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[Instructor] Hello and welcome

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to the first lecture in module one.

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In this lecture, we are going

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to really just give an introduction

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to genetics in the clinical setting

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and really start to set the stage

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for why we're here in this course

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and what it is we're hoping to learn

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and to review what the ANA has written up

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as their core competencies

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that they believe nurses
should have in genetics.

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Why is genetics important
in nursing practice?

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Well, genetics is really
one of the primary reasons

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for why we see such individuality
in health and disease.

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And what I mean by that
is, I'm sure you can think

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of many examples you've
seen in your practice

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that you have maybe two people

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who are very similar in many ways,

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maybe have similar conditions,

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and they're both
prescribed the same therapy

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and one responds very, very well perhaps,

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and another does not respond as well.

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And you know, the questions
coming about, well, why?

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Why would this one person
respond well, and this other not?

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Or you may see two individuals
with the same condition

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and one progresses really rapidly

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and the other was able to maintain health

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for a longer period of time.

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These are questions that
are generally related

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to differences in those
individual's genetics.

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And it is quite complicated

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or certainly can be quite complicated

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to explain each individual

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why one person would respond one way

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and another quite differently.

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But at least we can start to understand

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where these differences
may be coming from.

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And from that, hopefully
into the future, we can start

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to translate that into
better therapeutic options

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and more individualized therapy prior

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to seeing someone fail a
certain therapeutic approach

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or being able to identify
those who are at greater risk

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for rapid degeneration
in a particular disease

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or disorder, they also
provide critical clues

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in the diagnosis and optimal treatment

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of a range of diseases.

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And I mean, you can name pretty
much every single disease,

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every single human disease,

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and you can find some
way in which genetics

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is playing a role, certainly some

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to greater extents than others.

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Cancer, for example, is the
most common genetic disease,

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and that's one that we will be
discussing in a later module

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in a lot of detail, but certainly,

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you probably have in your practice,

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but probably know folks
who have suffered from some

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of these different conditions,
which are quite common,

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including cancer, cardiovascular
disease, mental illness,

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developmental disorders,
diabetes, asthma, Alzheimer's,

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autism, and many, many more.

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You name it probably has some kind

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of identified genetic component to it.

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Now, whether that component
is increased susceptibility

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could affect how well
a person would respond

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to certain therapies, the likelihood

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that they would develop a
disease sooner or later in life.

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All of these can be
affected by their genetics

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and the differences in their
genetics versus someone else's.

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And certainly it can affect
over the entire lifespan.

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So not just a range of diseases,

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but also every stage of life
from prenatal, neonatal,

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pediatric, adult,
geriatric, in every setting.

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So why do you need to know this now?

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Genetic testing is becoming a common tool

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in clinical diagnoses and
screening and treatment planning.

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And you've probably
experienced this yourself

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in your own practice

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where if someone may have
had a genetic test done

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or recommended a genetic test be done,

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and then, you know, it's
in their patient record

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and you're may or may
not quite know what to do

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with that information,

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what does it mean for them?

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The patient may be confused by it,

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their clinical team may
be confused by it as well.

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So while it's becoming
more and more common,

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knowing what to do with that information

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has not quite kept up with the progress

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that's been made on the technical side

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of conducting these
kinds of genetic tests.

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However, in the next five to 10 years,

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and I'm leaning more on
the five side of that

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versus the 10 side of that.

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Whole genome sequencing
will become affordable

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and readily available

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and will increasingly
influence clinical care

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and personalized approaches to health.

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And what do I mean by
whole genome sequencing?

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Well, we're going to talk about
this a lot in this course,

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so I'm not going to go
into a lot of detail here.

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But essentially the differences
between a genetic test

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and whole genome sequencing
is that a genetic test

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is looking at one specific gene.

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So you have a hypothesis, well,

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we think this patient

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may have a particular genetic
condition or disorder.

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So they go in and they
will look specifically

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just within that gene,
that one gene of the 25

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to 30,000 genes that we have.

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And they'll explore that region

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and identify if there's
anything that appears

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to be abnormal there in that sequence.

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Genomic sequencing

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or whole genome sequencing
on the other hand,

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is casting a wide net.

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It's essentially sequencing

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or identifying the sequence
for your entire genome,

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all of your 25,000 genes
instead of just one at a time.

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And it usually is not hypothesis driven.

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And by that I mean it's not

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as though we suspect
one particular disease

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or condition for this person.

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It's more, I mean, it can actually just be

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to identify anything that
may happen for this person

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that isn't even showing up at this point.

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Gets a little bit tricky because again,

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while the technology has
progressed really rapidly

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and we have the ability to
do whole genome sequencing

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and it's becoming cheaper and
cheaper each year and more

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and more available each
year, we are not keeping up

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with the interpretation of it

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because the interpretation is so complex

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and we can't, we have no
way of knowing what most

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of it means even when we
do whole genome sequencing.

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This can lead to a number of issues,

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the main one being confused patients.

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So patient might have a whole
genome sequence completed

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for themselves and then
they're just confused,

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what do I do with this information?

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Their clinical care team
doesn't know what to do

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with that information.

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And it becomes a challenge to really know

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where to go from there.

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However, that being said,
progress is absolutely occurring

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and it will only continue to occur if more

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and more people have
their genome sequenced

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and we can grow our databases

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and make better correlative associations

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between certain genetic sequences

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and susceptibility to disease

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or overall health for an individual.

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And in that way, over the
next five to 10 years,

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we certainly will rapidly grow
our understanding of that.

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And we're right at the precipice now.

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So that's why I'm certainly
hopeful in taking this course.

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This will be a springboard for you

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into this new world of genomic medicine

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that's really coming up

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and will become a critical
part of clinical care,

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certainly in the next
decade and well beyond.

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Public exposure to advances
in genetic technologies

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and research is growing rapidly leading

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to patients being misinformed or confused.

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And you've probably
experienced this yourself

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where you have patients or
family members coming in

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and saying, "You know, I heard on the news

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that they've identified the obesity gene

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or the diabetes gene, and I
wanna know if I have that gene."

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Well, it's not quite that simple,

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even though despite the fact

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that you will hear in news
reports, there is an obesity gene

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or a diabetes gene,

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which you will learn about
in this course is that,

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as you might imagine,
it is not that simple

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and it does not necessarily
correlate to knowing what to do

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with that information at this point.

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Even if we did as researchers identify

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that there's a particular gene
that's associated with one

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of these conditions, it doesn't
mean that there's anything

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that can be done right away
to a affect patient care.

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Genetics also plays a role
in presentation manifestation

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or treatment response
in nearly every disease.

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So having a basic understanding
is critical in any practice.

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And this is gonna be,

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I think I would predict
this is gonna be one

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of those courses where
it's sort of like when,

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I don't know if you've
ever experienced this,

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but if you decide to
buy, let's say you decide

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to buy a new car

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and you decide to buy,
you know, say, I dunno,

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a Mazda something or other.

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(instructor chuckling)

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And you pick out your car,

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this is the car you're gonna get.

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And now all of a sudden
everywhere you look,

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everybody has this Mazda, whatever,

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and it's like, wait, I've
never even noticed it before,

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but now that I'm aware of it,

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it's everywhere, right?

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So that's, I'm thinking

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that's probably what's
gonna happen here is that

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once you start to dive
into genetics and genomics

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and have a better understanding of it,

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your awareness will increase.

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And I think you're gonna start

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to see it a lot in your practices,

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even more than maybe
you recognize it today.

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So I'm very hopeful that
this course will serve

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to increase your awareness

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and that that will be beneficial
to you and your practice.

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What does the ANA expect you

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to know about genetics
as a registered nurse?

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So they've broken this down into a number

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of different categories.

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First being professional responsibilities,

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and they describe this as staying up

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to date on genetic science, advocate for

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and communicate to patients.

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Nursing assessment,

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understand relationship
between genetics and disease.

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Create a three generation pedigree.

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We're gonna do that a lot.

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So believe me, that will be an
integral part of this course.

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Incorporate genetics into health plans.

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Identification, identify
those who may benefit

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from genetic information or
services and any related issues.

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Now, you're not expected to
be an expert in genetics.

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I don't believe

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that that's what the ANA
is advocating for here.

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The way I interpret this is

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that if you can identify
that there's a patient who,

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as they have written here,

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may benefit from genetic
information or services,

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that you recognize this first of all,

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and that second, you're
able to direct them

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to the proper specialists
who can help them with that.

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And that leads us to
the referral activities,

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facilitate referrals
to genetic specialists.

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And education care and support,

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provide education care and
support to patients considering,

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or those who have received
genetic information or services.

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As we talked about, that
when you get this information

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as a patient, it can be very confusing

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and you don't quite
know what to do with it.

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And perhaps a clinician ordered a test,

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didn't quite know what
to do with it themselves,

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the results came back and now
the patient's very confused.

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So having someone there who
can explain to them in a way

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that they can understand
what the results mean

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and what they should do
as a next step is going

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to be really critical for them.

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The ANA's categories of
essential competencies

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for APRNs would include,

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there are actually 38
different competencies

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and they're organized
under some major categories

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that I have listed here.

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And I have the full list of
the essential competencies

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that the ANA published
in September of 2011,

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and that's posted in the
course material folder

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for this module.

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And I'm asking that you review that

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and think about those competencies

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and how they might apply to your practice

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and what you're hoping to
get out of this course.

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So those major categories
are risk assessment

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and interpretation, genetic
education, counseling, testing

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and results interpretation,
clinical management,

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the ethical, legal and
social implications,

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which is called ELSI for short,

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professional role,
leadership and research.

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So we're going to cover a
lot of this this semester

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and certainly get you off to
a very good start with all

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of it, if not completely cover most

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of what they're suggesting are
those essential competencies.

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And these are some of the
topics that we're going

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to cover this semester.

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Fundamentals of genetics
is where we're going

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to start in those first couple of modules.

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And this is just going,
starting at the molecular level,

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understanding the basics of genetics

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and how it fits in, how
that might actually fit

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into the clinical side of things.

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And then take that out the next step

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to chromosomal disorders,

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these would be aneuploidies
chromosomal disorders,

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large scale disorders in someone's genome

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that would result in
some clinical disorders

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that are commonly considered syndromes,

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something like down syndrome.

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Then we'll move into family
history and inheritance,

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and we'll spend several modules on that.

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This is where we're going to
put together some pedigrees,

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those three generation pedigrees,

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really learn how to do that

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and how to do it efficiently,

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how to get the right
information to put in there,

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what it is you're looking for.

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Once you get that information
in there, you know,

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you draw your nice pedigree

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and ask the right questions,
gather the right information,

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then how do you interpret that?

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What does it actually mean?

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We'll talk about that.

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And then we'll go from genes to disease.

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And here's where we're
gonna be talking about

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other than just those large
scale chromosomal disorders,

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actually looking at mutations,

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which are changes in our gene sequence

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that can result in disease
and how that actually happens.

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Then we're gonna move into,

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in the second half of the course,

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some really specific
clinical applications here.

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Oncology, immunogenetics,
psychiatric disorders

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and public health will all be covered

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in modules eight through 11.

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And so for each of these, we're going

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to dive in a little bit deeper
into those subject areas.

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And then ethical, legal
and social implications

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is in module 12.

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This is an important set of topics

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and we'll really cover this
throughout the whole semester,

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but we have a whole week
dedicated just to this.

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And then we'll wrap it up

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with the genetic testing over
the lifespan of an individual.

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So everything from really

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before even conception up through death

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and where genetic testing can fit in there

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and what it means at each stage of life,

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because it means very different things

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depending upon the stage of life.

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Finally, health and wellness,
this will be our last module

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and it's important, I
think it's important not

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to just look at pathologies,

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but also to look at overall
wellness, nutrition, health,

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exercise, those types of subjects

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and how they can be related
into genetics just as much

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as many of these
well-studied pathologies can.

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So with that, this is
really gonna be our semester

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and I'm really, really looking forward

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to engaging with each of you in this

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and hope that you're
excited by these topics

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and you know that we're going

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to go along for a ride together.

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And I think at the end of it,

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I'm certainly hopeful that you will feel

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as though this has been
a good use of your time

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and your energy to invest in this course.

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So with that, I will say goodbye

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and I will speak with you
again in the next lecture.