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Title: GeneticsGenomics Nursing Competency: Implications for Education, Practice and Research


1
Genetics/Genomics Nursing Competency
Implications for Education, Practice and Research
Kathleen Calzone, MSN, RN, APNG, FAAN National
Institutes of Health, National Cancer Institute,
Center for Cancer Research-Genetics
Branch and Jean Jenkins, PhD, RN, FAAN National
Institutes of Health, National Human Genome
Research Institute
2
Definitions
  • Genetics study of individual genes and their
    impact on relatively rare single gene disorders
  • Genomics study of all the genes in the human
    genome together, including their interactions
    with each other, the environment, and other
    psychosocial and cultural factors

3
Overview of the Session
  • Relevance of Genetics and Genomics to Nursing
    Practice
  • The Essential Nursing Competencies and Curricula
    Guidelines for Genetics and Genomics
  • Competency Outcome Indicators
  • Genetics/Genomics and AACN Baccalaureate
    Essentials
  • Models of Genetic and Genomic Curriculum
    Integration Resources for Nursing Educators
  • Implications for Nursing Research
  • Discussion/Questions and Answers

4
Cumulative Pace of Disease Gene Discovery
1981-2005
Number of Genes Associated with Disease
Year
Source Online Mendelian Inheritance in Man
5
Nursing Population
  • There are more than 2,900,000 nurses as of March
    2004
  • 2,915,309 current licenses to practice as
    registered nurses
  • 2,421,351 employed in nursing
  • 1,360,847 in a hospital setting

U.S. DHHS (2005). The Registered Nurse
Population Preliminary Findings from the
National Sample Survey Of Registered Nurses ,
March 2004., HRSA, Bureau of Health Professions,
Division of Nursing.
6
Nursing Background
  • Genetic and genomic content is not consistently
    incorporated into 2007 NCLEX-RN Detailed Test
    Plan
  • Examination to evaluate entry-level nursing
    competence of candidates for licensure as
    registered nurses
  • Perform health history/health and risk
    assessments (e.g., lifestyle, family and genetic
    history)
  • A systematic evaluation of genetic/genomic
    content in post registered nurse NCLEX
    certification examinations has not been completed

National Council State Boards of Nursing. (2007).
2007 NCLEX-RN Detailed Test Plan.
https//www.ncsbn.org/2007_NCLEX_RN_Detailed_Test_
Plan_Candidate.pdf
7
Barriers to Incorporating Genetics and Genomics
into Nursing Curricula
  • 2005 Nursing Faculty Survey (N224)
  • AIM Determine status of genetics content in
    nursing curricula and compare to 1996 faculty
    survey
  • 29 of schools reported no genetic or genomic
    curriculum content (no change from 1996)
  • Barriers
  • Curriculum too full (92)
  • Faculty not knowledgeable about genetics
    (59.4)
  • Not high enough priority (34.4)
  • Not covered in NCLEX (24.6)
  • Not important for certification (10.3)
  • Not essential to nursing care (9.4)
  • Not applicable or relevant to nursing practice
    (2.2)

Prows, C., Calzone, K., Jenkins, J. (2006).
Genetics content in nursing curriculum. Proc. of
NCHPEG.
8
Estimated Curricular Time Spent on Genetic
Content Categories
Prows, C., Calzone, K., Jenkins, J. (2006).
Genetics content in nursing curriculum. Proc. of
NCHPEG.
9
  • Genetics and genomics mentioned 16 times not
    including genetic/genomic concepts such as
    pedigrees and pharmacogenomics.

10
Executive Summary This document emphasizes such
concepts as patient-centered care,
interprofessional teams, evidence-based practice,
quality improvement, patient safety, informatics,
clinical reasoning/critical thinking, genetics
and genomics, cultural sensitivity,
professionalism, and practice across the lifespan
in an ever-changing and complex healthcare
environment.
11
  • Introduction
  • Scientific advances, particularly in the areas
    of genetics and genomics, have had and will
    continue to have a growing and significant impact
    on prevention, diagnosis, and treatment of
    diseases, illnesses, and conditions.
  • Strong forces influencing the role of nurses
    include
  • Scientific advances, particularly in the area
    of genetics and genomics.

12
The Discipline of Nursing Scientific advances,
(particularly in the areas of genetics and
genomics), changing demographics of patient
populations, new care technologies, and patient
access to health care information call for new
ways of thinking and doing in health care.
13
  • Essential V Healthcare Policy, Finance, and
    Regulatory Environments
  • Sample Content
  • Impact of social trends such as genetics and
    genomics, childhood obesity and aging on health
    policy.

14
  • Essential VII Clinical Prevention and Population
    Health
  • Rationale
  • Epidemiologic studies show that lifestyle,
    environmental, and genetic factors are major
    determinants of population health in areas of
    health, illness, disease, disability, and
    mortality.

15
  • Essential VII Clinical Prevention and Population
    Health
  • The baccalaureate program prepares the graduate
    to
  • Access protective and predictive factors,
    including genetics, which influence the health of
    individuals, families, groups, communities, and
    populations.
  • Conduct a health history, including
    environmental exposure and a family history that
    recognizes genetic risks, to identify current and
    future health problems.

16
  • Essential VII Clinical Prevention and Population
    Health
  • Sample Content
  • genetics and genomics.
  • Pedigree from a three-generation family health
    history using standardized symbols and
    terminology.

17
Essential VIII Professionalism and Professional
Values Rationale In addition, nurses are
prepared to work with patients across the
lifespan who require genetic technologies and
treatment.
18
Essential IX Baccalaureate Generalist Nursing
Practice Rationale In addition, nurses are
prepared to work with patients across the
lifespan who require genetic technologies and
treatment. For example, genetics and genomics
are areas where knowledge is escalating and the
graduate will be cognizant of customized
therapies designed to improve care outcomes.
19
Essential IX Baccalaureate Generalist Nursing
Practice The baccalaureate program prepares the
graduate to 2. Recognize the relationship of
genetics and genomics to health, prevention,
screening, diagnostics, prognostics, selection of
treatment, and monitoring of treatment
effectiveness, using a constructed pedigree from
collected family history information as well as
standardized symbols and terminology.
20
  • Essential IX Baccalaureate Generalist Nursing
    Practice
  • Sample Content
  • genetics and genomics.
  • pharmacology/pharmacogenetics.

21
  • Summary
  • Due to the ever-changing and complex healthcare
    environment, this document emphasizes such
    concepts as patient-centered care,
    interprofessional teams, evidence-based practice,
    quality improvement, patient safety, informatics,
    clinical reasoning/critical thinking, genetics
    and genomics, cultural sensitivity,
    professionalism, practice across the lifespan,
    and end-of-life care.

22
Top Ten Leading Causes of Mortality in the US
National Center for Health Statistics.
http//www.cdc.gov/nchs/fastats/deaths.htm
23
Gene Discoveries for Common Complex Diseases
Type 2 Diabetes Prostate Cancer Systemic Lupus
Erythematosus Myocardial Infarction Inflammatory
Bowel Disease Macular Degeneration
Breast Cancer Alzheimer's Disease
Macular Degeneration
Type 2 Diabetes Psoriasis
Colon Cancer
YR
90
91
92
93
94
95
96
97
98
99
00
01
02
03
04
05
06
07
HapMap Project Completed
Genes and Environment Initiative Launched
Genetic Association Information Network Launched
HapMap Project Initiated
The Cancer Genome Atlas Launched
Human Genome Project Completed
Human Genome Project Begins
NIH Research Initiatives
24
  • Prologue by HHS Secretary Michael O. Leavitt
  • Some Key Points
  • Developed powerful pharmaceuticals yet most
    drugs prescribed in the US today are effective in
    fewer than 60 of treated patients. This efficacy
    rate reflects the variability of metabolism or
    other factors from person to person.
  • Our definitions of diseases remain rooted in
    18th and 19th century terms.

http//www.hhs.gov/myhealthcare/news/phc_2008_repo
rt.pdf
25
Goal of Personalized Medicine
  • Help us achieve the right diagnosis and
    prescribe the right medication for the particular
    individual and exact condition, steadily
    improving on traditional trial-and-error
    approaches
  • Enable us to spot the onset of disease even
    before symptoms appear, and take action to
    preempt or delay onset of the condition and
  • Help us identify our own predisposition to
    disease, so that we can take more effective steps
    to prevent it.

26
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27
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29
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30
FDA Coumadin Labeling
http//www.fda.gov/cder/foi/label/2007/009218s105l
blv2.pdf
31
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32
Emergency Department Visits
  • Centers for Disease Control National ED
    Surveillance 2004-2005
  • Adverse drug events (ADE) defined as undesirable
    pharmacologic or idiosyncratic effects from
    medications administered at correct dosages.
  • ADEs accounted for gt 200,000 ED visits
  • ADEs accounted for gt 36,000 hospitalizations
  • Among individuals gt65 y/o 17.3 of ED visits were
    associated with ADEs from warfarin.

Budnitz, D.S., et al. (2006). National
surveillance of emergency department visits for
outpatient adverse drug events. JAMA, 296,
1858-1866. Budnitz, D.S., et al. (2007).
Medication use leading to emergency department
visits for adverse drug events in older adults.
Annals of Internal Medicine, 147, 755-765.
33
Environment and personal factors play a role in
individual variation
34
Direct to Consumer Marketing
  • Two Separate Issues
  • Claims made about the tests to induce purchase
    (e.g., through advertising)
  • Sale of genetic testing services and provision of
    test results directly to consumers

http//www.navigenics.com/ http//www.decode.com/
35
Direct to Consumer Marketing
  • 23andMe
  • 23andme launched directly to consumers in
    December 2007.
  • Saliva Sample.
  • Evaluating nearly 600,00 SNPs for 90 health
    conditions 399.

http//www.23andme.com
36
Times Best Inventions of 2008
  • October 30, 2008 TIME Magazine announced that
    the Personal Genome Service from 23andMe, Inc.
    has been named 2008's Invention of the Year.

http//www.time.com/time/specials/packages/article
/0,28804,1852747_1854493,00.html
37
How Prevalent is the Uptake?
38
Availability of Genetic and Genomic Testing
  • Prenatal diagnosis
  • Carrier testing
  • Confirmation of a genetic diagnosis
  • Genetic susceptibility
  • Disease screening/diagnosis
  • Pharmacogenomic
  • Disease profiling

39
The Essential Nursing Competencies and Curricula
Guidelines for Genetics and Genomics
  • Define essential genetic and genomic competencies
    for ALL nurses regardless of level of academic
    preparation, practice setting or specialty.
  • Guide curriculum content based on the current
    state of the evidence.
  • Provide the basis for evaluating nurse competence
    in genetics and genomics including
  • NCLEX
  • Certification
  • Maintaining Licensure
  • Prepare the nursing workforce to deliver
    competent nursing care in the genomic era of
    healthcare.

40
Organizational Partnerships
  • Established partnership with key organizations
  • Health Resources and Services Administration
  • American Nurses Association
  • Centers for Disease Control
  • National Institute of Nursing Research

41
Competency Framework
  • Consistent with existing competencies and
    Scope/Standards of Practice
  • Applicable to all nurses regardless of academic
    preparation, role, specialty
  • Focus on genetics AND genomics
  • Clients considered persons, families, communities
    and/or populations
  • Written consistent with Blooms Taxonomy

42
Competency Development
  • Identified, analyzed, reviewed and compared
    available peer reviewed published work reporting
    practice-based genetic and genomic competencies,
    guidelines, and recommendations.
  • Competencies drafted, reviewed, modified and
    approved by a Steering Committee.
  • Competencies reviewed and modified by nurse
    representatives to the National Coalition for
    Health Professional Education in Genetics
    (NCHPEG) in January, 2005.
  • Public comment was solicited with revisions
    incorporated.

43
Consensus Meeting September 21-22, 2005
http//www.nursingworld.org/ethics/genetics
44
Essential Competencies
  • Two Domains
  • Professional Responsibilities
  • Professional Practice
  • Assessment
  • Identification
  • Referral
  • Provision of Education, Care Support

45
Professional Responsibilities
  • Recognize when ones own attitudes and values
    related to genetic and genomic science may affect
    care provided to clients
  • Advocate for clients access to desired
    genetic/genomic services and/or resources
  • Examine competency of practice on a regular
    basis, identifying areas of strength, as well as
    areas in which professional development related
    to genetics and genomics would be beneficial
  • Incorporate genetic and genomic technologies and
    information into registered nurse practice
  • Demonstrate in practice the importance of
    tailoring genetic and genomic information and
    services to clients based on their culture,
    religion, knowledge level, literacy and preferred
    language
  • Advocate for the rights of all clients for
    autonomous, informed genetic and genomic related
    decision-making and voluntary action

46
Assessment
  • The registered nurse
  • Demonstrates an understanding of the relationship
    of genetics/genomics to health, prevention,
    screening, diagnostics, prognostics, selection of
    treatment, and monitoring of treatment
    effectiveness
  • Demonstrates ability to elicit a minimum of three
    generation family health history information
  • Constructs pedigree from collected family history
    information using standardized symbols and
    terminology

47
Assessment, continued
  • Collects personal, health and developmental
    histories that consider genetic, environmental,
    and genomic influences and risks
  • Conducts comprehensive health and physical
    assessments that incorporates knowledge about
    genetic, environmental, and genomic influences
    and risk factors
  • Critically analyzes the history and physical
    assessment findings for genetic, environmental,
    and genomic influences and risk factors
  • Assesses clients knowledge, perceptions, and
    responses to genetic and genomic information
  • Develops plan of care that incorporates genetic
    and genomic assessment information

48
Provision of Education, Care Support
  • The registered nurse
  • Provides clients with interpretation of selective
    genetic and genomic information or services
  • Provides clients with genetic and genomic
    credible, accurate, appropriate and current
    information, resources, services and/or
    technologies that facilitate decision-making
  • Uses health promotion/disease prevention
    practices that
  • Considers genetic and genomic influences on risk
    with personal and environmental risk factors
  • Incorporates knowledge of genetic and/or genomic
    risk factors (e.g., a client with a genetic
    predisposition for high cholesterol that can
    benefit from a change in lifestyle that will
    decrease the likelihood that the genetic risk
    will be expressed)
  • Uses genetic and genomic-based interventions and
    information to improve clients outcomes

49
Provision of Education, Care Support, Continued
  • Collaborates with healthcare providers in
    providing genetic and genomic health care
  • Collaborates with insurance providers/payers to
    facilitate reimbursement for genetic and genomic
    health care services
  • Performs interventions/treatments appropriate to
    clients genetic and genomic health care needs
  • Evaluates impact and effectiveness of genetic and
    genomic technology, information, interventions,
    and treatments on clients outcome

50
Identification
  • The registered nurse
  • Identifies clients who may benefit from specific
    genetic and genomic information and/or services
    based on assessment data
  • Identifies credible, accurate, appropriate and
    current genetic and genomic information,
    resources, services and/or technologies specific
    to given clients
  • Identifies ethical, ethnic/ancestral, cultural,
    religious, legal, fiscal, and societal issues
    related to genetic and genomic information and
    technologies
  • Defines issues that undermine the rights of all
    clients for autonomous, informed genetic and
    genomic-related decision-making and voluntary
    action

51
Referral
  • The registered nurse
  • Facilitates referrals for specialized genetic and
    genomic services for clients as needed

52
Endorsement Status
  • 49 organizations have endorsed including
  • American Academy of Nursing
  • American Association of Colleges of Nursing
  • American Nursing Association
  • American Nurses Credentialing Center
  • International Society of Nurses in Genetics
  • National Coalition for Health Professional
    Education in Genetics
  • National League for Nursing
  • National League for Nursing Accrediting
    Commission
  • Oncology Nursing Society
  • Sigma Theta Tau
  • Southern Regional Education Board Council on
    Collegiate Education for Nursing
  • Unsolicited, endorsements have been received from
    schools of nursing

53
Outcome Indicators
  • Adjunct to the Essential Nursing Competencies and
    Curricula Guidelines for Genetics and Genomics
  • Intended to define for each competency
  • Specific areas of knowledge
  • Clinical performance indicators

54
A Short Story
55
Its one of those times in your life that you
are grateful you had the knowledge.
  • Quote from
  • Barbara Ganster, RN, BSN
  • Breast Cancer Case Manager
  • National Naval Medical Center
  • November 19, 2008

56
Questions
calzonek_at_mail.nih.gov 301-435-0538 Jean.Jenkins_at_n
ih.gov 301-496-4601
http//www.genome.gov/Pages/Careers/HealthProfessi
onalEducation/geneticscompetency.pdf
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