10 side of that.
Whole genome sequencing will become affordable
and readily available
and will increasingly influence clinical care
and personalized approaches to health.
And what do I mean by whole genome sequencing?
Well, we're going to talk about this a lot in this course,
so I'm not going to go into a lot of detail here.
But essentially the differences between a genetic test
and whole genome sequencing is that a genetic test
is looking at one specific gene.
So you have a hypothesis, well,
we think this patient
may have a particular genetic condition or disorder.
So they go in and they will look specifically
just within that gene, that one gene of the 25
to 30,000 genes that we have.
And they'll explore that region
and identify if there's anything that appears
to be abnormal there in that sequence.
Genomic sequencing
or whole genome sequencing on the other hand,
is casting a wide net.
It's essentially sequencing
or identifying the sequence for your entire genome,
all of your 25,000 genes instead of just one at a time.
And it usually is not hypothesis driven.
And by that I mean it's not
as though we suspect one particular disease
or condition for this person.
It's more, I mean, it can actually just be
to identify anything that may happen for this person
that isn't even showing up at this point.
Gets a little bit tricky because again,
while the technology has progressed really rapidly
and we have the ability to do whole genome sequencing
and it's becoming cheaper and cheaper each year and more
and more available each year, we are not keeping up
with the interpretation of it
because the interpretation is so complex
and we can't, we have no way of knowing what most
of it means even when we do whole genome sequencing.
This can lead to a number of issues,
the main one being confused patients.
So patient might have a whole genome sequence completed
for themselves and then they're just confused,
what do I do with this information?
Their clinical care team doesn't know what to do
with that information.
And it becomes a challenge to really know
where to go from there.
However, that being said, progress is absolutely occurring
and it will only continue to occur if more
and more people have their genome sequenced
and we can grow our databases
and make better correlative associations
between certain genetic sequences
and susceptibility to disease
or overall health for an individual.
And in that way, over the next five to 10 years,
we certainly will rapidly grow our understanding of that.
And we're right at the precipice now.
So that's why I'm certainly hopeful in taking this course.
This will be a springboard for you
into this new world of genomic medicine
that's really coming up
and will become a critical part of clinical care,
certainly in the next decade and well beyond.
Public exposure to advances in genetic technologies
and research is growing rapidly leading
to patients being misinformed or confused.
And you've probably experienced this yourself
where you have patients or family members coming in
and saying, "You know, I heard on the news
that they've identified the obesity gene
or the diabetes gene, and I wanna know if I have that gene."
Well, it's not quite that simple,
even though despite the fact
that you will hear in news reports, there is an obesity gene
or a diabetes gene,
which you will learn about in this course is that,
as you might imagine, it is not that simple
and it does not necessarily correlate to knowing what to do
with that information at this point.
Even if we did as researchers identify
that there's a particular gene that's associated with one
of these conditions, it doesn't mean that there's anything
that can be done right away to a affect patient care.
Genetics also plays a role in presentation manifestation
or treatment response in nearly every disease.
So having a basic understanding is critical in any practice.
And this is gonna be,
I think I would predict this is gonna be one
of those courses where it's sort of like when,
I don't know if you've ever experienced this,
but if you decide to buy, let's say you decide
to buy a new car
and you decide to buy, you know, say, I dunno,
a Mazda something or other.
(instructor chuckling)
And you pick out your car,
this is the car you're gonna get.
And now all of a sudden everywhere you look,
everybody has this Mazda, whatever,
and it's like, wait, I've never even noticed it before,
but now that I'm aware of it,
it's everywhere, right?
So that's, I'm thinking
that's probably what's gonna happen here is that
once you start to dive into genetics and genomics
and have a better understanding of it,
your awareness will increase.
And I think you're gonna start
to see it a lot in your practices,
even more than maybe you recognize it today.
So I'm very hopeful that this course will serve
to increase your awareness
and that that will be beneficial to you and your practice.
What does the ANA expect you
to know about genetics as a registered nurse?
So they've broken this down into a number
of different categories.
First being professional responsibilities,
and they describe this as staying up
to date on genetic science, advocate for
and communicate to patients.
Nursing assessment,
understand relationship between genetics and disease.
Create a three generation pedigree.
We're gonna do that a lot.
So believe me, that will be an integral part of this course.
Incorporate genetics into health plans.
Identification, identify those who may benefit
from genetic information or services and any related issues.
Now, you're not expected to be an expert in genetics.
I don't believe
that that's what the ANA is advocating for here.
The way I interpret this is
that if you can identify that there's a patient who,
as they have written here,
may benefit from genetic information or services,
that you recognize this first of all,
and that second, you're able to direct them
to the proper specialists who can help them with that.
And that leads us to the referral activities,
facilitate referrals to genetic specialists.
And education care and support,
provide education care and support to patients considering,
or those who have received genetic information or services.
As we talked about, that when you get this information
as a patient, it can be very confusing
and you don't quite know what to do with it.
And perhaps a clinician ordered a test,
didn't quite know what to do with it themselves,
the results came back and now the patient's very confused.
So having someone there who can explain to them in a way
that they can understand what the results mean
and what they should do as a next step is going
to be really critical for them.
The ANA's categories of essential competencies
for APRNs would include,
there are actually 38 different competencies
and they're organized under some major categories
that I have listed here.
And I have the full list of the essential competencies
that the ANA published in September of 2011,
and that's posted in the course material folder
for this module.
And I'm asking that you review that
and think about those competencies
and how they might apply to your practice
and what you're hoping to get out of this course.
So those major categories are risk assessment
and interpretation, genetic education, counseling, testing
and results interpretation, clinical management,
the ethical, legal and social implications,
which is called ELSI for short,
professional role, leadership and research.
So we're going to cover a lot of this this semester
and certainly get you off to a very good start with all
of it, if not completely cover most
of what they're suggesting are those essential competencies.
And these are some of the topics that we're going
to cover this semester.
Fundamentals of genetics is where we're going
to start in those first couple of modules.
And this is just going, starting at the molecular level,
understanding the basics of genetics
and how it fits in, how that might actually fit
into the clinical side of things.
And then take that out the next step
to chromosomal disorders,
these would be aneuploidies chromosomal disorders,
large scale disorders in someone's genome
that would result in some clinical disorders
that are commonly considered syndromes,
something like down syndrome.
Then we'll move into family history and inheritance,
and we'll spend several modules on that.
This is where we're going to put together some pedigrees,
those three generation pedigrees,
really learn how to do that
and how to do it efficiently,
how to get the right information to put in there,
what it is you're looking for.
Once you get that information in there, you know,
you draw your nice pedigree
and ask the right questions, gather the right information,
then how do you interpret that?
What does it actually mean?
We'll talk about that.
And then we'll go from genes to disease.
And here's where we're gonna be talking about
other than just those large scale chromosomal disorders,
actually looking at mutations,
which are changes in our gene sequence
that can result in disease and how that actually happens.
Then we're gonna move into,
in the second half of the course,
some really specific clinical applications here.
Oncology, immunogenetics, psychiatric disorders
and public health will all be covered
in modules eight through 11.
And so for each of these, we're going
to dive in a little bit deeper into those subject areas.
And then ethical, legal and social implications
is in module 12.
This is an important set of topics
and we'll really cover this throughout the whole semester,
but we have a whole week dedicated just to this.
And then we'll wrap it up
with the genetic testing over the lifespan of an individual.
So everything from really
before even conception up through death
and where genetic testing can fit in there
and what it means at each stage of life,
because it means very different things
depending upon the stage of life.
Finally, health and wellness, this will be our last module
and it's important, I think it's important not
to just look at pathologies,
but also to look at overall wellness, nutrition, health,
exercise, those types of subjects
and how they can be related into genetics just as much
as many of these well-studied pathologies can.
So with that, this is really gonna be our semester
and I'm really, really looking forward
to engaging with each of you in this
and hope that you're excited by these topics
and you know that we're going
to go along for a ride together.
And I think at the end of it,
I'm certainly hopeful that you will feel
as though this has been a good use of your time
and your energy to invest in this course.
So with that, I will say goodbye
and I will speak with you again in the next lecture.