Essentials of Genetic and Genomic Nursing - American Nurses

ESSENTIALS OF

GENETIC AND GENOMIC NURSING:COMPETENCIES, CURRICULA GUIDELINES,

AND OUTCOME INDICATORS,2ND EDITION

First edition—Competencies and Curricula Guidelines established

by Consensus Panel, September 21–22, 2005and published by the American Nurses Association,

Silver Spring, Maryland2006

Second edition—Outcome Indicators established by Consensus,

June 2008

Gen-Gen Competencies Cover NEW:Layout 1 1/29/2009 3:45 PM Page 2

ESSENTIALS OF

GENETIC AND GENOMIC NURSING:COMPETENCIES, CURRICULA GUIDELINES,

AND OUTCOME INDICATORS,2ND EDITION

First edition—Competencies and Curricula Guidelines established

by Consensus Panel, September 21–22, 2005and published by the American Nurses Association,

Silver Spring, Maryland2006

Second edition—Outcome Indicators established by Consensus,

June 2008

Gen-Gen Competencies Book NEW:Layout 1 1/29/2009 3:43 PM Page i

Library of Congress Cataloging-in-Publication dataEssentials of genetic and genomic nursing: competencies, curricula guidelines,and outcome indicators, 2nd edition : established by consensus panel,September 21–22, 2005 . . . outcome indicators established by consensusJune 2008 / Jean F. Jenkins . . . [et al.].

p. ; cm.Includes bibliographical references.ISBN-13: 978-1-55810-263-7ISBN-10: 1-55810-263-91. Genetic counseling. 2. Nursing. 3. Genomes. 4. Medical genetics.I. Jenkins, Jean F. II. American Nurses Association.[DNLM: 1. Genetics, Medical--standards--United States--Guideline.2. Education, Nursing--standards--United States--Guideline. 3. Genomics--standards--United States--Guideline. 4. Professional Competence--standards--United States--Guideline. QZ 50 E78 2008]

RB155.7.E872 2008362.196'042--dc22

2008023924

This publication— Essentials of Genetic and Genomic Nursing: Competencies,Curricula Guidelines, and Outcome Indicators, 2nd Edition— reflects the thinkingof the nursing profession on various issues and should be reviewed in conjunc-tion with state board of nursing policies and practices. State law, rules, and reg-ulations govern the practice of nursing, while Essentials of Genetic and GenomicNursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd Editionguides nurses in the application of their professional skills and responsibilities.

Support for this initiative has been obtained from:• National Human Genome Research Institute, National Institutes of Health• Office of Rare Diseases, National Institutes of Health• American Nurses Association

A limited number of print copies are available from NHGRI, NIH Bldg. 31Rm. 4B09 Bethesda, MD 20892-2152 or the PDF can be accessed at eitherhttp://www.genome.gov/17517037 OR http://www.nursingworld.org/MainMenuCategories/ThePracticeofProfessionalNursing/EthicsStandards/CEHR/Genetics_1.aspx

© 2009 American Nurses Association. All rights reserved. Any part of this bookmay be reproduced or utilized in any form or any means without permissionin writing from the publisher. Please do, however, cite this publication as thesource: Consensus Panel on Genetic/Genomic Nursing Competencies (2009).Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines,and Outcome Indicators, 2nd Edition. Silver Spring, MD: American NursesAssociation.

ISBN-13: 978-1-55810-263-7 ISBN-10: 1-55810-263-9First edition published September 2006. Second edition published February2009.

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Table of Contents iii

TABLE OF CONTENTS

Preamble .................................................................................................................... 1

Contributors, Consensus Panel, and Endorsing Organizations ...... 2

Background and Context of the Competencies ...................................... 7Purpose ............................................................................................................ 8Applicability .................................................................................................... 8Definitions ...................................................................................................... 8Development of the Competencies and Process of Consensus .... 9

Resource/Reference Documents .................................................... 9Competency Development ............................................................ 10Process of Consensus ........................................................................ 10

Essential Competencies .................................................................................. 11Professional Responsibilities .................................................................. 11Professional Practice Domain ................................................................ 11

Nursing Assessment: Applying/IntegratingGenetic and Genomic Knowledge ........................................ 11

Identification ........................................................................................ 12Referral Activities ................................................................................ 12Provision of Education, Care, and Support .............................. 13

Outcome Indicators.......................................................................... 15Introduction .................................................................................................. 15Definitions...................................................................................................... 15Domain: Professional Responsibilities ................................................ 16Domain: Professional Practice ................................................................ 19

Nursing Assessment .......................................................................... 19Identification ........................................................................................ 26Referral Activities ................................................................................ 30Provision of Education, Care, and Support ................................ 31

Implementation Strategies ............................................................................ 37Key Strategies .............................................................................................. 37Incorporation of Competencies, Content,

and Teaching Strategies into the Curriculum .......................... 38

References Cited in Text .................................................................................. 41

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iv Essentials of Genetic and Genomic Nursing, 2nd Edition

Appendix A. Resources to Support the Genetics and GenomicsCompetencies ................................................................................................ 45Books and Monographs .......................................................................... 46Career Development: Continuing Education .................................. 49Career Development: Post-Graduate Programs ............................ 51Clinical Genetics ........................................................................................ 53Consumer/Client: General Information .............................................. 54Consumer/Client: Support and Advocacy Groups ........................ 56ELSI (Ethical, Legal, and Social Implications),

Policy, and Legislation ...................................................................... 57Family History Tools .................................................................................. 60Genome Research ...................................................................................... 61Health Professional Practice and Education .................................... 63Internal Review Boards (IRBs) ................................................................ 66News Sites Specializing in Genetics and Genomics ...................... 67Professional Organizations: Genetics ................................................ 68Professional Organizations: Nursing Practice .................................. 69Risk Assessment .......................................................................................... 71Search Engines Specializing in Genetics and Genomics ............ 72United States Government Agencies ................................................ 73

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Preamble 1

PREAMBLE

Genomics is a central science for all nursing practice because essen-tially all diseases and conditions have a genetic or genomic compo-nent. Health care for all persons will increasingly include genetic andgenomic information along the pathways of prevention, screening,diagnostics, prognostics, selection of treatment, and monitoring oftreatment effectiveness.

The essential competencies were developed by an independentpanel of nurse leaders from clinical, research, and academic settings(identified on the next page) whose goal was to establish the mini-mum basis by which to prepare the nursing workforce to deliver com-petent genetic- and genomic-focused nursing care. These competen-cies are not intended to replace or recreate existing standards of practice,but are intended to incorporate the genetic and genomic perspective intoall nursing education and practice.

The competencies were developed on the basis of:

• The results of a review of peer-reviewed published workreporting practice-based genetic and genomic competen-cies, guidelines, and recommendations.

• Input from nurse representatives to the National Coalitionfor Health Professional Education in Genetics (NCHPEG)meeting in January, 2005.

• Public comment from the nursing community at large.• Statements from conference attendees during open com-

ment periods during a two-day meeting of key stakeholders(listed on pages 3 and 4) held September 21 and 22, 2005.

The competencies are based on the state of the evidence avail-able at the time they were developed and reflect the MINIMAL amountof genetic and genomic competency expected by every nurse. Thesecompetencies reflect a consensus and are NOT from any federal agencyor single nursing organization, and they are applicable to the practiceof all registered nurses regardless of academic preparation, practicesetting, role, or specialty.

The nursing organizations that have endorsed the competencies(see pages 5 and 6) agreewith the content, and they support and promoteinitiatives within their own organization to implement the competencies.

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2 Essentials of Genetic and Genomic Nursing, 2nd Edition

CONTRIBUTORS, CONSENSUS PANEL,AND ENDORSING ORGANIZATIONS

Steering CommitteeCo-ChairsJean Jenkins, PhD, RN, FAAN National Human Genome

Research InstituteKathleen Calzone, MSN, RN, APNG, International Society of Nurses inFAAN Genetics

National Cancer InstituteMembersLaurie Badzek, RN, MS, JD, LLM American Nurses AssociationCarolyn Constantin, RNC, PhD Centers for Disease Control and

PreventionAnnette Debisette, DNSc, RN, ANP Health Resources and Services

AdministrationSuzanne Feetham, PhD, RN, FAAN Health Resources and Services

AdministrationDenise Geolot, PhD, RN, FAAN Health Resources and Services

AdministrationPamela Hagan, MSN, RN American Nurses AssociationMadeleine Hess, PhD, RN Health Resources and Services

AdministrationDale Lea, MS, RN, MPH, CGC, APNG, National Human GenomeFAAN Research Institute

Judith Lewis, PhD, RNC, FAAN Virginia CommonwealthUniversity

Kerry Nesseler, MS, RN Health Resources and ServicesAdministration

Kathleen Potempa, DNSc, RN, FAAN Oregon Health and ScienceUniversity

Cynthia Prows, MSN, RN Cincinnati Children's HospitalMedical Center

Elizabeth Thomson, DNSc, RN, CGC, National Human GenomeFAAN Research Institute

Melinda Tinkle, PhD, RN National Institute of NursingResearch

Janet Williams, PhD, RN, FAAN University of Iowa


Contributors, Consensus Panel, and Endorsing Organizations 3

Consensus PanelBadzek, Laurie American Nurses Association (ANA)Beauchesne, Michelle National Organization of Nurse Practitioner

FacultiesBickford, Carol American Nurses Association (ANA)Calzone, Kathleen A. International Society of Nurses in Genetics

(ISONG)National Cancer Institute/NIH

Cashion, Ann King University of Tennessee Health ScienceCenter

Chornick, Nancy National Council of State Boards of NursingDebisette, Annette Tyree DHHS/HRSA/BHPr/OAAFeetham, Suzanne DHHS/HRSA/Center for QualityFete, Mary Dermatology Nurses AssociationGeolot, Denise H. DHHS/HRSA/BHPr/DNGoolsby, Mary Jo American Academy of Nurse PractitionersGreco, Karen Elaine Oregon Health and Science UniversityHagan, Pam American Nurses Association (ANA)Hess, Madeleine DHHS/HRSA/BHPr/GecHickey, Joanne American Nurses Credentialing Center

(ANCC)Jenkins, Jean F. National Human Genome Research

Institute/NIHJungquist, Carla American Society for Pain Management

Nursing (ASPMN)Kenner, Carole A. National Association of Neonatal NursesKirk, Maggie University of Glamorgan

NMS National Genetics Education andDevelopment Centre

Lea, Dale Halsey National Human Genome ResearchInstitute/NIH

Lewis, Judith A. Virginia Commonwealth UniversityLittlejohn, Sandra National Alaska Native American Indian

Nurses AssociationMalloy, Pam American Association of Colleges of

Nursing (AACN)Masny, Agnes Oncology Nursing Society (ONS)Messmer, Patricia R. NLNAC and Miami Children's Hospital



Moore, Mary Kay Developmental Disabilities NursesAssociation

Mott, Sandra Society of Pediatric NursesNesseler, Kerry Paige DHHS/HRSA/BHPrOlsen, Sharon The Johns Hopkins University School

of Nursing/SREBPicard, Carol Sigma Theta Tau InternationalPotempa, Kathleen Oregon Health and Science UniversityProws, Cynthia A. Children's Hospital Medical CenterPuetz, Belinda E. National Nursing Staff Development

OrganizationRamirez, Carmen T. National Association Hispanic NursesRepta, Shirley American Psychiatric Nurses AssociationRivera, Reynaldo Philippine Nurses Association of AmericaRuhl, Catherine Association of Women's Health,

Obstretric and Neonatal Nurses(AWHONN)

Rust, Jo Ellen National Association of Clinical NurseSpecialists

Ryan-Kraus, Patricia National Association of Pediatric NursePractitioners (NAPNAP)

Scales, Rosemary Pediatric Endocrinology Nursing SocietySchiefelbein, Julieanne The Academy of Neonatal NursingSchumann, Mary Jean American Nurses Association (ANA)Shaver, Joan American Academy of NursingShinn, Linda J. Consensus Management GroupThomson, Elizabeth National Human Genome Research

Institute/NIH/ELSI ResearchTinkle, Melinda National Institute for Nursing Research

(NINR)Valiga, Theresa M. National League for Nursing (NLN)Wicks, Terry C. American Association of Nurse

AnesthetistsWilliams, Charlene American Academy of Ambulatory

Care Nursing (AAACN)Williams, Janet K. University of IowaYeo, Seonae Asian American/Pacific Islander Nurses

Association


Contributors, Consensus Panel, and Endorsing Organizations 5

Academy of Medical-SurgicalNurses

Academy of Neonatal Nurses LLC

American Academy of AmbulatoryCare Nursing

American Academy of Nursing

American Association of Collegesof Nursing

American Association ofNeuroscience Nurses

American Association ofOccupational Health Nurses

American Nephrology NursesAssociation

American Nurses Association

American Nurses CredentialingCenter

American Psychiatric NursesAssociation

American Radiological NursesAssociation

American Society of PainManagement Nursing

American Society of Plastic SurgicalNurses

Association of Pediatric OncologyNurses

Association of periOperativeRegistered Nurses

Association of Women's Health,Obstetric and Neonatal Nurses

Council of Cardiovascular Nursingof the American HeartAssociation

Council of International NeonatalNurses

Dermatology Nurses Association

Developmental Disabilities NursesAssociation

Genetic Alliance

Hospice and Palliative NursesAssociation

International Society of Nurses inGenetics

March of Dimes

National Association of ClinicalNurse Specialists

National Association of HispanicNurses

National Association of NeonatalNurses

National Association of OrthopedicNurses

National Association of PediatricNurse Practitioners

National Coalition for HealthProfessional Education inGenetics

National Coalition of EthnicMinority Nurse Associations

National Conference ofGerontological NursePractitioners

National Gerontological NursingAssociation

National League for Nursing

National League for NursingAccrediting Commission

National Nursing StaffDevelopment Organization

National Organization of NursePractitioner Faculties

Endorsing Organizations



Oncology Nursing Society

Pediatric Endocrinology NursingSociety

Philippine Nurses Association ofAmerica

Sigma Theta Tau International

Society for Vascular Nursing

Society of Gastroenterology Nursesand Associates

Society of Pediatric Nurses

Society of Urologic Nurses andAssociates

Southern Regional EducationBoard Council on CollegiateEducation for Nursing

Johns Hopkins University School ofNursing

Nell HodgsonWoodruff School ofNursing, Emory University

Endorsing Schools of Nursing


BACKGROUND AND CONTEXT OF THE COMPETENCIES

Genetic and genomic science is redefining the understanding of thecontinuum of human health and illness. Therefore, recognition ofgenomics as a central science for health professional knowledge isessential. Because essentially all diseases and conditions have a genet-ic or genomic component, options for care for all persons will increas-ingly include genetic and genomic information along the pathways ofprevention, screening, diagnostics, prognostics, selection of treatment,and monitoring of treatment effectiveness. The clinical application ofgenetic and genomic knowledge has major implications for the entirenursing profession regardless of academic preparation, role, or prac-tice setting.

The public will increasingly expect that the registered nurse (RN)will use genetic and genomic information and technology when pro-viding care. These expectations have direct implications for RNpreparatory curricula, as well as for the 2.9 million practicing nurses.The rate of progress for applying a genomic approach throughout thecontinuum of care depends not only on technologic advances, butalso on nursing expertise. In its report on genetics and nursing in2000, an expert Health Resources and Services Administration (HRSA)panel emphasized the importance of integrating genetics content intonursing curricula in order to provide an adequately prepared nursingworkforce now and for the future.1 To care for persons/families/communities and/or populations throughout the life span, registerednurses will need to demonstrate proficiency with incorporatinggenetic and genomic information into their practice. For example:

• Understand the genetic and genomic basis of health and/oran illness for which the person is seeking care and the vari-ables that impact his or her response.

• Recognize a newborn at risk for morbidity or mortalityresulting from genetic metabolism errors.

• Identify an asymptomatic adolescent who is at high risk forhereditary colon cancer.

• Identify a couple at risk for having a child with a geneticcondition.

• Guide interventions for the prevention of cardiovascular dis-ease in young adults.

Background and Context of the Competencies 7


• Facilitate drug selection or dosage in treatment of an adultwith cancer based on molecular markers.

• Promote informed consent that includes the risks, benefits,and limitations of participation in genetic research.

• Assist anyone having questions about genetic and genomicinformation or services.

• Identify Caucasians of northern European descent (a popula-tion at risk for hemachromatosis) who have joint disease,severe and continuing fatigue, heart disease, elevated liverenzymes, impotence, and diabetes, because they are candi-dates for hemochromatosis HFE genetic testing.

PurposeThe primary purpose of this document is to define essential geneticand genomic competencies for all registered nurses. This document isintended to guide nurse educators in the design and implementationof learning experiences that help students/learners/practicing nursesachieve these genetic and genomic competencies. These competen-cies are not intended to replace or recreate existing standards of prac-tice but are intended to incorporate the genetic and genomic per-spective into all nursing education and practice. The goal is to preparethe nursing workforce to deliver competent genetic- and genomic-focused nursing care.

ApplicabilityThe genetic and genomic competencies are integral to the practice ofall registered nurses regardless of academic preparation, practice set-ting, role, or specialty.

DefinitionsThe first two definitions of two central and somewhat overlappingterms remain a work in progress, because the new knowledge pro-duced by genome research will create an ongoing need to assess andrevise our understanding of the influence of both genetic and genom-ic factors for health outcomes. For the purpose of this document, bothgenetic and genomic information will be used as the context fordefining required competencies.

• Genetics – Study of individual genes and their impact on rel-atively rare single gene disorders.2



• Genomics – Study of all the genes in the human genometogether, including their interactions with each other, theenvironment, and the influence of other psychosocial andcultural factors.2

The rest of the key definitions are more established, but areoffered to clarify the use in this report of what can have more generalmeanings:

• Clients – Recipients of health care may include persons,families, communities, and/or populations from any race,ethnicity/ancestry, culture, or religious background. Theterm clients will be used throughout the document to reflectthe focus of nursing care.

• Pedigree – A graphic illustration of a family health historyusing standardized symbols.3

• Resources – A collection of genetic and genomic tools andsites for healthcare referrals for delivery of nursing care.

• Services – The delivery of genetic and genomic health care.• Technology – The use of tools and/or machines to perform

tasks; in this case, the identification and assessment of geneticand genomic information (e.g., the use of micoarray technolo-gy to assess the genetic features of a specific tumor).

Development of the Competencies andProcess of ConsensusThe development of this document and its underlying competenciesare described below.

Resource/Reference DocumentsThe Steering Committee identified, reviewed, analyzed, and comparedcompetencies recommended in existing published and peer-revieweddocuments.4–12 A pre-publication manuscript by Greco and Salveson13reported on a qualitative analysis of published competency recom-mendations, including many of the above documents.4, 5, 8, 9 In addition,a competence-based education framework developed in the UnitedKingdom was used as a resource document.14 Analysis of these docu-ments and resources identified fundamental genetic and genomiccompetencies applicable for all registered nurses. A summary of avail-able resources is provided in Appendix A.

Background and Context of the Competencies 9


Competency DevelopmentBased on the review of earlier peer-reviewed published work reportingpractice-based genetic and genomic competencies, guidelines, and recom-mendations, a group of nurse leaders from clinical, research, and academicsettings developed these proposed competencies. The proposed compe-tencies were approved by a steering committee of federal, academic, andnational leaders in nursing. In addition, these competencies were reviewedby nurse representatives to the National Coalition for Health ProfessionalEducation in Genetics (NCHPEG) meeting in 2005 with subsequent revisionto integrate their comments. To assist the development process, publiccomments, especially from the nursing community, were solicited.

Process of ConsensusThe four-phase consensus process that guided the creation of this doc-ument is described below.

• Phase I: The Steering Committee reviewed and provided com-ments on the preliminary document. This revised draft docu-ment was shared with nursing representatives attending theNational Coalition for Health Professional Education in Geneticsmeeting (January 2005) to further define and structure theserecommended essential nursing competencies in genetics andgenomics.

• Phase II : Additional review of the revised essentials documentcommenced with the posting for public comment athttp://NursingWorld.org/ethics/genetics and announcement tothe American Nurses Association (ANA) and its constituentmembers and organizational affiliates, the NursingOrganizations AllianceTM, and other nursing organizations. Allcomments were carefully considered and appropriate revisionsincorporated as indicated.

• Phase III: Ameeting of key stakeholders was held September 21and 22, 2005, to establish consensus on the final competencydocument by key stakeholders. This meeting’s participants (con-sensus panel) are listed on pages 3 and 4. Strategies to integrategenetic and genomic information into education and practicewere proposed and then discussed, with identification of stepsto include in an action plan for integration of recommendedgenetic and genomic nursing competencies content into curric-ula, the NCLEX examination, specialty certification processes,and accreditation programs.

• Phase IV: Endorsement of the final document by all NursingOrganizations AllianceTM member organizations was requestedby March 2006.



ESSENTIAL COMPETENCIES

Professional ResponsibilitiesAll registered nurses are expected to engage in professional role activ-ities that are consistent with Nursing: Scope and Standards of Practice(2004) by the American Nurses Association.15 In addition, competentnursing practice now requires the incorporation of genetic andgenomic knowledge and skills in order to:

• Recognize when one’s own attitudes and values related togenetic and genomic science may affect care provided toclients.

• Advocate for clients’ access to desired genetic/genomic serv-ices and/or resources including support groups.

• Examine competency of practice on a regular basis, identify-ing areas of strength, as well as areas in which professionaldevelopment related to genetics and genomics would bebeneficial.

• Incorporate genetic and genomic technologies and informa-tion into registered nurse practice.

• Demonstrate in practice the importance of tailoring geneticand genomic information and services to clients based ontheir culture, religion, knowledge level, literacy, and pre-ferred language.

• Advocate for the rights of all clients for autonomous,informed genetic- and genomic-related decision-makingand voluntary action.

Professional Practice DomainNursing Assessment: Applying/IntegratingGenetic and Genomic KnowledgeThe registered nurse:

• Demonstrates an understanding of the relationship ofgenetics and genomics to health, prevention, screening,diagnostics, prognostics, selection of treatment, and moni-toring of treatment effectiveness.

• Demonstrates ability to elicit a minimum of three-generation family health history information.

Essential Competencies 11


• Constructs a pedigree from collected family history informa-tion using standardized symbols and terminology.

• Collects personal, health, and developmental histories thatconsider genetic, environmental, and genomic influencesand risks.

• Conducts comprehensive health and physical assessmentswhich incorporate knowledge about genetic, environmental,and genomic influences and risk factors.

• Critically analyzes the history and physical assessment find-ings for genetic, environmental, and genomic influences andrisk factors.

• Assesses clients’ knowledge, perceptions, and responses togenetic and genomic information.

• Develops a plan of care that incorporates genetic andgenomic assessment information.

IdentificationThe registered nurse:

• Identifies clients who may benefit from specific genetic andgenomic information and/or services based on assessmentdata.

• Identifies credible, accurate, appropriate, and current geneticand genomic information, resources, services, and/or tech-nologies specific to given clients.

• Identifies ethical, ethnic/ancestral, cultural, religious, legal,fiscal, and societal issues related to genetic and genomicinformation and technologies.

• Defines issues that undermine the rights of all clients forautonomous, informed genetic- and genomic-relateddecision-making and voluntary action.

Referral ActivitiesThe registered nurse:

• Facilitates referrals for specialized genetic and genomicservices for clients as needed.



Provision of Education, Care, and SupportThe registered nurse:

• Provides clients with interpretation of selective genetic andgenomic information or services.

• Provides clients with credible, accurate, appropriate, and cur-rent genetic and genomic information, resources, services,and/or technologies that facilitate decision-making.

• Uses health promotion/disease prevention practices that:

• Consider genetic and genomic influences on personal andenvironmental risk factors.

• Incorporate knowledge of genetic and/or genomic riskfactors (e.g., a client with a genetic predisposition for highcholesterol who can benefit from a change in lifestyle thatwill decrease the likelihood that the genetic risk will beexpressed).

• Uses genetic- and genomic-based interventions and infor-mation to improve clients’ outcomes.

• Collaborates with healthcare providers in providing geneticand genomic health care.

• Collaborates with insurance providers/payers to facilitatereimbursement for genetic and genomic healthcare services.

• Performs interventions/treatments appropriate to clients’genetic and genomic healthcare needs.

• Evaluates impact and effectiveness of genetic and genomictechnology, information, interventions, and treatments onclients’ outcome.

Essential Competencies 13


14


ESSENTIAL NURSING COMPETENCIES AND CURRICULAGUIDELINES FOR GENETICS AND GENOMICS:

OUTCOME INDICATORS

IntroductionThe Outcome Indicators are an adjunct to the Essential NursingCompetencies and Curricula Guidelines for Genetics and Genomicsand are intended to define for each competency the knowledge andpractice indicators. The knowledge and practice indicators are notintended to be prescriptive but provide a guide to the user of essen-tial knowledge elements and suggested practice indicators. To be con-sistent with the Competencies, definitions will be identical betweenthe two documents. Genetic and genomic information will be used asthe context for defining knowledge and practice indicators for eachcompetency.

DefinitionsGenetics – Study of individual genes and their impact on relativelyrare single gene disorders

Genomics – Study of all the genes in the human genome together,including their interactions with each other, the environment, andthe influence of other psychosocial and cultural factors.

Clients/Clients – Recipients of health care may include persons,families, communities, and/or populations from any race, ethnicity/ancestry, culture, or religious background. The term clients will beused throughout the document to reflect the focus of nursing care.

Pedigree – A graphic illustration of a family health history using stan-dardized symbols.

Resources – A collection of genetic and genomic tools and sites forhealthcare referrals for delivery of nursing care.

Services – The delivery of genetic and genomic health care.

Technology – The use of tools and/or machines to perform tasks; inthis case, the identification and assessment of genetic and genomicinformation (e.g., the use of microarray technology to assess thegenetic features of a specific tumor).

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 15


Outcome Indicators


Domain: Professional Responsibilities

Recognize when one’s own attitudes and values related to genetic and genomicscience may affect care provided to clients.

Specific Areas of Knowledge Clinical Performance Indicators

Values, attitudes and beliefs thatinfluence genetic and genomicservices (e.g., views on pregnancytermination).Impact of personal values, attitudesand beliefs on genetic and genomichealth care.

Engage in reflective practice aboutone’s own beliefs and values relatedto client care that integrates geneticsand genomics.Articulate one’s attitudes, values andbeliefs that influence one’s perspec-tive about difficult genetic orgenomic healthcare decisions.

Advocate for clients’access to desired genetic/genomic services and/or resourcesincluding support groups.


Resources for healthcare profession-als and lay public about: disease sus-ceptibility; genetic/genomic condi-tions, treatment, and prognosis (e.g.,nursing literature, evidence-basedwebsites sites such as the NationalHuman Genome Research Institutehttp://www.genome.gov/ and theCenters for Disease Control NationalOffice of Public Health Genomicshttp://www.cdc.gov/genomics/).Resources for genetic and/orgenomic referrals within one’scommunity.

Demonstrate appropriate care andconcern for all clients throughouttheir referral, provision of direct careand follow-up to genetic services.Demonstrate knowledge aboutaccessing local/regional geneticand/or genomic resources.Include genetic healthcare profes-sionals in team building and collabo-rative strategies to optimize clientoutcomes.Help client negotiate system barriersthat limit access to genetic/genomicservices including access to clinicaltrials.Identify strategies that could be usedto facilitate reimbursement for accessto genetic/genomic services and/ortests.



Examine competency of practice on a regular basis, identifying areas of strength,as well as areas in which professional development related to genetics andgenomics would be beneficial.


Scope of nursing practice in relationto genetics/genomics.Role of specialist genetic/genomicservices and other agencies in provid-ing competent client care.Interprofessional resources that con-tribute to evidence based care ofclients needing genetic/genomicresources or services.

Identify relevance of genetics/genomics to nursing practice.Demonstrate awareness of theboundaries of one’s own professionalpractice in relation to genetics/genomics.Perform regular self assessments toidentify knowledge and skills deficitsthat could impact the quality of nurs-ing care one provides to clients inneed of genetic/genomic guidance,referral and resources.Take action to meet identified knowl-edge and skills deficits related togenetics and genomics.

Incorporate genetic and genomic technologies and information into registerednurse practice.


Technology and information systemsfor clinical care and clinical decision-making including:• Electronic health and medicalrecords

• Client monitoring systems, medica-tion administration

• Genetic and genomic testing tech-nologies

• Other technologies that supportgenetic and genomic based clientcare

Evaluate genetic and genomic tech-nologies used in client care.Demonstrate use of genetic andgenomic technology and client datafor clinical decision-making in provid-ing safe client care.Identify the credibility, reliability andlimitations of genetic and genomicinformation.Identify ethical, legal, and social issuesassociated with genetic/genomicinformation.



Demonstrate in practice the importance of tailoring genetic and genomic infor-mation and services to clients based on their culture, religion, knowledge level,literacy, and preferred language.


Cultural, social, ethnic and religiousperspectives and literacy that mayinfluence client’s access and/or abilityto use genetic and genomic informa-tion and services.Economic and health disparities relat-ed to genetics and genomics.

Incorporate client’s cultural, social,ethnic and religious perspective andliteracy level when delivering geneticand genomic care.Integrate knowledge from psycholo-gy, history, politics, sociology and cul-ture when delivering genetic andgenomic care.

Advocate for the rights of all clients for autonomous, informed genetic- andgenomic- related decision-making and voluntary action.


Potential benefits, risks and limitationsof genetic/genomic testing andaccessing genetic/genomic informa-tion.Ethical, legal and social issues sur-rounding access to and use of geneticand genomic information.Impact of genetic and genomic infor-mation on individuals, familymembers, communities and/orpopulations.Components of informed decision-making including:• Types of information needed• Barriers to making an informeddecision

• Autonomous decision-making asappropriate

Ensure privacy when discussinggenetic and genomic information.Maintain confidentiality when record-ing genetic and genomic information.Demonstrate awareness of the poten-tial impact of genetic/genomic infor-mation on the individual and otherfamily members.Respond appropriately to inquiriesabout genetic and genomic health-care concerns.



Domain: Professional PracticeEssential Competency: Nursing Assessment:

Applying/Integrating Genetic and Genomic Knowledge

Demonstrates an understanding of the relationship of genetics and genomics tohealth, prevention, screening, diagnostics, prognostics, selection of treatment,and monitoring of treatment effectiveness.


Relationship of genetics andgenomics to health, prevention,screening, diagnostics, prognostics,selection of treatment, and monitor-ing of treatment effectiveness.Relationship of genetics andgenomics to normal physiology andpathophysiology including:Basics of gene function and geneticmutations in individual andpopulations:• Germline mutations, somaticmutations, polymorphisms

• Selected mutations associatedwith single gene disorders,chronic disease

• Concept of genotype/phenotype• Selected genotype predictors fordisease prognosis and treatment

Basic principles of pharmacogeneticsand pharmacogenomics:• Polymorphisms and drugmetabolism

• Selected examples (e.g., Warfarinand CYP polymorphisms)

Patterns of disease associated withsingle gene and multifactorialinheritance.

Collect a client’s personal and threegeneration family health history toassess for genomic factors thatimpact the client’s health.Identify potentially significant infor-mation from a family history.Identify clients who might benefitfrom referral to genetic specialistsand/or information resources.Facilitate appropriate referral togenetic specialists, accurately docu-menting and communicating relevanthistory and clinical data.Describe a typical client journey thatmight be experienced in the processof genetic counseling.Describe genetic/genomic factorsthat contribute to variability ofresponse to pharmacologic agents.Incorporates genetic and genomichealth assessment data into routinelycollected biopsychosocial and envi-ronmental assessments of health andillness parameters in client, using cul-turally sensitive approaches.Identify resources available to assistclients seeking genetic and genomicinformation or services including thetypes of services available.



Demonstrates ability to elicit a minimum of three-generation family healthhistory information.


Components of family history neededto identify disease susceptibility orgenetic/genomic condition:• Standard pedigree nomenclature• Type of information that needs tobe collected and recorded such as:⇒ Disease and age of onset,

ethnicity, both maternal andpaternal lineages

⇒ Three generations⇒ Existing family history tools

Demonstrate ability to elicit a com-plete three-generation family healthhistory.Identify available family history toolsto facilitate collection of family healthhistory information.

Constructs a pedigree from collected family history information using stan-dardized symbols and terminology.





Demonstrate ability to elicit a com-plete three-generation family healthhistory.Construct a pedigree from collectedfamily history information using stan-dardized symbols and terminology.Identify available family history toolsto generate and document a pedi-gree (e.g., Surgeon General’s FamilyHealth Portrait).



Collects personal, health, and developmental histories that consider genetic,environmental, and genomic influences and risks.


Fundamentals of genetic and genomicfocused health assessment.Basics of risk factors:• Indicators of disease susceptibilityor a genetic condition:

• Family history:⇒ Red flags of genetic/genomic

conditions such as:• disease found primarily inmales

• early age of onset for chronicadult onset disease

• multiple cases of rare disease⇒ Confounders:

• race and ethnicity• Physical findings• Health history:⇒ Environmental and lifestyle

factors⇒ Social and emotional status

Demonstrate ability to collect per-sonal, medical and family history thatincludes genetic/genomic as well asenvironmental risks.



Conducts comprehensive health and physical assessments which incorporateknowledge about genetic, environmental, and genomic influences and riskfactors.


Fundamentals of genetic and genomicfocused health and physicalassessment.Basics of risk factors:• Indicators of disease susceptibilityor a genetic condition:






factors⇒ Multifactorial influence

Incorporate genetic and genomichealth assessment data into routinelycollected biopsychosocial and envi-ronmental assessments of health andillness parameters in client, using cul-turally sensitive approaches.



Critically analyzes the history and physical assessment findings for genetic,environmental, and genomic influences and risk factors.


Pathophysiological, medical and nurs-ing evaluation of common acute andchronic disease.• Indicators of disease susceptibilityor a genetic condition






factors⇒ Multifactorial influence

Assessment and diagnosis of acuteand chronic disease including pre-disposition to disease based ongenetic and genomic risk factors.

Identify genetic and genomic factorswithin collected history and physicalassessment data that contribute todisease and/or health risks.Demonstrate ability to incorporatefamily history as part of the nursingassessment.• Documents family history informa-tion on three-generations on bothmaternal and paternal side, whenavailable

• Documents key genetic andgenomic assessment information

Identify components of assessmentdata that contribute to diseaseand/or health risks to establish a planof care.



Assesses clients’ knowledge, perceptions, and responses to genetic and genomicinformation.


Cultural, social, ethnic and religious per-spectives may influence client’s ability touse genetic and genomic information andservices.Social and psychological implications ofaccessing genetic services and informa-tion.Ethical and legal issues surroundinggenetic and genomic information andservices.Principles of autonomous decision-makingin genetic counseling.Principles of client genetic/genomic edu-cation and counseling.

Demonstrate the ability to assess clientscultural, religious and ethnic perspectiveswith regards to genetics and genomics.Demonstrate an awareness of the client’sbackground in facilitating communicationabout genetic and genomic issues.Demonstrate the ability to use resources tofacilitate effective communication andaccess to genetic services.Use communication skills to promote andcheck the clients’understanding of geneticand genomic information.Demonstrate an awareness of client’sneeds, showing fairness and sensitivitywhen exploring the rationale for seekingspecialist genetic advice/referral.Identify situations when the nurse’s ownbeliefs and values may have potential toinfluence the genetic and genomic caregiven to clients.Identify situations where clients’ownbeliefs and/or values influence genetic andgenomic care choices.Use communication skills to enable theclient to express his or her own wishes, orto pursue a chosen course of action forgenetic and genomic services.Display a non-judgmental attitude at alltimes.Demonstrate use of language appropriateto the client’s level of understanding anddevelopmental age when explaininggenetic and genomic information.Demonstrate assessment of the clients’understanding of genetic and genomicinformation.Demonstrate assessment of social andpsychological responses to genetic/genomic information.



Develops a plan of care that incorporates genetic and genomic assessmentinformation.


Interprofessional plan of care:• Assessment, diagnosis and careplanning from a genetic andgenomic perspective

• Client goals• Expected outcomes• Genetic and genomic resources• Implications for both the individualand their family

Develop, in partnership with theclient, a healthcare plan that takesinto account genetic and genomicdeterminants of health, availableresources, and range of activities thatcontribute to health and preventionof illness, injury, disability and pre-mature death.Integrate best evidence, clinical judg-ment, client preferences, and familyimplications in planning genetic andgenomic focused individualized care.


Domain: Professional PracticeEssential Competency: Identification

Identifies clients who may benefit from specific genetic and genomic information and/orservices based on assessment data.


Components of family history needed toidentify disease susceptibility or genetic/genomic condition.• Standard pedigree nomenclature• Type of information that needs to becollected and recorded such as:⇒ Disease and age of onset, ethnicity,

both maternal and paternal lineages⇒ Three generations⇒ Existing family history tools

Inheritance patterns:• Single gene• MultifactorialIndicators of disease susceptibility or agenetic condition:• Family history⇒ Red flags of genetic/genomic condi-

tions such as:• disease found primarily in males,• early age of onset for chronic adultonset disease,


• race and ethnicity• Physical findings• Health history:⇒ Environmental and lifestyle factors⇒ Multifactorial influence

Common health conditions with a genetic/genomic component to disease suscepti-bility, screening and detection, diagnosis,treatment, and prognosis.Indicators of need for targeted treatmentselection• known targeted interventions available• genetic tests available• adverse drug reaction• altered response to intervention

Demonstrate ability to elicit a completethree-generation family health history.Construct a pedigree from collected familyhistory information using standardizedsymbols and terminology.Identify factors in a family and health his-tory that contribute to: disease susceptibil-ity; disease characteristics, treatment,prognosis; or genetic/genomic condition.Identify clients who may benefit from fur-ther evaluation of the identified diseasesusceptibility or genetic/genomiccondition.Demonstrate assessment of client con-cerns or understanding about informationreceived from specialty genetic services(i.e., on-line genetic testing results).Demonstrate ability to incorporate familyhistory as part of the nursing assessment.• Documents family history informationon three-generations on both maternaland paternal side, when available.

• Documents key genetic and genomicassessment information.

• Uses genetic and genomic indicators asrationale for clients who may benefitfrom further evaluation or other riskmanagement interventions.

• Incorporate into the interprofessionalplan of care the need for further genetic/genomic evaluation or other risk man-agement interventions in collaborationwith the client.



Identifies credible, accurate, appropriate, and current genetic and genomicinformation, resources, services, and/or technologies specific to given clients.


Resources for healthcare profession-als and lay public about: disease sus-ceptibility; genetic/genomic condi-tions, treatment, and prognosis (e.g.,nursing literature, evidence-basedwebsites sites such as the NationalHuman Genome Research Institutehttp://www.genome.gov/ and theCenters for Disease Control NationalOffice of Public Health Genomicshttp://www.cdc.gov/genomics/).Resources for referral within one’scommunity.Roles of genetic/genomic healthcareprofessionals.Interprofessional resources that con-tribute to evidence based care ofclients needing genetic/genomicresources or services (i.e., EGAPP;AHRQ).

Evaluate strengths, limitations, andbest use of genetic and/or genomicresource for a client or group ofclients.Discuss the ways in which nurses canmeet the educational, psychosocialand resource needs of clients andfamilies affected by a genetic orgenomic condition.Discuss the ways in which nurses canmeet the knowledge, psychosocialand resource needs of clients andfamilies affected by genetic/genomictechnology.Identify resources available to assistclients seeking genetic and genomicinformation or services including thetypes of services available.Develop a list of contacts for a genetic/genomic referral resource in one’scommunity or within one’s respectivehealthcare setting.Evaluate sources of evidence andclinical practice guidelines for a clientwhose care involves genetic and/orgenomic healthcare. Use continuousquality improvement initiatives toupdate practice guidelines asnecessary.



Identifies ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societalissues related to genetic and genomic information and technologies.


Cultural, ethnic, family values, tradi-tions, health beliefs and religious per-spectives that influence access anduse of genetic/genomic informationand services.The components of informeddecision-making including:• Types of information needed• Barriers to making an informeddecision

Sources of genetic information.Capabilities and limitations of currentgenetic/genomic technologies.Ethical issues related to genetic/genomic information and technology(such as confidentiality, privacy, dis-closure, duty to warn).Psychosocial issues and impact ofgenetic/genomic information on indi-vidual and the family (such as emo-tional distress, discrimination).Current state, federal, and militarypolicies that impact genetic/genomicprivacy, health, life, long term careand disability insurance, employment,and other forms of genetic discrimi-nation.

Demonstrate the ability to assess cul-tural, language, family values, tradi-tions, health beliefs and religious per-spectives that influence access to anduse of genetic/genomic information,technology, and services.Identify cultural, language, familyvalues, traditions, health beliefs andreligious perspectives that impactaccess and use of genetic/genomicinformation, technology and services.Identify psychosocial issues andimpact of genetic/genomic informa-tion, technology and services on indi-vidual and the family.Use ethical principles when deliberat-ing genetic/genomic issues ofdecision-making, privacy, confiden-tiality, informed consent, disclosure,access, and personal impact.List action steps to address genetic/genomic ethical issues in practice,(e.g., discuss with nursing teamor supervisor, present to ethicscommittee).Describes the influence of insuranceor other methods of reimbursementfor services on access to genetic andgenomic information andtechnologies.



Defines issues that undermine the rights of all clients for autonomous, informedgenetic- and genomic-related decision-making and voluntary action.


Current state, federal, and militarypolicies that impact genetic/genomicprivacy, health, life, long term careand disability insurance, employmentand other forms of genetic discrimi-nation.The components of informeddecision-making including types ofinformation needed and barriers tomake an informed decision.Past and potential for misuse ofgenetic/genomic information andtechnology.Guidelines or policies regardingaccess to genetic/genomic informa-tion and technology (i.e., children,vulnerable populations, economics).

Identify respective genetic statelegislation.Identify examples of misuse ofgenetic/genomic information andtechnology.Describe legal and social issues relat-ed to access and use of genetic infor-mation and technology.Access interprofessional ethicalresources when trying to resolveethical dilemmas.



Domain: Professional PracticeEssential Competency: Referral Activities

Facilitates referrals for specialized genetic and genomic services for clients asneeded.


Professional roles of providers deliver-ing genetic and genomic services.Resources for healthcare profession-als and lay public about: disease sus-ceptibility; genetic/genomic condi-tions, treatment, and prognosis (e.g.,nursing literature, evidence-basedwebsites sites such as the NationalHuman Genome Research Institutehttp://www.genome.gov/ and theCenters for Disease Control NationalOffice of Public Health Genomicshttp://www.cdc.gov/genomics/).Resources for genetic and genomicreferrals within the community.

Develop an interprofessional plan ofcare in collaboration with the clientthat incorporates genetics andgenomics.Uses genetic and genomic indicatorsas rationale for clients who may bene-fit from further evaluation or otherrisk management interventions.Develop a list of contacts for a genetic/genomic referral resource in one’scommunity or within one’s respectivehealthcare setting.Develop a plan for follow-up of aclient post genetics/genomic referral.



Domain: Professional PracticeEssential Competency: Provision of Education,

Care and Support

Provides clients with interpretation of selective genetic and genomic informa-tion or services.





Inheritance patterns• Single gene• MultifactorialRole of environmental and psycho-social factors involved in penetranceof predisposition gene variants.Informed consent procedures andessential elements.

Discuss factors in a family and healthhistory that contribute to: diseasesusceptibility; disease characteristics,treatment, prognosis; or a genetic/genomic condition.Use family history information toinform health education.Discuss the role of genetic, genomic,environmental and psychosocialfactors in maintaining health andpreventing disease.Discuss the role of genetic, genomic,environmental and psychosocialfactors in the manifestation of disease.Reinforce/clarify information provid-ed by genetic professional to client(i.e., genetic test interpretation;informed consent).


Provides clients with credible, accurate, appropriate, and current genetic andgenomic information, resources, services, and/or technologies that facilitatedecision-making.


Resources for healthcare profession-als and lay public about: disease sus-ceptibility; genetic/genomic condi-tions, treatment, and prognosis (e.g.,nursing literature, evidence-basedwebsites sites such as the NationalHuman Genome Research Institutehttp://www.genome.gov/ and theCenters for Disease Control NationalOffice of Public Health Genomicshttp://www.cdc.gov/genomics/).Referral resources for genetic andgenomic services within one’scommunity.Roles of genetic/genomic healthcareprofessionals.

Evaluate strengths, limitations, andbest use of one genetic and/orgenomic resource for a client orgroup of clients.Help clients interpret and understandgenetic and genomic information.Develop a list of contacts for a genetic/genomic referral resource in one’scommunity or within one’s respectivehealthcare setting.

Uses health promotion/disease prevention practices that:• Consider genetic and genomic influences on personal and environmentalrisk factors.

• Incorporate knowledge of genetic and/or genomic risk factors (e.g., a clientwith a genetic predisposition for high cholesterol who can benefit from achange in lifestyle that will decrease the likelihood that the genetic risk willbe expressed)


Role of environmental and psycho-social factors involved in penetranceof predisposition gene variants.Fundamentals of epidemiology, bio-statistics, (distribution, incidence,prevalence rates, risk factors, healthstatus indicators, and control ofdisease in populations).Ongoing research contributing toimproved understanding of thegenetic/genomic influences onhealth.

Incorporate genetic and genomichealth assessment data into routinelycollected biopsychosocial and envi-ronmental assessments of health andillness parameters in client, using cul-turally sensitive approaches.Use evaluation results to influencedelivery of care and deployment ofresources to promote health and pre-vent disease.


Uses genetic- and genomic-based interventions and information to improveclients’ outcomes.


Pharmacogenetics, pharmaco-genomics.Geneor geneproduct targeted therapy(e.g., HER2 and Herceptin BCR/ABLand imatinib).Protein replacement therapy(e.g., enzyme therapy for lysosomaldiseases).Chaperone therapy.

Demonstrate ability to incorporatefamily history as part of the nursingassessment.• Document family history informa-tion on three-generations on bothmaternal and paternal side, whenavailable

• Documents key genetic andgenomic assessment information

• Uses genetic and genomic indica-tors as rationale for clients whomay benefit from further evalua-tion or other risk managementinterventions

• Incorporate into the interprofession-al plan of care the need for furthergenetic/genomic evaluation orother risk management interven-tions in collaboration with the client

Monitor client response to genetic/genomic based interventions.Intervene when client has an un-intended response to genetic/genomic based interventions toensure client safety.

Collaborates with healthcare providers in providing genetic and genomic healthcare.


Roles of genetic/genomic healthcareprofessionals.Roles of other specialists in whichgenetic/genomic information andtechnology are integral to their caredelivery.

Use interprofessional communicationand collaboration skills to deliver safe,evidence-based, client-centered care.Demonstrate team building and col-laborative strategies when workingwith interprofessional teams.Adopt a range of interpersonal skillswhilst communicating with clientsand colleagues about genetic/genomic issues.



Collaborates with insurance providers/payers to facilitate reimbursement forgenetic and genomic healthcare services.


Determinants of clinical utility ofgenetic/genomic tests(e.g., test specificity, sensitivity,positive predictive value;test cost-benefit information).Economic impact of new genetic/genomic based therapies:• Can be life-long therapy once started• Consideration of individual/familymaximum lifetime benefit

Influence of predisposition genevariants, genetic disease/disorder onaccess to health, life, disability, longterm care insurances and militarybenefits.

Identify strategies that could be useto facilitate reimbursement for genetic/genomic services and/or tests.Describe other methods of paymentfor genetic/genomic healthcareservices (i.e., laboratory indigentassistance programs).



Performs interventions/treatments appropriate to clients’ genetic and genomichealthcare needs.


Pharmacogenetics, pharmaco-genomicsGeneor geneproduct targeted therapy(e.g., HER2 and HerceptinBCR/ABL and imatinib).Protein replacement therapy(e.g., enzyme therapy for lysosomaldiseases).Chaperone therapy (small moleculesthat specifically bind to and stabilizea misfolded protein in the endo-plasmic reticulum of a cell).

Administer medications safely withconsideration of pharmacogenetictest results if available.Administer prescribed genetic/genomic based therapies safely asallowed per State Practice Act.Monitor client response to genetic/genomic based interventions.Intervene when client has an un-intended response to genetic/genomic based interventions toassure client safety.Teach client about purpose, expectedbenefits, limitations and potentialrisks of genetic/genomic basedinterventions.

Evaluates impact and effectiveness of genetic and genomic technology, infor-mation, interventions, and treatments on clients’ outcome.


Range of psychosocial responses togenetic and/or genomic test results,genetic diagnosis and prognosis.Expected outcomes of various genetic/genomic based interventions.

Assess client response to genetic/genomic information.Assess client response to genetic/genomic based interventions.Assess client response to genetic/genomic services.Use evaluation of genetic/genomictechnology, information and interven-tions to modify client’s plan of care.


36


IMPLEMENTATION STRATEGIES

Practice and curriculum change requires the commitment of nursingleaders and academic faculty to develop a long-term plan to incorpo-rate genetic and genomic information in order to improve the public’shealth. Faculty and practicing nurses must be supported by their insti-tutions to attend continuing education or academic courses to updatetheir genetic and genomic knowledge. Collaboration with other disci-plines is necessary to provide a strong foundation of knowledge ofbasic human genetics and current applications to practice.

Key StrategiesSome strategies to implement the competencies specified in this doc-ument are described briefly below.

• NCLEX – Participate in the NCLEX test development processto ensure inclusion of test items addressing genetic andgenomic knowledge. Continue to include and participate indevelopment of test items assessing integration of geneticand genomic knowledge. Work with the American HospitalAssociation and other regulatory agencies and organiza-tions to incorporate genetics and genomics practice con-tent on assessments of quality which will also influenceNCLEX content.

• Certification – All certification exams should include testitems measuring the knowledge of genetic and genomicinformation pertinent to the specialty for which a registerednurse is being certified.

• Practicing Nurses – Practicing nurses should be encouragedto pursue genetic and genomic continuing education.Consider establishing a United States National GeneticsEducation and Development Center modeled after theUnited Kingdom initiative which can serve as the centralresource for genetics and genomic education initiatives. Seehttp://www.geneticseducation.nhs.uk

• Accreditation of Programs – The standards for accreditationshould evaluate whether the curriculum is designed to meetthe essential core genetic and genomic competencies. Seehttp://www.nlnac.org/home.htm for the most recent editionof the National League for Nursing Accrediting Commission’saccreditation manual for these standards.

Implementation Strategies 37


• Curricula – Each nursing curriculum preparing registerednurses for practice (at any and all levels) should includegenetic and genomic learning experiences sufficient for allregistered nurses to be proficient in the essential competen-cies. This can be accomplished by incorporating geneticsand genomics learning experiences into existing classes.Refer to Appendix A for resources useful to faculty.

Incorporation of Competencies, Content, andTeaching Strategies into the CurriculumToday’s nursing curriculum is dense, and integrating new informationis a challenge. Since genetic and genomic information is integral andcritical to all areas of nursing practice, curricula must prepare gradu-ates with this information.16 Nursing faculty from 171 nursing schoolscontributed to the development of a checklist which was created tohelp faculty integrate genetics content into nursing curricula.17 Animportant initial strategy noted in the checklist is to determine whatcontent is already being taught in pre-nursing and nursing courses.Once content gaps are identified, many curriculum change strategiescan be used to add genetic and genomic content to instructionalresources.18 Potential solutions include incorporating genetics andgenomics as a central science including the following:

• Add genetic and genomic content to existing lectures;

• Integrate assignments and test questions incorporatinggenetic and genomic knowledge into existing courses;

• Include genetic- and genomic-focused objectives in allnursing courses;

• Create a curriculum thread focused on genetics andgenomics;

• Develop an elective genetics and genomics nursing coursethat can be transitioned into a required course; and

• Collaborate with interdisciplinary colleagues to designcourses and curricula.

Outcomes associated with some of the curriculum options listedabove have already been published.19 A theory-based approach tointegrating genetics into one school’s nursing curriculum is welldescribed by Horner et al.20 Integrative approaches in associate andbaccalaureate programs have been published by Danz (2004),Zamerowski (2000), and Read et al. (2004).21, 22, 23



Development of a single genetic and genomic nursing courseincorporated into the curriculum has also been described.24 The abilityof faculty to effectively incorporate genetics and genomics contentinto the nursing curricula hinges on the availability of faculty witheducation or expertise in genetics and genomics.25 Outcomes associat-ed with faculty training initiatives addressing this need (includingsummer institutes and a web-based program26, 27, 28) have also beendescribed.

Implementation Strategies 39


40


REFERENCES CITED IN TEXT

All URLs were accessed and confirmed December 22, 2008.

1. Expert Panel Report on Genetics and Nursing. (2000).Implications for Education and Practice. Washington, DC.BHP00177. Available from: http://ask.hrsa.gov/detail.cfm?PubID=BHP00177 HRSA Publication Catalog.

2. Guttmacher, A. and Collins, F. (2002). Genomic medicine:A primer. NEJM 347:1512–20.

3. Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O’Sullivan, C. K.,Resta, R. G., Locher-Doyle, D., Markel, D. S., Vincent, V., andHamanishi, J. (1995). Recommendations for standardizedhuman pedigree nomenclature. American Journal of HumanGenetics 56:745–52.

4. Centers for Disease Control and Prevention (CDC). (2001).Genomic Competencies for all Public Health Professionals[online]. Available: http://www.cdc.goc/genomics/training/competencies/comps.htm

5. International Society of Nurses in Genetics. (1998).Statement on the Scope and Standards of Genetics ClinicalNursing Practice. Washington, DC: American NursesAssociation. Available from: 1-770-442-8633, ext. 295;[online] http://www.isong.org/support/scope.cfm

6. International Society of Nurses in Genetics and AmericanNurses Association. (2006). Genetics/Genomics Nursing:Scope and Standards of Practice. Silver Spring, MD.:Nursesbooks.org.

7. Jenkins, J. F., Dimond, E., and Steinberg, S. (2001). Preparingfor the future through genetics nursing education. Journal ofNursing Scholarship 33(2):191–95.

8. Jenkins, J. F., Prows, C., Dimond, E., Monsen, R., andWilliams,J. (2001). Recommendations for educating nurses in genetics.Journal of Professional Nursing 17(6):283–90.

9. National Coalition for Health Professional Education inGenetics (NCHPEG). (2007). Core Competencies in GeneticsEssential for all Health-care Professionals. Available athttp://www.nchpeg.org/

References Cited in Text 41


10. American Association of Colleges of Nursing. (1996). TheEssentials of Master’s Education for Advanced Practice Nursing.Washington, DC.

11. American Association of Colleges of Nursing. (2008). TheEssentials of Baccalaureate Education for ProfessionalEducation. Washington, DC. (http://www.aacn.nche.edu/Education/pdf/BaccEssentials08.pdf )

12. American Association of Colleges of Nursing. (2001).Indicators of Quality in Research-focused Doctoral Programs inNursing. Washington, DC.

13. Greco, K. E. and Salveson, C. (In review process) An evidence-based qualitative analysis identifying fundamental under-graduate nursing competencies in genetics. (Submitted toJournal of Nursing Education for publication.)

14. Kirk, M., McDonald, K., Longley, M., and Anstey, S. et al.(2003). Fit for Practice in the Genetics Era: A Competence-basedEducation Framework for Nurses, Midwives and Health Visitors—Final Report. Pontypridd: University of Glamorgan.(http://www.glam.ac.uk/socs/research/gpu/FinalReport.pdf)

15. American Nurses Association. (2004). Nursing: Scope andStandards of Practice. Nursesbooks.org: Washington, DC.

16. Williams, J. K. (2002). Education for genetics and nursingpractice. AACN Clinical Issues: Current Issues in Genetics13(4):492–500.

17. Hetteberg, C. and Prows, C. A. (2004). A checklist to assist inthe integration of genetics into nursing curricula. NursingOutlook 52(2):85–88.

18. Williams, J. K., Tripp-Reimer, T., Schutte, D., and Barnette, J. J.(2004). Advancing genetic nursing knowledge. NursingOutlook 52(2):73–79.

19. Lea, D. H. and Monson, R. B. (2003). Preparing nurses for a 21stcentury role in genomics-based health care. Nursing EducationPerspectives 24(2):75–80.

20. Horner, S. D., Abel, E., Taylor, K., and Sands, D. (2004). Usingtheory to guide the diffusion of genetics content in nursingcurricula. Nursing Outlook 52(2):80–84.



21. Danz, S. (2004). Integrating Genetics Content in NursingEducation at Delaware Technical and Community College,Jack F. Owens Campus. Doctoral dissertation, University ofDelaware, 2004.

22. Zamerowski, S. T. (2000). A model for integrating geneticsinto nursing education. Nursing Health Care Perspectives21(6):298–304.

23. Read, C.Y., Dylis, A. M., Mott, S. R., and Fairchild, N. J. (2004).Promoting integration of genetics core competencies intoentry-level nursing curricula. Journal of Nursing Education43(8):376–80.

24. Horner, S. D. (2004). A genetics course for advanced clinicalnursing practice. Clinical Nurse Specialist 18(4):194–99.

25. Prows, C. A., Glass, M., Nicol, M. J., Skirton, H., andWilliams, J.(2005). Genomics in nursing education. Journal of NursingScholarship 37(3):196–202.

26. Whitt, K. J. (2005). Experiences from the National Institute ofNursing Research: Summer Genetics Institute 2004. Policy,Politics, and Nursing Practice 6(1):15–16.

27. Prows, C. A., Hetteberg, C., Johnson, N., Latta, K., Lovell, A.,Saal, H. M., andWarren, N. S. (2003). Outcomes of a geneticseducation program for nursing faculty. Nursing EducationPerspectives 24(2):81–85.

28. Prows, C. A., Hetteberg, C., Hopkin, R. J., Latta, K. K., andPowers, S. M. (2004). Development of a web-based geneticsinstitute for a nursing audience. Journal of ContinuingEducation in Nursing 35(5):223–31.

References Cited in Text 43


44


APPENDIX A

RESOURCES TO SUPPORT THE GENETICSAND GENOMICS COMPETENCIES

This appendix brings together the following categories of availableresources that are pertinent to the fundamental genetic and genomiccompetencies for RNs specified in this publication.

Books and MonographsCareer Development: Continuing EducationCareer Development: Post-Graduate ProgramsClinical GeneticsConsumer/Client: General InformationConsumer/Client: Support and Advocacy GroupsELSI (Ethical, Legal, and Social Implications), Policy, andLegislation

Family History ToolsGenome ResearchHealth Professional Practice and EducationInternal Review Boards (IRBs)News Sites Specializing in Genetics and GenomicsProfessional Organizations: GeneticsProfessional Organizations: Nursing PracticeRisk AssessmentSearch Engines Specializing in Genetics and GenomicsUnited States Government Agencies

All online resources were current as of January 29, 2009. Listing of abook in this appendix does not indicate that it is still in print.

Appendix A—Resources to Support Genetics and Genomics Competencies 45


Books and Monographs


ResourceClinical Genetics inNursing Practice, 3rd ed.(2005)By Felissa R. Lashley

Genetics in Nursing(2004)Editors: SuzanneFeetham and JanetWilliams

Genetics in OncologyPractice: Cancer RiskAssessment (2003)Editors Amy StraussTranin, Agnes Masny,and Jean Jenkins

The Genetics Revolution:Implications for Nurses(1997)Editor: Felissa Lashley

Applied Genetics inHealthcare (2005)By Heather Skirton,Christine Patch, andJanet Williams

PublisherSpringer PublishingCompany, Inc.

International Council ofNurseshttp://www.icn.ch/bookshop.htm

Oncology NursingSociety Press

American Academy ofNursing

BIOS Scientific Publishers(New York; Abingdon[England]: Taylor andFrancis Group)

DescriptionNursing and genetics text

Monograph to providedirection for nursing lead-ership in genetics in glob-al, scientific, practice, edu-cation, social, information,ethical and politicalcontexts.

A detailed overview ofgenetics and the implica-tions for cancer nursingpractice.

The first nursing mono-graph to be published onthe profession's responsesto the opportunities andchallenges of the HumanGenome Project and theadvances in gene research.

Test for application ofgenetic and genomicprinciples by nurses whoprovide genetic andgenomic health care asspecialist practitionersand advanced practicenurses



Nursing Care in theGenomic Era: A Case-Based Approach (2005)By Jean F. Jenkins andDale Halsey Lea

Genetics in ClinicalPractice: New Directionsfor Nursing and HealthCare (1998)By Dale Halsey Lea, JeanF. Jenkins, and Clair A.Francomano

Genetic NursingPortfolios: A NewModelfor the Profession (2005)Editor: Rita BlackMonson

Genetics/GenomicsNursing: Scope andStandards of Practice.(2006) by InternationalSociety of Nurses inGenetics, Inc. (ISONG)and American NursesAssociation

Genetics and thePerinatal andWomen’sHealth Nurse (2001)By Judith Lewis

Jones and BartlettPublishers

Jones and BartlettPublishers

American NursesAssociation(Nursesbooks.org)

American NursesAssociation and ISONG(Nursesbooks.org)

Association of Women'sHealth, Obstetric andNeonatal Nurses(AWHONN)

Provides nurses with up-to-date and accessibleinformation on core com-petencies in genetics,interwoven with storiesthat highlight a particularcondition and the relatedbiological, personal, andpsychosocial issues.

Provides a unique, under-standable approach tothe emerging science ofgenetics.

Describes the develop-ment of the GNCC cre-dentialing program. Thebook shows how toassemble and use a port-folio to verify competen-cy in a specialty.

Scope and standards ofpractice for nurses ingenetics

This practice monographprovides nurses with thebasic information theyneed to provide patientswith accurate informa-tion about geneticscreening and testing.



Genetic Issues forPerinatal Nurses (2003)By Janet Williams andDale Halsey LeaEditor: Rita ReisWieczorek

The Nursing Clinics ofNorth America: ClinicalGenetics (2000). Editors:Sharon Olsen, LynnBaxendale-Cox, andVictoria Mock

Cancer Care: A Guide forOncology Nurses (2002)By Dale Halsey Lea,Kathleen Calzone, AgnesMasny, and AnnetteParry Bush

Individuals, Families andthe New Era of Genetics(2006) by S, Miller, S.McDaniel, J. Rolland, andS. Feetham

March of Dimes BirthDefects FoundationEducation ServicesDepartment

W.B. Saunders Company

Oncology NursingSociety Press

W.W. Norton & Co. Inc.

A nursing continuingeducation program thatpresents an update ofgenetics, principles ofinheritance and ethicalprinciples. Provides infor-mation on identificationof actual or potentialgenetic conditions in thefetus, parent, or neonate.

The basics of geneticsand genetic health carefor the practice of everynurse and specialist.

A tool kit to assist thenurse in becoming com-petent in cancer genetics.

Keeping the individualand family in focus dur-ing the era of genetics.



Career Development: Continuing EducationResourceAmerican Society ofClinical Oncology

Cincinnati Children’sHospital Medical Center

City of Hope NationalMedical Center andBeckman ResearchInstitute

Foundation for BloodResearch

Fox Chase Cancer Center

ContactASCO Bookstore1900 Duke Street,Suite 200Alexandria, VA 22314(703) 299-0150http://www.asco.org

3333 Burnet AvenueCincinnati, Ohio 45229-3039(513) 636-4200http://www.cincinnatichildrens.org/ed/clinical/gpnf

1500 E. Duarte RoadDuarte, CA 91010-3000(800) 423-7119http://www.infosci.coh.org/ccgp/ic/course09.aspx

8 Nonesuch RoadP.O. Box 190Scarborough ME 04070-0190(207) 883-4131http://www.fbr.org/publications/pub_curic.html

333 Cottman AvenuePhiladelphia, PA 19111-2497(215) 728-2892 or1-888-369-2427http://www.fccc.edu/healthProfessionals/continuingNursing

DescriptionCancer Genetics andCancer PredispositionGenetic Testing, 2ndEdition: An ASCOCurriculum, includingbinders and CD-ROMslide set.ONCOSEP: Genetics: Atool for self-educationand assessment in genetictesting, risk assessment,and specific areas ofgenetic disease.

Genetics EducationProgram for Nurses: Web-Based Genetics Instituteand Genetics Program forNursing Faculty

Intensive Course inCancer Risk Assessment

Practice-based GeneticsCurriculum For NurseEducators (sample chap-ter available online)

A Basic Course in CancerGenetics: Familial CancerRisk AssessmentAn Advanced Course forNurses in Genetic CancerRisk Counseling



International Society ofNurses in Genetics, Inc.(ISONG)

National Institute ofNursing Research (NINR)

Oncology NursingSociety (ONS)

Education/index.html461 Cochran RoadBox 246Pittsburgh, PA 15228412-344-1414http://www.isong.org/E-mail:[email protected]

Summer GeneticsInstituteDivision of IntramuralResearchNINRNational Institutes ofHealth31 Center Drive, 5B-13Bethesda, MD 20892-2178(202) 255-6922http://www.ninr.nih.gov/Training/TrainingOpportunitiesIntramural/SummerGeneticsInstitute/

125 Enterprise DriveRIDC Park WestPittsburgh, PA 15275-1214(866) 257-4ONSEmail: [email protected]

http://www.ons.org/ceCentral/prevention/

Annual Nursing andGenetic EducationMeeting

Genetics/GenomicsNursing: Scope andStandards of Practice(2006)

Summer GeneticsInstitute programdesigned to providetraining in moleculargenetics for use inresearch and clinicalpractice

Genetics Short Course forCancer Nurses



Career Development: Post-Graduate ProgramsOrganizationColumbia University

University of Iowa

University of Pittsburgh

ContactColumbia UniversitySchool of Nursing617West 168th StreetNew York, NY 10032(212) 305-6761http://www.cumc.columbia.edu/dept/nursing/programs/cg.html

University of IowaCollege of Nursing50 Newton Rd.Iowa City, IA 52242(319)335-7046 or335-7018Attention: Janet Williams,PhD, RNhttp://www.nursing.uiowa.edu/excellence/genetics/index.htm

University of PittsburghSchool of Nursing239 Victoria BuildingPittsburgh, PA 15261(412) 624-4586 or1-888-747-0794http://www.pitt.edu/~nursing/academicprograms/certificates/post_bacc_genetics.html andhttp://www.pitt.edu/~nursing/academicprograms/certificates/post_masters_cert_genetics.html

Program/ResourcesMaster’s degree programwith a clinical geneticssub-specialty

Master’s and PhD degreeprograms in GeneticsNursing

Post-BaccalaureateCertificate in Genetics

Post-Master’s Certificatein Health Care Genetics



University of California,San Francisco

University ofWashington

University of California,San FranciscoDepartment ofPhysiological Nursing2 Koret Way, Suite N-631San Francisco, CA 94143-0610(415) 476-0984Attention: Mary B. Engler,PhD, RN, MShttp://nurseweb.ucsf.edu/www/genomic.htm

University of WashingtonSchool of NursingBox 357260Seattle, WA 98195(206) 221-2458http://www.son.washington.edu/eo/apgn

Master’s and doctoraldegree programs inGenomics

Master’s degree pro-gram with a minor ingenetics nursing(advanced practicegenetics nursing)



Clinical GeneticsResourceGeneTests

Human GenomeEpidemiology Network(HuGENet™)

INFOGENETICS©

National Birth DefectsPrevention Network

National NewbornScreening & GeneticsResource Center

Online MendelianInheritance in Man(OMIM™)

Contacthttp://www.genetests.org/

http://www.cdc.gov/genomics/hugenet/default.htm

http://www.infogenetics.org/

http://www.nbdpn.org

http://genes-r-us.uthscsa.edu/

http://www.ncbi.nlm.nih.gov/omim/

DescriptionInformation for healthprofessionals about hun-dreds of genetic testsand the laboratories per-forming those tests

Network for sharingpopulation-basedhuman genome epi-demiologic information

Clinical practice tools

Network of resources forsurveillance, research,and prevention of birthdefects care

Information andresources nationallyavailable on newbornscreening and genetics

Catalog of human genesand genetic disorders



Consumer/Client: General InformationResourceFamily History CancerRisk Assessment:James Link

The DNA Files

Dolan DNA LearningCenter

Ethics and GeneticTesting for Nurses

Foundations of ClassicalGenetics

Genetic Science LearningCenter

Genetics and RareDiseases InformationCenter

Genetics EducationCenter

Contacthttp://jamesline.com/patientsandvisitors/prevention/cancergenetics/

http://www.dnafiles.org/

http://www.dnalc.org/

https://www.continuetolearn.uiowa.edu/ecomm/ccp/10Expand.asp?ProductCode=096cegenetic

http://www.esp.org/foundations/genetics/classical

http://learn.genetics.utah.edu

http://www.genome.gov/10000409

http://www.kumc.edu/gec/

DescriptionInformation on collect-ing family health historyand assessing cancer risk

A series of 14 one-hourpublic radio documen-taries and related infor-mation (10 more tocome out in 2006)

A variety of educationalresources, including aninteractive DNA timeline

CD-ROM modules onethics, ethics of genetictesting, and case studies

Complete versions ofclassic genetics workswritten between 350B.C. and 1965

Basic genetics, geneticdisorders, genetics insociety, and several the-matic units

Information service forthe general public,including patients andtheir families, as well ashealthcare professionalsand biomedicalresearchers

Material for educators



Genetics HomeReference—NationalLibrary of Medicine

The Human GenomeProject: Exploring OurMolecular Selves

MendelWeb

National Society ofGenetic Counselors—Your Family History

The New Genetics: AResource for Studentsand Teachers

Understanding GeneTesting (from theNational CancerInstitute, NIH)

Understanding Genetics(from the GeneticAlliance)

http://ghr.nlm.nih.gov/

http://www.genome.gov/Pages/EducationKit/

http://www.mendelweb.org/

http://www.nsgc.org/consumer/familytree/index.cfm

http://www4.umdnj.edu/camlbweb/teachgen.html

http://www.cancer.gov/cancertopics/UnderstandingCancer/genetesting

http://geneticalliance.org/understanding.genetics

Consumer informationabout genetic condi-tions and the genesresponsible for thoseconditions

Download modules andonline viewing aboutHuman Genome Project,timeline about genetics,talking glossary, class-room activities, 3-D ani-mation of cell

Mendel's papers inEnglish (with annota-tions) and German andrelated materials

Information on collect-ing family health history

Links to genetic educa-tion resources

Primer on genetic testing

A guide for patients andprofessionals



Consumer/Client: Support and Advocacy GroupsResourceCoalition for GeneticFairness

Family Village

Genetic Alliance

National Organizationfor Rare Disorders(NORD)

Contacthttp://www.geneticfairness.org/

http://www.familyvillage.wisc.edu/index.htmlx

http://www.geneticalliance.org/

http://www.rarediseases.org/

DescriptionAdvocacy group for fed-eral legislation regardinggenetics discrimination

Disability-relatedresources

Wide array of genetic-related information

Rare diseases databaseand index of organiza-tions



ELSI (Ethical, Legal, and Social Implications),Policy, and LegislationResourceAmerican Academy ofPediatrics: Ethical IssuesWith Genetic Testing inPediatrics

Bioethics Resources ontheWeb(NIH)

bioethics.net

Council for ResponsibleGenetics

DNA Patent Database

Ethical, Legal, and SocialIssues (from the HumanGenome Project)

Genethics.ca

Genetics and the Law(from CRG—Council forResponsible Genetics)

Contacthttp://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/6/1451.pdf

http://www.nih.gov/sigs/bioethics/

http://www.bioethics.net/genetics/genetics.php

http://www.genewatch.org/

http://dnapatents.georgetown.edu

http://www.ornl.gov/hgmis/elsi/elsi.html

http://www.Genethics.ca/

http://www.genelaw.info/

DescriptionRecommendations onnewborn screeningand genetic testingin children

Links to bioethicsresources

Links to articles onbioethics and genetics

Information on thesocial, ethical, and envi-ronmental implicationsof genetic technologies

Searchable database ofU.S. DNA-based patentsissued by the U.S. Patentand Trademark Office

Information, articles, andlinks on a wide range ofissues

Information on thesocial, ethical, and policyissues associated withgenetic and genomicknowledge andtechnology

A searchable onlineclearinghouse of infor-mation on emerginglegal developments inhuman genetics



The Genetics and PublicPolicy Center

Genome Technologyand Reproduction:Values and Public Policyand The Communities ofColor and GeneticsPolicy Project

HumGen

National InformationResource on Ethics andHuman Genetics

NCSL (NationalConference of StateLegislatures) GeneticTechnologies Project

The President's Councilon Bioethics

Scope Note Series(Kennedy Institute ofEthics/GeorgetownUniversity)

THOMAS LegislativeInformation (fromLibrary of Congress)

http://www.dnapolicy.org

http://www.sph.umich.edu/genpolicy/

http://www.humgen.umontreal.ca/en/

http://bioethics.georgetown.edu/nirehg/

http://www.ncsl.org/programs/health/genetics.htm

http://www.bioethics.gov/

http://bioethics.georgetown.edu/publications/scopenotes/

http://thomas.loc.gov/

Information on publicpolicy related to humangenetic technologies forthe public, media, andpolicymakers

Two subprojects com-bined to form a five-yearproject designed to pro-vide policy recommen-dations based on publicperceptions andresponses to the explo-sion of genetic informa-tion and technology.

Access to a comprehen-sive international data-base on the legal, social,and ethical aspects ofhuman genetics

Links to resources anddatabases on ethics andhuman genetics

Status of legislativeactions and access topolicy briefs on geneticissues of concern tostate legislators

Information on currentbioethical issues

Annotated bibliogra-phies on various aspectsof genetics and ethics

Searchable database ofU.S. legislation (currentand previous)



Your Genes, YourChoices

http://ehrweb.aaas.org/ehr/books/index.html

Describes the HumanGenome Project, thescience behind it, andthe ethical, legal, andsocial issues that areraised by the project



Family History ToolsResourceAmerican MedicalAssociation: FamilyHistory Tools

Centers for DiseaseControl and Prevention

Cyrillic

Pedigree-Draw

Progeny

U.S. Surgeon General’sFamily History Initiative:“My Family HealthPortrait”

Contacthttp://www.ama-assn.org/ama/pub/category/2380.html

http://www.cdc.gov/genomics/fhix.htm

http://www.cyrillicsoftware.com

http://www.pedigree-draw.com

http://www.progenygenetics.com

http://www.hhs.gov/familyhistory/

DescriptionTools for gatheringfamily history and linksto resources

Family history resourcesand tools

Pedigree drawingsoftware for geneticcounselors and clinicians;links to genetic sites

Pedigree drawing soft-ware for Macintosh

Genetic data manage-ment and pedigreedrawing software

Patient-completedpedigree drawingsoftware



Genome ResearchResourceBLAST Search (part ofEnsembl; see below)

The Cancer GenomeAnatomy Project

Chromosomal Variationin Man

Ensembl(Joint software projectbetween the EuropeanBioinformatics Instituteand the Sanger Institute)

Genome SequencingCenter: Human genomemaps

National Center forBiotechnologyInformation: GenomicBiology

Oak Ridge GenomeChannel

Online MendelianInheritance in Man(OMIM™)

The SNP (SingleNucleotidePolymorphisms)Consortium

Contacthttp://www.ensembl.org/Multi/blastview

http://cgap.nci.nih.gov

http://www.wiley.com/legacy/products/subject/life/borgaonkar/

http://www.Ensembl.org/index.html

http://genome.wustl.edu/

http://www.ncbi.nlm.nih.gov/genome/guide/

http://compbio.ornl.gov/channel/

http://www.ncbi.nlm.nih.gov/Omim/

http://www.hapmap.org

DescriptionProvides data sets froman annotated genomeanalysis and annotationprocess; searches of pro-tein or DNA sequenceagainst metazoangenomes

Access to all CGAP dataand biological resources

A catalog of chromo-somal variants andanomalies

Access to DNA and pro-tein sequences withautomatic baselineannotation

Links to clone and acces-sion maps of the humangenome

Views of chromosomes,maps, and loci; links toother NCBI resources

Java viewers for humangenome data

Catalog of human genesand genetic disorders

A variety of ways toquery for SNPs in thehuman genome



UCSC GenomeBioinformatics

http://genome.cse.ucsc.edu/

Reference sequencefor the human andC. elegans genomesand working drafts forthe mouse, rat, Fugu,Drosophila, C. briggsae,yeast, and SARSgenomes



Health Professional Practice and EducationResourceCentre for Education inMedical Genetics

Centre for GeneticsEducation

Dolan DNA LearningCenter

Foundation for GeneticEducation andCounseling

GenEd Project

Genetics and YourPractice

Genetics in ClinicalPractice: A TeamApproach

Contacthttp://www.bwhct.nhs.uk/genetics-cemg-home.htm

http://www.genetics.com.au/

http://www.dnalc.org/

http://www.fgec.org

http://www.medicine.man.ac.uk/GenEd/

http://www.marchofdimes.com/gyponline/index.bm2

http://iml.dartmouth.edu/education/cme/Genetics/

or

http://www.acmg.net/resources/cd-rom-01/intro.asp

DescriptionDevelops, provides, andevaluates genetics edu-cation opportunities andresources

Education and serviceresources for patientsand professionals

Interactive, multimediagenetics educationresources

Educational resourceson genetics and com-mon diseases, especiallypsychiatric disorders(bipolar disorder andschizophrenia)

Education and researchlinks related to Europeanaspects of geneticservices

Online modules forhealthcare professionalsdesigned for explorationof a topic rather thansequential presentationof material . . . Manyexcellent fact sheets andsample clinical forms

Takes healthcareprovider into a VirtualGenetics Clinic . . .Interactive virtualgenetics clinic with casescenarios and casediscussions . . . Targetaudience is primary careprofessionals



Genetics in Primary Care

Genetics in Psychology

Genetics EducationProgram for Nurses(GEPN) curriculumresources

Genetics: EducationalInformation

Kansas GeneticsEducation Center

National CancerInstitute’s CancerNet

National Coalition forHealth ProfessionalEducation in Genetics(NCHPEG)

http://genes-r-us.uthscsa.edu/resources/genetics/primary_care.htm

http://www.apa.org/science/genetics/homepage.html

http://www.cincinnatichildrens.org/ed/clinical/gpnf/default.htm

http://www.ashg.org/pages/pubs_curriculum.shtml

http://www.kumc.edu/gec/

http://www.cancer.gov/cancerinfo/preventiongenetics-causes

http://nchpeg.org/

Training program cur-riculum materials

American PsychologicalAssociation's geneticssite

Sample genetics nursingcourse syllabi and othergenetics educationalopportunities andresources for nurses, aswell as links to instruc-tional resources used inGSI (Genetics SummerInstitute) andWBGI(Web-based GeneticInstitute)

Medical school coursecompetencies, skills,knowledge, and behav-iors which should becovered in genetics

An ever-growing listof available resources,lesson plans, etc.

Authoritative informa-tion about cancergenetics

Core competencies ingenetics and reviews ofeducation programs . . .Descriptions of availableinstructional resources,courses, institutes . . . Allhave been submitted bydevelopers and somehave accompanyingpeer reviews



Physician’s DatabaseQuery (PDQ®) CancerInformation Summaries

Practice-Based GeneticsCurricula for NurseEducators

Six Weeks to GenomicAwareness

http://www.cancer.gov/cancerinfo/pdq/genetics

http://www.fbr.org/publications/pub_curic.html

http://www.cdc.gov/genomics/training/sixwks.htm

PDQ® cancer informationsummaries in genetics

Bound instructionalmodules with accompa-nying CD or PowerPointpresentations (samplechapter available online)

Webcast of 12 segmentsof genomic topicsfor public healthprofessionals



Internal Review Boards (IRBs)ResourceGenetic Testing andScreening in the Age ofGenomic Medicine. NewYork State Task Force onLife and Law (2001)

Human SubjectsProtection ResourceBook. U.S. Departmentof Energy (2006)

My Very OwnMedicine:What Must I know?Information Policy forPharmacogenetics. PublicHealth Genetics Unit,National Health Service,UK - D. Melzer et al.(2003)

Protecting HumanResearch SubjectsInstitutional Review BoardGuidebook, Chapter H:Human Genetic Research.Office for HumanResearch Protections(1993)

Pharmacogenetics:Ethical Issues. NuffieldCouncil on Bioethics(2003)

Contacthttp://www.health.state.ny.us/nysdoh/taskfce/screening.htm

http://humansubjects.energy.gov/doe-resources/humsubj-resourcebook.htm

http://www.phpc.cam.ac.uk/epg/IPP.html

http://www.hhs.gov/ohrp/irb/irb_chapter5ii.htm#h12

http://www.nuffieldbioethics.org/go/ourwork/pharmacogenetics/publication_314.html

DescriptionIncludes general andstate-specific informa-tion in a bulleted reportthat is relatively easy toscan by topic

Synthesizes the currentinformation on protect-ing human researchsubjects, its applicationto new fields, and theunderlying rules, regula-tions, and guidance . . .Includes chaptersspecific to given typesof research (includinggenetics and gene ther-apy) and specificresearch populations

General information andbackground, lookingahead to future needs,including guidance forIRBs

Discusses many issuesthat continue to chal-lenge IRBs and investiga-tors (and policymakers)today

Includes a section dis-cussing the use ofpharmacogenetics inclinical trials



News Sites Specializing in Genetics and GenomicsResourceGenetics and MolecularMedicine (AmericanMedical Association)

Genome News Network(Center for theAdvancement ofGenomics)

Science News Presentedby BIO, the Bio-technology IndustryOrganization

Contacthttp://www.ama-assn.org/ama/pub/category/1799.html

http://www.genomenewsnetwork.org/

http://science.bio.org/genomics.news.html

DescriptionLinks to current articles,new educational pro-grams and initiatives,and other resources

Original articles andlinks

Links to current articles



Professional Organizations: GeneticsResourceAmerican Board ofGenetic Counseling(ABGC)

American Board ofMedical Genetics(ABMG)

American College ofMedical Genetics(ACMG)

American Society forHuman Genetics (ASHG)

Genetics NursingCredentialingCommission (GNCC)

Genetics Society ofAmerica (GSA)

International Society ofNurses in Genetics(ISONG)

National Society ofGenetic Counselors(NSGC)

Society for the Study ofInborn Errors ofMetabolism (SSIEM)

Contacthttp://www.abgc.net

http://www.abmg.org

http://www.acmg.net/

http://www.ashg.org/

http://www.geneticnurse.org

http://www.genetics-gsa.org

http://www.isong.org/

http://www.nsgc.org/

http://www.ssiem.org/

DescriptionInformation aboutcertification of geneticcounselors

Information aboutmedical genetic trainingprograms and certifica-tion of geneticists

Resources, policy state-ments, and practiceguidelines aboutmedical genetics

Resources, projects, andpolicies concerninghuman genetics

Information about cre-dentialing of geneticsnurses

Links to teaching web-sites, generaleducational courses, andjournals and publica-tions about genetics

Resources to help nursesincorporate new knowl-edge about humangenetics into practice,education, and research

Informationaboutgeneticcounseling: practiceguidelines, links togeneticcounselors, genetic dis-crimination resources

Links to websites andresources about inherit-ed metabolic disorders



Professional Organizations: Nursing PracticeOrganizationAmerican NursesAssociation

American Society ofClinical Oncology

Association of Women’sHealth, Obstetric andNeonatal Nurses

International Society ofNurses in Genetics, Inc.(ISONG)

National Coalition forHealth ProfessionalEducation in Genetics(NCHPEG)

Contacthttp://www.nursingworld.org

http://www.asco.org

http://www.awhonn.org

http://www.isong.org/support/scope.cfm andhttp://www.isong.org/about/position.cfm

http://www.nchpeg.org

DescriptionCode of Ethics for NursesPolicy statements on:• Genetics and nursing• Cloning and therapeuticand reproductiveapplication of genetics• Human cloning: humanrights, discriminationsand privacy andconfidentiality

Policy statement updateGenetic testing for cancersusceptibility

Position statement on therole of the registerednurse as related togenetic testing

Statement on thescope and standardsof genetics/genomicsnursing practice.Policy statements on theroles of nurses and/ornursing in:• Access to genomichealth care• Privacy and confiden-tiality of geneticinformation• Genetic counseling forvulnerable populations• Informed decision-making and consent

Recommendations ofcore competencies ingenetics for all healthprofessionals



Oncology NursingSociety

http://www.ons.org/publications/positions/

Position statements on:• The role of the on-cology nurse incancer geneticcounseling• Cancer predisposi-tion genetic testingand risk assessmentcounseling



Risk AssessmentResourceHarvard Center forCancer Prevention: YourDisease Risk

National Cancer Institute:Breast Cancer RiskAssessment Tool

Contacthttp://www.yourcancerrisk.harvard.edu/

http://bcra.nci.nih.gov/brc/

DescriptionPersonalized estimationof cancer risk and tipsfor prevention

Interactive tool for healthprofessionals to measurea woman's risk of in-vasive breast cancer



Search Engines Specializing in Genetics and GenomicsResourceCenters for DiseaseControl: Genomics andDisease Prevention GDPInfoSearch

Genetics Resources ontheWeb (GROW)

Georgetown University:National InformationResource on Ethics &Human Genetics

National NewbornScreening and GeneticsResource Center: GeneticEducation Materials(GEM) Database

Contacthttp://www.cdc.gov/genomics/

http://www.geneticsresources.org/

http://bioethics.georgetown.edu/nirehg/

http://genes-r-us.uthscsa.edu/

DescriptionProvides access to infor-mation and resources forguiding public healthresearch, policy, andpractice on using geneticinformation to improvehealth and preventdisease. . . Includes corecompetencies for publichealth genetics

Provides health profes-sionals and the publicwith high quality infor-mation related to humangenetics, with a particu-lar focus on geneticmedicine and health

Search engine for litera-ture on specific issuesrelated to ethics andhuman genetics

Search engine for policydocuments and clinicalissues



United States Government AgenciesResourceCenter for DiseaseControl and Prevention:Office of Genomics andDisease Prevention

Department of EnergyOffice of Science(DOEgenomes.org)

Genetic ModificationClinical ResearchInformation System(GeMCRIS®)

Department of Healthand Human Services

Health Resources andServices Administration(HRSA): Genetics ServicesBranch of Maternal andChild Health Bureau

National CancerInstitute's Cancer.gov

National HumanGenome ResearchInstitute

Contacthttp://www.cdc.gov/genomics/

http://www.doegenomes.org/

http://www.gemcris.od.nih.gov/

http://ask.hrsa.gov/detail.cfm?PubID=BHP00177

http://www.mchb.hrsa.gov/

http://www.cancer.gov/cancertopics/prevention-genetics-causes/genetics

http://www.genome.gov

DescriptionInformation abouthuman genetic discover-ies and how to use toimprove health and pre-vent disease, includinglinks to many resources

Multiple genomics edu-cational resources

Access to an array ofinformation abouthuman gene transfertrials registered withthe NIH

Report of the expertpanel on genetics andnursing; includesimplications for educa-tion and practice

To support newbornscreening and increaseknowledge of howgenetic disorders affecthealth

Authoritative informationabout cancer genetics

Research, policy, ethics,education, and traininginformation andresources about geneticand rare diseases



National Institute ofEnvironmental HealthSciences (NIEHS):Environmental GenomeProject

National Institutes ofHealth Obesity Research

National Institutes ofHealth

National Institute ofNursing Research:Summer GeneticsInstitute

Office of Rare Diseases,National Institutes ofHealth

Secretary's AdvisoryCommittee on GeneticTesting

Secretary's AdvisoryCommittee on Genetics,Health, and Society

http://www.niehs.nih.gov/research/supported/programs/egp/

http://obesityresearch.nih.gov/

http://www.nih.gov/

http://www.ninr.nih.gov/Training/TrainingOpportunitiesIntramural/SummerGeneticsInstitute

http://rarediseases.info.nih.gov/

http://www4.od.nih.gov/oba/sacgt/aboutsacgt.htm

http://www4.od.nih.gov/oba/sacghs/reports/reports.html

Project to improveunderstanding ofhuman genetic suscepti-bility to environmentalexposures

Information about NIH-supported research thatseeks to identify genetic,behavioral, and environ-mental causes of obesityand to develop preven-tion and treatmentstrategies

Research, health policy,ethics, education, andtraining information andresources

Summer GeneticsInstitute programdesigned to providetraining in moleculargenetics for use inresearch and clinicalpractice

Information onthousands of rare andgenetic diseases

Public policy issuesregarding genetic testing(archival)

Reports on public policyissues regarding theimpact of genetic tech-nologies on society


ESSENTIALS OF GENETIC AND GENOMIC NURSING:COMPETENCIES, CURRICULA GUIDELINES,AND OUTCOME INDICATORS, 2ND EDITION

Central to contemporary health care is that all diseases and health conditions have some geneticor genomic component. Nursing practice, then, increasingly includes genetics and genomicsalong its pathways of prevention, screening, diagnostics, prognostics, selection of treatment,and monitoring of treatment effectiveness. This monograph succinctly addresses and articulatesthe competencies essential for all nursing practice, as well as the subsequent curricular guide-lines for all nursing education. The outcome indicators are an adjunct to the essential nursingcompetencies and curricula guidelines for genetics and genomics and are intended to define foreach competency the knowledge and practice indicators.Developed by an independent panel of nurse leaders from clinical, research, and academicsettings, this monograph reflects their goal: to establish the minimum basis for preparing thenursing workforce to deliver competent genetic- and genomic-focused nursing care.Whileneither replacing nor recreating existing standards of practice, these essential competenciesdo incorporate the genetic and genomic perspective into all nursing education and practice.Based on the panel’s review of peer-reviewed published work, input from nurse representativesat a stakeholders’meeting in September 2005, and public comment from the nursingcommunity at large, this monograph reflects nursing’s consensus on the minimal amount ofgenetic and genomic competency expected by every registered nurse, regardless of academicpreparation, practice setting, role, or specialty.To supplement its primary content, this monograph also includes a comprehensive selection ofresources that pertain directly to the competencies and guidelines. As a result, Essentials ofGenetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2ndEdition, will prove to be an essential volume for nursing professional development at all levels.

ISBN-13: 978-1-55810-263-7 ISBN-10: 1-55810-263-9Supported by the National Human Genome Research Institute and the Office of Rare Diseases, both of the National Institutes of Health.© 2009 American Nurses Association Published February 2009

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