[Instructor] Hello, and welcome to the first lecture
in the first module of the course.
In this lecture, it's going to be just a high-level overview
of an Introduction to Genetics in the Clinical Setting,
just to help set the stage
for why this really matters in the nursing context
and what the expectations are from the ANA
with respect to what's expected for graduate nurses
to understand about genetics and genomics.
And just to give you,
again, just a real high-level overview
of genetics in the clinical setting.
So, why is genetics important in nursing practice?
Well, genetics is really one of the main drivers
behind why we see the individuality we do
in health and disease,
and also in response to many kinds of treatment approaches.
There's often a genetic component
that varies in terms of its overall impact
depending upon particulars of the disease
and of the individual.
However, it really does have a significant influence
over how folks will develop,
develop health issues,
or, again, respond to treatments and therapies.
So, it's becoming there are clear associations,
and those associations are becoming clearer
actually with each passing year
from a clinical research side of things
to link these differences that we're seeing
in responsiveness to therapies
and the ways that diseases play out in unique individuals
that that can be attributed in many cases
to something related to genetics.
And this can provide critical clues
in the diagnosis and optimal treatment
of really an enormous range of diseases.
And that range only seems to widen
as we understand more
about the etiology of disease.
And I'm just listing a few here,
and these are some of the most common diseases,
cancer, cardiovascular diseases, mental illnesses,
developmental disorders, diabetes,
asthma, Alzheimer's, autism, and many more diseases have,
and to varying degrees, a genetic component to them.
And we'll talk throughout the semester
about what that actually means
when we say a genetic component versus a genetic disease.
So, there's a lot going on
with respect to genetics in health and disease.
You can look at this list of diseases,
and without a doubt,
these are some of the most common diseases
that we struggle with.
And if we look not only at the different kinds
of diseases and health conditions,
but also looking at over the entire lifespan
of an individual, how genetics can play a role.
And this is going to come up
as we talk about different stages of genetic testing
and interpreting those results in the utility
of different genetic tests
that varies according to lifespan.
Everything from prenatal,
or we could actually take it back a step before prenatal,
preconception counseling when a couple
is considering having a child.
that there are questions that might come up
if there's family histories on either or both sides
of genetic conditions
or they're in a particular race
or ethnic group that has a higher incidence
of particular genetic disease,
that there may be some testing
that would be worthwhile
on the preconception side of things,
but certainly prenatal, neonatal,
pediatric, adult, and geriatric,
there are different kinds of genetic tests
that become relevant
and can inform different kinds of health-related decisions.
Why do you need to know this now?
Well, as you've probably can appreciate,
genetic testing is becoming a common tool
in clinical diagnoses, in screening,
and in treatment planning.
We were just talking about over the lifespan
how genetic testing can play different roles
and as far as and helping to inform
different kinds of clinical decisions
and life decisions for folks.
Genetic testing is just really increasing with each year.
In 5-10 years,
and we're probably actually on the shorter end of that now,
more like the 4-5 years timeframe,
perhaps even shorter than that, we'll see,
whole genome sequencing will be affordable
and readily available and will increasingly influence
clinical care and personalized approaches to health.
So, we're gonna talk about this in more detail
when we get into some more about genomics,
but just to give you a sense of where we're going with this,
when we're talking about whole genome sequencing,
that would essentially be getting
instead of just doing a single genetic test
where we might be looking at to see, you know, for example,
to assist in a diagnosis of something like cystic fibrosis
or sickle cell anemia,
where you would just sequence a single gene
that's known to be involved in that disease,
whole genome sequencing
would just be to get your entire genome,
the entire sequence for your whole,
for every single gene that you have,
and interpret it in a way
that can look at current symptoms an individual might have,
but also might be helpful with predicting
the course of health for an individual.
And that can help inform some preventive measures
that might be more personalized
for one person versus another,
that might be more effective for one person versus another.
So, it's only increasing, as I mentioned, with each year.
And with the technology becoming more and more available
and cheaper and cheaper,
this is only going to continue to increase.
Public exposure to advances
in genetic technologies and research is growing rapidly,
leading to patients being oftentimes misinformed or confused
is because this is complicated,
it's not easy to understand
what a lot of the jargon means
or how to interpret genetic test results
in the context of an individual's personal health
and how that could influence their decisions.
However, the public is having more and more access
to this kind of information
and potentially with less knowledgeable guidance
on how to interpret that.
And they're looking to their healthcare providers,
in particular, their nurses,
to help them understand what this means.
So, it wouldn't be uncommon for you to have a patient
approach you with some genetic test results
that they had gotten from another source,
be it another healthcare provider
or even a direct-to-consumer testing,
and we're gonna talk about that
later in the semester as well,
and what that means for healthcare.
But it all sort of comes together
to create an environment in which it really is important
for you to understand this now.
And finally, genetics plays a role
in presentation, manifestation, and treatment response
in nearly every disease.
And that's not an exaggeration,
and we're going to talk about throughout the semester
what that actually means.
But having basic understanding of genetics
is critical in any practice.
So, this is not just relegated any longer
to the clinical genetics practice,
or even the pediatrics practice,
or obstetrics where you might think, "Okay,
that's where genetics lives
is in those particular niches."
But it's not the case any longer,
I mean, ordering genetic testing
and interpreting genetic test results,
taking family history, that's genetic information.
This is happening a across
really all areas of medicine.
So, it's becoming increasingly important
that all healthcare providers
are well-informed in genetics and genomics,
which you will be in taking,
and that is certainly my goal for you
in you taking this course.
So, what does the ANA expect you to know about genetics
as a registered nurse?
First, professional responsibilities,
to stay up to date on genetic science,
advocate for and communicate to patients.
And a nursing assessment to understand relationship
between genetics and disease,
create a three-generation pedigree,
incorporate genetics into health plans.
On the identification side
to identify those who may benefit
from genetic information or services
and any related issues.
So, again, identifying that,
not necessarily holding you responsible
for being their genetic counselor
or being a clinical genetic nurse,
but being able to identify those patients
who maybe could benefit from a referral
or from some other kind of genetic testing
that might apply in this situation.
Referral activities, facilitating referrals
to genetic specialists where appropriate.
And education, care, and support,
providing education, care, and support
to patients considering
or those who have received genetic information or services.
And if we look into the ANA's categories
when they have their essential competencies
in genetics and genomics for APRNs,
this document has been provided to you
in your required reading for this week as well.
It was released in September of 2011,
so just under five years ago now.
There are 38 competencies,
and they're organized under seven different categories,
and you're encouraged to read through these.
And as part of your assignment for this week
is to reflect on what these competencies mean
and how hopefully you'll be able to use this course
as a resource and develop your own set of resources
to endeavor to work towards these competencies
and in particular, those that you see
as being most relevant in your practice.
But the basic categories that the competencies fall into
include risk assessment and interpretation,
genetic education, counseling,
testing and results interpretation, clinical management,
the ethical, legal, and social implications,
professional role, leadership, and research.
All right, so what are we going to talk about this
in this semester, in this course?
Well, if you've had a chance to watch
or to at least to look over the syllabus,
you have a sense of what the topics are,
the main topics are
that we're going to be covering each week.
But we can kind of bucket those weekly modules
into first starting with the fundamentals of genetics,
and this is where we're going to really take it
down to the molecular level,
but to the extent that is important
and helpful for you to form a solid foundation
upon which we can build the clinical knowledge
and the practical utility of genetics for your practice.
So, those will be the first two modules following this one.
And that'll follow up
with aneuploidy and chromosomal disorders,
so starting to take it more into the clinical side.
Family history and patterns of inheritance,
from genes to disease,
so we're going to look at some disease applications
more specifically.
And in the clinical side,
oncology, immunogenetics, psychiatric disorders,
public health.
And then, we will make sure to have a whole week
on the ethical, legal, and social implications,
which again, we're gonna be integrating
throughout the semester,
but we'll make sure that we cover that well towards the end,
and genetic testing.
And then, finally, looking at genetic implications
in health and wellness.
So, that is what's on tap for this semester.
I'm very excited to have the opportunity
to work with you on this,
and I look forward to getting to know
each of you over this semester.
Please, as we go through, don't hesitate to contact me
with any questions that you may have.
And I definitely encourage you to use the discussion board
to talk with each other, to get to know each other,
to network, to ask questions,
to read other people's questions and responses
that come up there,
to post responses to things.
Really, let's make it your course,
let's make it the best use of your time
and your resources and your energy
that you are dedicating to this, to this experience.
I want to make it the best possible experience for you,
so please let me know if there's anything else I can do
to help enable that.
But otherwise, I look forward
to speaking with you soon in the next module.
Thanks so much, take care.