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[Instructor] Hello, and
welcome to the first lecture

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in the first module of the course.

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In this lecture, it's going to
be just a high-level overview

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of an Introduction to Genetics
in the Clinical Setting,

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just to help set the stage

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for why this really matters
in the nursing context

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and what the expectations are from the ANA

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with respect to what's
expected for graduate nurses

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to understand about genetics and genomics.

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And just to give you,

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again, just a real high-level overview

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of genetics in the clinical setting.

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So, why is genetics important
in nursing practice?

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Well, genetics is really
one of the main drivers

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behind why we see the individuality we do

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in health and disease,

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and also in response to many
kinds of treatment approaches.

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There's often a genetic component

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that varies in terms of its overall impact

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depending upon particulars of the disease

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and of the individual.

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However, it really does
have a significant influence

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over how folks will develop,

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develop health issues,

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or, again, respond to
treatments and therapies.

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So, it's becoming there
are clear associations,

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and those associations
are becoming clearer

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actually with each passing year

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from a clinical research side of things

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to link these differences
that we're seeing

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in responsiveness to therapies

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and the ways that diseases
play out in unique individuals

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that that can be attributed in many cases

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to something related to genetics.

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And this can provide critical clues

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in the diagnosis and optimal treatment

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of really an enormous range of diseases.

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And that range only seems to widen

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as we understand more

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about the etiology of disease.

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And I'm just listing a few here,

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and these are some of
the most common diseases,

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cancer, cardiovascular
diseases, mental illnesses,

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developmental disorders, diabetes,

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asthma, Alzheimer's, autism,
and many more diseases have,

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and to varying degrees, a
genetic component to them.

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And we'll talk throughout the semester

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about what that actually means

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when we say a genetic component
versus a genetic disease.

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So, there's a lot going on

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with respect to genetics
in health and disease.

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You can look at this list of diseases,

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and without a doubt,

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these are some of the most common diseases

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that we struggle with.

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And if we look not only
at the different kinds

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of diseases and health conditions,

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but also looking at
over the entire lifespan

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of an individual, how
genetics can play a role.

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And this is going to come up

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as we talk about different
stages of genetic testing

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and interpreting those
results in the utility

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of different genetic tests

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that varies according to lifespan.

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Everything from prenatal,

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or we could actually take it
back a step before prenatal,

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preconception counseling when a couple

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is considering having a child.

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that there are questions
that might come up

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if there's family histories
on either or both sides

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of genetic conditions

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or they're in a particular race

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or ethnic group that
has a higher incidence

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of particular genetic disease,

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that there may be some testing

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that would be worthwhile

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on the preconception side of things,

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but certainly prenatal, neonatal,

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pediatric, adult, and geriatric,

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there are different kinds of genetic tests

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that become relevant

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and can inform different kinds
of health-related decisions.

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Why do you need to know this now?

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Well, as you've probably can appreciate,

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genetic testing is becoming a common tool

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in clinical diagnoses, in screening,

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and in treatment planning.

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We were just talking
about over the lifespan

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how genetic testing can
play different roles

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and as far as and helping to inform

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different kinds of clinical decisions

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and life decisions for folks.

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Genetic testing is just really
increasing with each year.

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In 5-10 years,

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and we're probably actually on
the shorter end of that now,

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more like the 4-5 years timeframe,

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perhaps even shorter than that, we'll see,

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whole genome sequencing will be affordable

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and readily available and
will increasingly influence

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clinical care and personalized
approaches to health.

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So, we're gonna talk
about this in more detail

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when we get into some more about genomics,

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but just to give you a sense
of where we're going with this,

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when we're talking about
whole genome sequencing,

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that would essentially be getting

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instead of just doing
a single genetic test

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where we might be looking at
to see, you know, for example,

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to assist in a diagnosis of
something like cystic fibrosis

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or sickle cell anemia,

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where you would just
sequence a single gene

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that's known to be
involved in that disease,

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whole genome sequencing

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would just be to get your entire genome,

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the entire sequence for your whole,

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for every single gene that you have,

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and interpret it in a way

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that can look at current symptoms
an individual might have,

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but also might be helpful with predicting

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the course of health for an individual.

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And that can help inform
some preventive measures

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that might be more personalized

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for one person versus another,

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that might be more effective
for one person versus another.

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So, it's only increasing, as
I mentioned, with each year.

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And with the technology
becoming more and more available

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and cheaper and cheaper,

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this is only going to
continue to increase.

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Public exposure to advances

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in genetic technologies and
research is growing rapidly,

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leading to patients being
oftentimes misinformed or confused

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is because this is complicated,

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it's not easy to understand

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what a lot of the jargon means

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or how to interpret genetic test results

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in the context of an
individual's personal health

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and how that could
influence their decisions.

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However, the public is
having more and more access

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to this kind of information

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and potentially with less
knowledgeable guidance

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on how to interpret that.

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And they're looking to
their healthcare providers,

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in particular, their nurses,

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to help them understand what this means.

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So, it wouldn't be uncommon
for you to have a patient

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approach you with some
genetic test results

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that they had gotten from another source,

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be it another healthcare provider

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or even a direct-to-consumer testing,

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and we're gonna talk about that

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later in the semester as well,

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and what that means for healthcare.

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But it all sort of comes together

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to create an environment in
which it really is important

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for you to understand this now.

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And finally, genetics plays a role

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in presentation, manifestation,
and treatment response

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in nearly every disease.

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And that's not an exaggeration,

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and we're going to talk
about throughout the semester

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what that actually means.

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But having basic understanding of genetics

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is critical in any practice.

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So, this is not just relegated any longer

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to the clinical genetics practice,

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or even the pediatrics practice,

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or obstetrics where
you might think, "Okay,

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that's where genetics lives

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is in those particular niches."

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But it's not the case any longer,

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I mean, ordering genetic testing

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and interpreting genetic test results,

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taking family history,
that's genetic information.

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This is happening a across

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really all areas of medicine.

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So, it's becoming increasingly important

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that all healthcare providers

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are well-informed in
genetics and genomics,

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which you will be in taking,

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and that is certainly my goal for you

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in you taking this course.

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So, what does the ANA expect
you to know about genetics

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as a registered nurse?

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First, professional responsibilities,

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to stay up to date on genetic science,

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advocate for and communicate to patients.

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And a nursing assessment
to understand relationship

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between genetics and disease,

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create a three-generation pedigree,

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incorporate genetics into health plans.

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On the identification side

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to identify those who may benefit

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from genetic information or services

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and any related issues.

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So, again, identifying that,

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not necessarily holding you responsible

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for being their genetic counselor

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or being a clinical genetic nurse,

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but being able to identify those patients

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who maybe could benefit from a referral

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or from some other kind of genetic testing

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that might apply in this situation.

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Referral activities,
facilitating referrals

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to genetic specialists where appropriate.

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And education, care, and support,

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providing education, care, and support

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to patients considering

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or those who have received
genetic information or services.

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And if we look into the ANA's categories

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when they have their
essential competencies

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in genetics and genomics for APRNs,

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this document has been provided to you

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in your required reading
for this week as well.

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It was released in September of 2011,

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so just under five years ago now.

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There are 38 competencies,

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and they're organized under
seven different categories,

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and you're encouraged
to read through these.

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And as part of your
assignment for this week

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is to reflect on what
these competencies mean

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and how hopefully you'll
be able to use this course

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as a resource and develop
your own set of resources

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to endeavor to work
towards these competencies

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and in particular, those that you see

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as being most relevant in your practice.

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But the basic categories that
the competencies fall into

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include risk assessment
and interpretation,

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genetic education, counseling,

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testing and results interpretation,
clinical management,

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the ethical, legal, and
social implications,

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professional role,
leadership, and research.

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All right, so what are we
going to talk about this

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in this semester, in this course?

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Well, if you've had a chance to watch

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or to at least to look over the syllabus,

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you have a sense of what the topics are,

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the main topics are

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that we're going to be covering each week.

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But we can kind of bucket
those weekly modules

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into first starting with the
fundamentals of genetics,

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and this is where we're
going to really take it

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down to the molecular level,

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but to the extent that is important

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and helpful for you to
form a solid foundation

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upon which we can build
the clinical knowledge

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and the practical utility of
genetics for your practice.

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So, those will be the first
two modules following this one.

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And that'll follow up

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with aneuploidy and chromosomal disorders,

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so starting to take it more
into the clinical side.

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Family history and
patterns of inheritance,

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from genes to disease,

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so we're going to look at
some disease applications

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more specifically.

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And in the clinical side,

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oncology, immunogenetics,
psychiatric disorders,

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public health.

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And then, we will make
sure to have a whole week

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on the ethical, legal,
and social implications,

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which again, we're gonna be integrating

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throughout the semester,

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but we'll make sure that we
cover that well towards the end,

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and genetic testing.

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And then, finally, looking
at genetic implications

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in health and wellness.

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So, that is what's on
tap for this semester.

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I'm very excited to have the opportunity

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to work with you on this,

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and I look forward to getting to know

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each of you over this semester.

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Please, as we go through,
don't hesitate to contact me

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with any questions that you may have.

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And I definitely encourage you
to use the discussion board

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to talk with each other,
to get to know each other,

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to network, to ask questions,

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to read other people's
questions and responses

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that come up there,

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to post responses to things.

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Really, let's make it your course,

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let's make it the best use of your time

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and your resources and your energy

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that you are dedicating to
this, to this experience.

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I want to make it the best
possible experience for you,

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so please let me know if
there's anything else I can do

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to help enable that.

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But otherwise, I look forward

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to speaking with you
soon in the next module.

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Thanks so much, take care.