Essentials of Genetic and Genomic Nursing - American Nurses ...

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 ................................................ 73ivEssentials of Genetic and Genomic Nursing, 2nd Edition

PREAMBLEGenomics is a central science for all nursing practice because essentiallyall diseases and conditions have a genetic or genomic component.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 minimumbasis by which to prepare the nursing workforce to deliver competentgenetic- and genomic-focused nursing care. These competenciesare 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 competencies,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 commentperiods 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 availableat 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) agree with the content, and they support and promoteinitiatives within their own organization to implement the competencies.Preamble 1

CONTRIBUTORS, CONSENSUS PANEL,AND ENDORSING ORGANIZATIONSSteering CommitteeCo-ChairsJean Jenkins, PhD, RN, FAANKathleen Calzone, MSN, RN, APNG,FAANMembersLaurie Badzek, RN, MS, JD, LLMCarolyn Constantin, RNC, PhDAnnette Debisette, DNSc, RN, ANPSuzanne Feetham, PhD, RN, FAANDenise Geolot, PhD, RN, FAANPamela Hagan, MSN, RNMadeleine Hess, PhD, RNDale Lea, MS, RN, MPH, CGC, APNG,FAANJudith Lewis, PhD, RNC, FAANKerry Nesseler, MS, RNKathleen Potempa, DNSc, RN, FAANCynthia Prows, MSN, RNElizabeth Thomson, DNSc, RN, CGC,FAANMelinda Tinkle, PhD, RNJanet Williams, PhD, RN, FAANNational Human GenomeResearch InstituteInternational Society of Nurses inGeneticsNational Cancer InstituteAmerican Nurses AssociationCenters for Disease Control andPreventionHealth Resources and ServicesAdministrationHealth Resources and ServicesAdministrationHealth Resources and ServicesAdministrationAmerican Nurses AssociationHealth Resources and ServicesAdministrationNational Human GenomeResearch InstituteVirginia CommonwealthUniversityHealth Resources and ServicesAdministrationOregon Health and ScienceUniversityCincinnati Children's HospitalMedical CenterNational Human GenomeResearch InstituteNational Institute of NursingResearchUniversity of Iowa2 Essentials of Genetic and Genomic Nursing, 2nd Edition

Moore, Mary KayMott, SandraNesseler, Kerry PaigeOlsen, SharonPicard, CarolPotempa, KathleenProws, Cynthia A.Puetz, Belinda E.Ramirez, Carmen T.Repta, ShirleyRivera, ReynaldoRuhl, CatherineRust, Jo EllenRyan-Kraus, PatriciaScales, RosemarySchiefelbein, JulieanneSchumann, Mary JeanShaver, JoanShinn, Linda J.Thomson, ElizabethTinkle, MelindaValiga, Theresa M.Wicks, Terry C.Williams, CharleneWilliams, Janet K.Yeo, SeonaeDevelopmental Disabilities NursesAssociationSociety of Pediatric NursesDHHS/HRSA/BHPrThe Johns Hopkins University Schoolof Nursing/SREBSigma Theta Tau InternationalOregon Health and Science UniversityChildren's Hospital Medical CenterNational Nursing Staff DevelopmentOrganizationNational Association Hispanic NursesAmerican Psychiatric Nurses AssociationPhilippine Nurses Association of AmericaAssociation of Women's Health,Obstretric and Neonatal Nurses(AWHONN)National Association of Clinical NurseSpecialistsNational Association of Pediatric NursePractitioners (NAPNAP)Pediatric Endocrinology Nursing SocietyThe Academy of Neonatal NursingAmerican Nurses Association (ANA)American Academy of NursingConsensus Management GroupNational Human Genome ResearchInstitute/NIH/ELSI ResearchNational Institute for Nursing Research(NINR)National League for Nursing (NLN)American Association of NurseAnesthetistsAmerican Academy of AmbulatoryCare Nursing (AAACN)University of IowaAsian American/Pacific Islander NursesAssociation4 Essentials of Genetic and Genomic Nursing, 2nd Edition

Endorsing OrganizationsAcademy of Medical-SurgicalNursesAcademy of Neonatal Nurses LLCAmerican Academy of AmbulatoryCare NursingAmerican Academy of NursingAmerican Association of Collegesof NursingAmerican Association ofNeuroscience NursesAmerican Association ofOccupational Health NursesAmerican Nephrology NursesAssociationAmerican Nurses AssociationAmerican Nurses CredentialingCenterAmerican Psychiatric NursesAssociationAmerican Radiological NursesAssociationAmerican Society of PainManagement NursingAmerican Society of Plastic SurgicalNursesAssociation of Pediatric OncologyNursesAssociation of periOperativeRegistered NursesAssociation of Women's Health,Obstetric and Neonatal NursesCouncil of Cardiovascular Nursingof the American HeartAssociationCouncil of International NeonatalNursesDermatology Nurses AssociationDevelopmental Disabilities NursesAssociationGenetic AllianceHospice and Palliative NursesAssociationInternational Society of Nurses inGeneticsMarch of DimesNational Association of ClinicalNurse SpecialistsNational Association of HispanicNursesNational Association of NeonatalNursesNational Association of OrthopedicNursesNational Association of PediatricNurse PractitionersNational Coalition for HealthProfessional Education inGeneticsNational Coalition of EthnicMinority Nurse AssociationsNational Conference ofGerontological NursePractitionersNational Gerontological NursingAssociationNational League for NursingNational League for NursingAccrediting CommissionNational Nursing StaffDevelopment OrganizationNational Organization of NursePractitioner FacultiesContributors, Consensus Panel, and Endorsing Organizations 5

BACKGROUND AND CONTEXT OF THE COMPETENCIESGenetic 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 geneticor genomic component, options for care for all persons will increasinglyinclude 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 practicesetting.The public will increasingly expect that the registered nurse (RN)will use genetic and genomic information and technology when providingcare. 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 variablesthat 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 diseasein young adults.Background and Context of the Competencies 7

• 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. 2The 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 performtasks; in this case, the identification and assessment of geneticand genomic information (e.g., the use of micoarray technologyto 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 Salveson 13reported on a qualitative analysis of published competency recommendations,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 documentsand resources identified fundamental genetic and genomiccompetencies applicable for all registered nurses. A summary of availableresources 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 recommendations,a group of nurse leaders from clinical, research, and academicsettings developed these proposed competencies. The proposed competencieswere 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 documentis described below.• Phase I: The Steering Committee reviewed and provided commentson the preliminary document. This revised draft documentwas 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 Alliance TM , and other nursing organizations. Allcomments were carefully considered and appropriate revisionsincorporated as indicated.• Phase III: A meeting of key stakeholders was held September 21and 22, 2005, to establish consensus on the final competencydocument by key stakeholders. This meeting’s participants (consensuspanel) 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 curricula,the NCLEX examination, specialty certification processes,and accreditation programs.• Phase IV: Endorsement of the final document by all NursingOrganizations Alliance TM member organizations was requestedby March 2006.10 Essentials of Genetic and Genomic Nursing, 2nd Edition

ESSENTIAL COMPETENCIESProfessional ResponsibilitiesAll registered nurses are expected to engage in professional role activitiesthat 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 servicesand/or resources including support groups.• Examine competency of practice on a regular basis, identifyingareas of strength, as well as areas in which professionaldevelopment related to genetics and genomics would bebeneficial.• Incorporate genetic and genomic technologies and informationinto 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 preferredlanguage.• 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 monitoringof treatment effectiveness.• Demonstrates ability to elicit a minimum of threegenerationfamily health history information.Essential Competencies 11

• Constructs a pedigree from collected family history informationusing 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 findingsfor 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 technologiesspecific 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.12 Essentials of Genetic and Genomic Nursing, 2nd Edition

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 currentgenetic 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 informationto 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

ESSENTIAL NURSING COMPETENCIES AND CURRICULAGUIDELINES FOR GENETICS AND GENOMICS:OUTCOME INDICATORSIntroductionThe 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 essentialknowledge elements and suggested practice indicators. To be consistentwith 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 disordersGenomics – 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 standardizedsymbols.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 IndicatorsDomain: Professional ResponsibilitiesRecognize when one’s own attitudes and values related to genetic and genomicscience may affect care provided to clients.Specific Areas of KnowledgeValues, attitudes and beliefs thatinfluence genetic and genomicservices (e.g., views on pregnancytermination).Impact of personal values, attitudesand beliefs on genetic and genomichealth care.Clinical Performance IndicatorsEngage 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 perspectiveabout difficult genetic orgenomic healthcare decisions.Advocate for clients’access to desired genetic/genomic services and/or resourcesincluding support groups.Specific Areas of KnowledgeResources for healthcare professionalsand lay public about: disease susceptibility;genetic/genomic conditions,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.Clinical Performance IndicatorsDemonstrate 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 professionalsin team building and collaborativestrategies 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.16 Essentials of Genetic and Genomic Nursing, 2nd Edition

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.Specific Areas of KnowledgeScope of nursing practice in relationto genetics/genomics.Role of specialist genetic/genomicservices and other agencies in providingcompetent client care.Interprofessional resources that contributeto evidence based care ofclients needing genetic/genomicresources or services.Clinical Performance IndicatorsIdentify 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 nursingcare one provides to clients inneed of genetic/genomic guidance,referral and resources.Take action to meet identified knowledgeand skills deficits related togenetics and genomics.Incorporate genetic and genomic technologies and information into registerednurse practice.Specific Areas of KnowledgeTechnology and information systemsfor clinical care and clinical decisionmakingincluding:• Electronic health and medicalrecords• Client monitoring systems, medicationadministration• Genetic and genomic testing technologies• Other technologies that supportgenetic and genomic based clientcareClinical Performance IndicatorsEvaluate genetic and genomic technologiesused in client care.Demonstrate use of genetic andgenomic technology and client datafor clinical decision-making in providingsafe client care.Identify the credibility, reliability andlimitations of genetic and genomicinformation.Identify ethical, legal, and social issuesassociated with genetic/genomicinformation.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 17

Demonstrate in practice the importance of tailoring genetic and genomic informationand services to clients based on their culture, religion, knowledge level,literacy, and preferred language.Specific Areas of KnowledgeCultural, social, ethnic and religiousperspectives and literacy that mayinfluence client’s access and/or abilityto use genetic and genomic informationand services.Economic and health disparities relatedto genetics and genomics.Clinical Performance IndicatorsIncorporate client’s cultural, social,ethnic and religious perspective andliteracy level when delivering geneticand genomic care.Integrate knowledge from psychology,history, politics, sociology and culturewhen delivering genetic andgenomic care.Advocate for the rights of all clients for autonomous, informed genetic- andgenomic- related decision-making and voluntary action.Specific Areas of KnowledgePotential benefits, risks and limitationsof genetic/genomic testing andaccessing genetic/genomic information.Ethical, legal and social issues surroundingaccess to and use of geneticand genomic information.Impact of genetic and genomic informationon individuals, familymembers, communities and/orpopulations.Components of informed decisionmakingincluding:• Types of information needed• Barriers to making an informeddecision• Autonomous decision-making asappropriateClinical Performance IndicatorsEnsure privacy when discussinggenetic and genomic information.Maintain confidentiality when recordinggenetic and genomic information.Demonstrate awareness of the potentialimpact of genetic/genomic informationon the individual and otherfamily members.Respond appropriately to inquiriesabout genetic and genomic healthcareconcerns.18 Essentials of Genetic and Genomic Nursing, 2nd Edition

Domain: Professional PracticeEssential Competency: Nursing Assessment:Applying/Integrating Genetic and Genomic KnowledgeDemonstrates an understanding of the relationship of genetics and genomics tohealth, prevention, screening, diagnostics, prognostics, selection of treatment,and monitoring of treatment effectiveness.Specific Areas of KnowledgeRelationship of genetics andgenomics to health, prevention,screening, diagnostics, prognostics,selection of treatment, and monitoringof 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 treatmentBasic principles of pharmacogeneticsand pharmacogenomics:• Polymorphisms and drugmetabolism• Selected examples (e.g., Warfarinand CYP polymorphisms)Patterns of disease associated withsingle gene and multifactorialinheritance.Clinical Performance IndicatorsCollect a client’s personal and threegeneration family health history toassess for genomic factors thatimpact the client’s health.Identify potentially significant informationfrom a family history.Identify clients who might benefitfrom referral to genetic specialistsand/or information resources.Facilitate appropriate referral togenetic specialists, accurately documentingand 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 environmentalassessments of health andillness parameters in client, using culturallysensitive approaches.Identify resources available to assistclients seeking genetic and genomicinformation or services including thetypes of services available.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 19

Demonstrates ability to elicit a minimum of three-generation family healthhistory information.Specific Areas of KnowledgeComponents 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 toolsClinical Performance IndicatorsDemonstrate ability to elicit a completethree-generation family healthhistory.Identify available family history toolsto facilitate collection of family healthhistory information.Constructs a pedigree from collected family history information using standardizedsymbols and terminology.Specific Areas of KnowledgeComponents 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 toolsClinical Performance IndicatorsDemonstrate ability to elicit a completethree-generation family healthhistory.Construct a pedigree from collectedfamily history information using standardizedsymbols and terminology.Identify available family history toolsto generate and document a pedigree(e.g., Surgeon General’s FamilyHealth Portrait).20 Essentials of Genetic and Genomic Nursing, 2nd Edition

Collects personal, health, and developmental histories that consider genetic,environmental, and genomic influences and risks.Specific Areas of KnowledgeFundamentals of genetic and genomicfocused health assessment.Basics of risk factors:• Indicators of disease susceptibilityor a genetic condition:• Family history:⇒ Red flags of genetic/genomicconditions 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 lifestylefactors⇒ Social and emotional statusClinical Performance IndicatorsDemonstrate ability to collect personal,medical and family history thatincludes genetic/genomic as well asenvironmental risks.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 21

Conducts comprehensive health and physical assessments which incorporateknowledge about genetic, environmental, and genomic influences and riskfactors.Specific Areas of KnowledgeFundamentals of genetic and genomicfocused health and physicalassessment.Basics of risk factors:• Indicators of disease susceptibilityor a genetic condition:• Family history:⇒ Red flags of genetic/genomicconditions 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 lifestylefactors⇒ Multifactorial influenceClinical Performance IndicatorsIncorporate genetic and genomichealth assessment data into routinelycollected biopsychosocial and environmentalassessments of health andillness parameters in client, using culturallysensitive approaches.22 Essentials of Genetic and Genomic Nursing, 2nd Edition

Critically analyzes the history and physical assessment findings for genetic,environmental, and genomic influences and risk factors.Specific Areas of KnowledgePathophysiological, medical and nursingevaluation of common acute andchronic disease.• Indicators of disease susceptibilityor a genetic condition• Family history:⇒ Red flags of genetic/genomicconditions 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 lifestylefactors⇒ Multifactorial influenceAssessment and diagnosis of acuteand chronic disease including predispositionto disease based ongenetic and genomic risk factors.Clinical Performance IndicatorsIdentify 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 informationon three-generations on bothmaternal and paternal side, whenavailable• Documents key genetic andgenomic assessment informationIdentify components of assessmentdata that contribute to diseaseand/or health risks to establish a planof care.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 23

Assesses clients’ knowledge, perceptions, and responses to genetic and genomicinformation.Specific Areas of KnowledgeCultural, social, ethnic and religious perspectivesmay influence client’s ability touse genetic and genomic information andservices.Social and psychological implications ofaccessing genetic services and information.Ethical and legal issues surroundinggenetic and genomic information andservices.Principles of autonomous decision-makingin genetic counseling.Principles of client genetic/genomic educationand counseling.Clinical Performance IndicatorsDemonstrate 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.24 Essentials of Genetic and Genomic Nursing, 2nd Edition

Develops a plan of care that incorporates genetic and genomic assessmentinformation.Specific Areas of KnowledgeInterprofessional 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 familyClinical Performance IndicatorsDevelop, 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 prematuredeath.Integrate best evidence, clinical judgment,client preferences, and familyimplications in planning genetic andgenomic focused individualized care.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 25

Domain: Professional PracticeEssential Competency: IdentificationIdentifies clients who may benefit from specific genetic and genomic information and/orservices based on assessment data.Specific Areas of KnowledgeComponents 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 toolsInheritance patterns:• Single gene• MultifactorialIndicators of disease susceptibility or agenetic condition:• Family history⇒ Red flags of genetic/genomic conditionssuch as:• disease found primarily in males,• early age of onset for chronic adultonset disease,• multiple cases of rare disease⇒ Confounders:• race and ethnicity• Physical findings• Health history:⇒ Environmental and lifestyle factors⇒ Multifactorial influenceCommon health conditions with a genetic/genomic component to disease susceptibility,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 interventionClinical Performance IndicatorsDemonstrate 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 historythat contribute to: disease susceptibility;disease characteristics, treatment,prognosis; or genetic/genomic condition.Identify clients who may benefit from furtherevaluation of the identified diseasesusceptibility or genetic/genomiccondition.Demonstrate assessment of client concernsor 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 managementinterventions in collaborationwith the client.

Identifies credible, accurate, appropriate, and current genetic and genomicinformation, resources, services, and/or technologies specific to given clients.Specific Areas of KnowledgeResources for healthcare professionalsand lay public about: disease susceptibility;genetic/genomic conditions,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 contributeto evidence based care ofclients needing genetic/genomicresources or services (i.e., EGAPP;AHRQ).Clinical Performance IndicatorsEvaluate 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.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 27

Identifies ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societalissues related to genetic and genomic information and technologies.Specific Areas of KnowledgeCultural, ethnic, family values, traditions,health beliefs and religious perspectivesthat influence access anduse of genetic/genomic informationand services.The components of informeddecision-making including:• Types of information needed• Barriers to making an informeddecisionSources of genetic information.Capabilities and limitations of currentgenetic/genomic technologies.Ethical issues related to genetic/genomic information and technology(such as confidentiality, privacy, disclosure,duty to warn).Psychosocial issues and impact ofgenetic/genomic information on individualand the family (such as emotionaldistress, discrimination).Current state, federal, and militarypolicies that impact genetic/genomicprivacy, health, life, long term careand disability insurance, employment,and other forms of genetic discrimination.Clinical Performance IndicatorsDemonstrate the ability to assess cultural,language, family values, traditions,health beliefs and religious perspectivesthat 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 information,technology and services on individualand the family.Use ethical principles when deliberatinggenetic/genomic issues ofdecision-making, privacy, confidentiality,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.28 Essentials of Genetic and Genomic Nursing, 2nd Edition

Defines issues that undermine the rights of all clients for autonomous, informedgenetic- and genomic-related decision-making and voluntary action.Specific Areas of KnowledgeCurrent state, federal, and militarypolicies that impact genetic/genomicprivacy, health, life, long term careand disability insurance, employmentand other forms of genetic discrimination.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 informationand technology (i.e., children,vulnerable populations, economics).Clinical Performance IndicatorsIdentify respective genetic statelegislation.Identify examples of misuse ofgenetic/genomic information andtechnology.Describe legal and social issues relatedto access and use of genetic informationand technology.Access interprofessional ethicalresources when trying to resolveethical dilemmas.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 29

Domain: Professional PracticeEssential Competency: Referral ActivitiesFacilitates referrals for specialized genetic and genomic services for clients asneeded.Specific Areas of KnowledgeProfessional roles of providers deliveringgenetic and genomic services.Resources for healthcare professionalsand lay public about: disease susceptibility;genetic/genomic conditions,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.Clinical Performance IndicatorsDevelop an interprofessional plan ofcare in collaboration with the clientthat incorporates genetics andgenomics.Uses genetic and genomic indicatorsas rationale for clients who may benefitfrom 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.30 Essentials of Genetic and Genomic Nursing, 2nd Edition

Domain: Professional PracticeEssential Competency: Provision of Education,Care and SupportProvides clients with interpretation of selective genetic and genomic informationor services.Specific Areas of KnowledgeComponents 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 toolsInheritance patterns• Single gene• MultifactorialRole of environmental and psychosocialfactors involved in penetranceof predisposition gene variants.Informed consent procedures andessential elements.Clinical Performance IndicatorsDiscuss 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 providedby genetic professional to client(i.e., genetic test interpretation;informed consent).Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 31

Provides clients with credible, accurate, appropriate, and current genetic andgenomic information, resources, services, and/or technologies that facilitatedecision-making.Specific Areas of KnowledgeResources for healthcare professionalsand lay public about: disease susceptibility;genetic/genomic conditions,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.Clinical Performance IndicatorsEvaluate 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)Specific Areas of KnowledgeRole of environmental and psychosocialfactors involved in penetranceof predisposition gene variants.Fundamentals of epidemiology, biostatistics,(distribution, incidence,prevalence rates, risk factors, healthstatus indicators, and control ofdisease in populations).Ongoing research contributing toimproved understanding of thegenetic/genomic influences onhealth.Clinical Performance IndicatorsIncorporate genetic and genomichealth assessment data into routinelycollected biopsychosocial and environmentalassessments of health andillness parameters in client, using culturallysensitive approaches.Use evaluation results to influencedelivery of care and deployment ofresources to promote health and preventdisease.

Uses genetic- and genomic-based interventions and information to improveclients’ outcomes.Specific Areas of KnowledgePharmacogenetics, pharmacogenomics.Gene or gene product targeted therapy(e.g., HER2 and Herceptin BCR/ABLand imatinib).Protein replacement therapy(e.g., enzyme therapy for lysosomaldiseases).Chaperone therapy.Clinical Performance IndicatorsDemonstrate ability to incorporatefamily history as part of the nursingassessment.• Document family history informationon three-generations on bothmaternal and paternal side, whenavailable• Documents key genetic andgenomic assessment information• Uses genetic and genomic indicatorsas rationale for clients whomay benefit from further evaluationor other risk managementinterventions• Incorporate into the interprofessionalplan of care the need for furthergenetic/genomic evaluation orother risk management interventionsin collaboration with the clientMonitor client response to genetic/genomic based interventions.Intervene when client has an unintendedresponse to genetic/genomic based interventions toensure client safety.Collaborates with healthcare providers in providing genetic and genomic healthcare.Specific Areas of KnowledgeRoles of genetic/genomic healthcareprofessionals.Roles of other specialists in whichgenetic/genomic information andtechnology are integral to their caredelivery.Clinical Performance IndicatorsUse interprofessional communicationand collaboration skills to deliver safe,evidence-based, client-centered care.Demonstrate team building and collaborativestrategies 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.Specific Areas of KnowledgeDeterminants 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 benefitInfluence of predisposition genevariants, genetic disease/disorder onaccess to health, life, disability, longterm care insurances and militarybenefits.Clinical Performance IndicatorsIdentify 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).34 Essentials of Genetic and Genomic Nursing, 2nd Edition

Performs interventions/treatments appropriate to clients’ genetic and genomichealthcare needs.Specific Areas of KnowledgePharmacogenetics, pharmacogenomicsGene or gene product 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 endoplasmicreticulum of a cell).Clinical Performance IndicatorsAdminister 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 unintendedresponse 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, information,interventions, and treatments on clients’ outcome.Specific Areas of KnowledgeRange of psychosocial responses togenetic and/or genomic test results,genetic diagnosis and prognosis.Expected outcomes of various genetic/genomic based interventions.Clinical Performance IndicatorsAssess 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 interventionsto modify client’s plan of care.Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 35

IMPLEMENTATION STRATEGIESPractice and curriculum change requires the commitment of nursingleaders and academic faculty to develop a long-term plan to incorporategenetic and genomic information in order to improve the public’shealth. Faculty and practicing nurses must be supported by their institutionsto attend continuing education or academic courses to updatetheir genetic and genomic knowledge. Collaboration with other disciplinesis 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 documentare 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 organizationsto incorporate genetics and genomics practice contenton 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

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 associatedwith faculty training initiatives addressing this need (includingsummer institutes and a web-based program 26, 27, 28 ) have also beendescribed.Implementation Strategies 39

REFERENCES CITED IN TEXTAll 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.htm5. 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.cfm6. 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., and Williams,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 evidencebasedqualitative analysis identifying fundamental undergraduatenursing 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):80–84.42 Essentials of Genetic and Genomic Nursing, 2nd Edition

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., and Williams, 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., and Warren, 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

APPENDIX ARESOURCES TO SUPPORT THE GENETICSAND GENOMICS COMPETENCIESThis 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, andLegislationFamily 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 AgenciesAll 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 MonographsResourcePublisherClinical Genetics inNursing Practice, 3rd ed.(2005)By Felissa R. LashleySpringer PublishingCompany, Inc.DescriptionNursing and genetics textGenetics in Nursing(2004)Editors: SuzanneFeetham and JanetWilliamsGenetics in OncologyPractice: Cancer RiskAssessment (2003)Editors Amy StraussTranin, Agnes Masny,and Jean JenkinsThe Genetics Revolution:Implications for Nurses(1997)Editor: Felissa LashleyApplied Genetics inHealthcare (2005)By Heather Skirton,Christine Patch, andJanet WilliamsInternational Council ofNurseshttp://www.icn.ch/bookshop.htmOncology NursingSociety PressAmerican Academy ofNursingBIOS Scientific Publishers(New York; Abingdon[England]: Taylor andFrancis Group)Monograph to providedirection for nursing leadershipin genetics in global,scientific, practice, education,social, information,ethical and politicalcontexts.A detailed overview ofgenetics and the implicationsfor cancer nursingpractice.The first nursing monographto 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 practicenurses46 Essentials of Genetic and Genomic Nursing, 2nd Edition

Nursing Care in theGenomic Era: A Case-Based Approach (2005)By Jean F. Jenkins andDale Halsey LeaGenetics in ClinicalPractice: New Directionsfor Nursing and HealthCare (1998)By Dale Halsey Lea, JeanF. Jenkins, and Clair A.FrancomanoGenetic NursingPortfolios: A New Modelfor the Profession (2005)Editor: Rita BlackMonsonGenetics/GenomicsNursing: Scope andStandards of Practice.(2006) by InternationalSociety of Nurses inGenetics, Inc. (ISONG)and American NursesAssociationGenetics and thePerinatal and Women’sHealth Nurse (2001)By Judith LewisJones and BartlettPublishersJones and BartlettPublishersAmerican NursesAssociation(Nursesbooks.org)American NursesAssociation and ISONG(Nursesbooks.org)Association of Women'sHealth, Obstetric andNeonatal Nurses(AWHONN)Provides nurses with upto-dateand accessibleinformation on core competenciesin genetics,interwoven with storiesthat highlight a particularcondition and the relatedbiological, personal, andpsychosocial issues.Provides a unique, understandableapproach tothe emerging science ofgenetics.Describes the developmentof the GNCC credentialingprogram. Thebook shows how toassemble and use a portfolioto verify competencyin a specialty.Scope and standards ofpractice for nurses ingeneticsThis practice monographprovides nurses with thebasic information theyneed to provide patientswith accurate informationabout geneticscreening and testing.Appendix A—Resources to Support Genetics and Genomics Competencies 47

Genetic Issues forPerinatal Nurses (2003)By Janet Williams andDale Halsey LeaEditor: Rita ReisWieczorekThe Nursing Clinics ofNorth America: ClinicalGenetics (2000). Editors:Sharon Olsen, LynnBaxendale-Cox, andVictoria MockCancer Care: A Guide forOncology Nurses (2002)By Dale Halsey Lea,Kathleen Calzone, AgnesMasny, and AnnetteParry BushIndividuals, Families andthe New Era of Genetics(2006) by S, Miller, S.McDaniel, J. Rolland, andS. FeethamMarch of Dimes BirthDefects FoundationEducation ServicesDepartmentW.B. Saunders CompanyOncology NursingSociety PressW.W. Norton & Co. Inc.A nursing continuingeducation program thatpresents an update ofgenetics, principles ofinheritance and ethicalprinciples. Provides informationon 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 competentin cancer genetics.Keeping the individualand family in focus duringthe era of genetics.48 Essentials of Genetic and Genomic Nursing, 2nd Edition

Career Development: Continuing EducationResourceContactDescriptionAmerican Society ofClinical OncologyASCO Bookstore1900 Duke Street,Suite 200Alexandria, VA 22314(703) 299-0150http://www.asco.orgCancer 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.Cincinnati Children’sHospital Medical CenterCity of Hope NationalMedical Center andBeckman ResearchInstitute3333 Burnet AvenueCincinnati, Ohio 45229-3039(513) 636-4200http://www.cincinnatichildrens.org/ed/clinical/gpnf1500 E. Duarte RoadDuarte, CA 91010-3000(800) 423-7119http://www.infosci.coh.org/ccgp/ic/course09.aspxGenetics EducationProgram for Nurses: Web-Based Genetics Instituteand Genetics Program forNursing FacultyIntensive Course inCancer Risk AssessmentFoundation for BloodResearchFox Chase Cancer Center8 Nonesuch RoadP.O. Box 190Scarborough ME 04070-0190(207) 883-4131http://www.fbr.org/publications/pub_curic.html333 Cottman AvenuePhiladelphia, PA 19111-2497(215) 728-2892 or1-888-369-2427http://www.fccc.edu/healthProfessionals/continuingNursingPractice-based GeneticsCurriculum For NurseEducators (sample chapteravailable online)A Basic Course in CancerGenetics: Familial CancerRisk AssessmentAn Advanced Course forNurses in Genetic CancerRisk CounselingAppendix A—Resources to Support Genetics and Genomics Competencies 49

International Society ofNurses in Genetics, Inc.(ISONG)National Institute ofNursing Research (NINR)Education/index.html461 Cochran RoadBox 246Pittsburgh, PA 15228412-344-1414http://www.isong.org/E-mail:isongHQ@msn.comSummer GeneticsInstituteDivision of IntramuralResearchNINRNational Institutes ofHealth31 Center Drive, 5B-13Bethesda, MD 20892-2178(202) 255-6922http://www.ninr.nih.gov/Training/TrainingOpportunitiesIntramural/SummerGeneticsInstitute/Annual Nursing andGenetic EducationMeetingGenetics/GenomicsNursing: Scope andStandards of Practice(2006)Summer GeneticsInstitute programdesigned to providetraining in moleculargenetics for use inresearch and clinicalpracticeOncology NursingSociety (ONS)125 Enterprise DriveRIDC Park WestPittsburgh, PA 15275-1214(866) 257-4ONSEmail: customer.service@ONS.orghttp://www.ons.org/ceCentral/prevention/Genetics Short Course forCancer Nurses50 Essentials of Genetic and Genomic Nursing, 2nd Edition

Career Development: Post-Graduate ProgramsOrganization ContactProgram/ResourcesColumbia UniversityColumbia UniversitySchool of Nursing617 West 168th StreetNew York, NY 10032(212) 305-6761http://www.cumc.columbia.edu/dept/nursing/programs/cg.htmlMaster’s degree programwith a clinical geneticssub-specialtyUniversity of IowaUniversity of PittsburghUniversity 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.htmUniversity 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.htmlMaster’s and PhD degreeprograms in GeneticsNursingPost-BaccalaureateCertificate in GeneticsPost-Master’s Certificatein Health Care GeneticsAppendix A—Resources to Support Genetics and Genomics Competencies 51

University of California,San FranciscoUniversity ofWashingtonUniversity 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.htmUniversity of WashingtonSchool of NursingBox 357260Seattle, WA 98195(206) 221-2458http://www.son.washington.edu/eo/apgnMaster’s and doctoraldegree programs inGenomicsMaster’s degree programwith a minor ingenetics nursing(advanced practicegenetics nursing)52 Essentials of Genetic and Genomic Nursing, 2nd Edition

Clinical GeneticsResourceGeneTestsHuman GenomeEpidemiology Network(HuGENet)INFOGENETICS©National Birth DefectsPrevention NetworkNational NewbornScreening & GeneticsResource CenterOnline MendelianInheritance in Man(OMIM)Contacthttp://www.genetests.org/http://www.cdc.gov/genomics/hugenet/default.htmhttp://www.infogenetics.org/http://www.nbdpn.orghttp://genes-r-us.uthscsa.edu/http://www.ncbi.nlm.nih.gov/omim/DescriptionInformation for healthprofessionals about hundredsof genetic testsand the laboratories performingthose testsNetwork for sharingpopulation-basedhuman genome epidemiologicinformationClinical practice toolsNetwork of resources forsurveillance, research,and prevention of birthdefects careInformation andresources nationallyavailable on newbornscreening and geneticsCatalog of human genesand genetic disordersAppendix A—Resources to Support Genetics and Genomics Competencies 53

Consumer/Client: General InformationResourceContactDescriptionFamily History CancerRisk Assessment:James Linkhttp://jamesline.com/patientsandvisitors/prevention/cancergenetics/Information on collectingfamily health historyand assessing cancer riskThe DNA FilesDolan DNA LearningCenterhttp://www.dnafiles.org/http://www.dnalc.org/A series of 14 one-hourpublic radio documentariesand related information(10 more tocome out in 2006)A variety of educationalresources, including aninteractive DNA timelineEthics and GeneticTesting for Nurseshttps://www.continuetolearn.uiowa.edu/ecomm/ccp/10Expand.asp?ProductCode=096cegeneticCD-ROM modules onethics, ethics of genetictesting, and case studiesFoundations of ClassicalGeneticsGenetic Science LearningCenterGenetics and RareDiseases InformationCenterhttp://www.esp.org/foundations/genetics/classicalhttp://learn.genetics.utah.eduhttp://www.genome.gov/10000409Complete versions ofclassic genetics workswritten between 350B.C. and 1965Basic genetics, geneticdisorders, genetics insociety, and several thematicunitsInformation service forthe general public,including patients andtheir families, as well ashealthcare professionalsand biomedicalresearchersGenetics EducationCenterhttp://www.kumc.edu/gec/ Material for educators54 Essentials of Genetic and Genomic Nursing, 2nd Edition

Genetics HomeReference—NationalLibrary of MedicineThe Human GenomeProject: Exploring OurMolecular SelvesMendelWebNational Society ofGenetic Counselors—Your Family HistoryThe New Genetics: AResource for Studentsand TeachersUnderstanding 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.cfmhttp://www4.umdnj.edu/camlbweb/teachgen.htmlhttp://www.cancer.gov/cancertopics/UnderstandingCancer/genetestinghttp://geneticalliance.org/understanding.geneticsConsumer informationabout genetic conditionsand the genesresponsible for thoseconditionsDownload modules andonline viewing aboutHuman Genome Project,timeline about genetics,talking glossary, classroomactivities, 3-D animationof cellMendel's papers inEnglish (with annotations)and German andrelated materialsInformation on collectingfamily health historyLinks to genetic educationresourcesPrimer on genetic testingA guide for patients andprofessionalsAppendix A—Resources to Support Genetics and Genomics Competencies 55

Consumer/Client: Support and Advocacy GroupsResourceContactDescriptionCoalition for GeneticFairnesshttp://www.geneticfairness.org/Advocacy group for federallegislation regardinggenetics discriminationFamily VillageGenetic AllianceNational Organizationfor Rare Disorders(NORD)http://www.familyvillage.wisc.edu/index.htmlxhttp://www.geneticalliance.org/http://www.rarediseases.org/Disability-relatedresourcesWide array of geneticrelatedinformationRare diseases databaseand index of organizations56 Essentials of Genetic and Genomic Nursing, 2nd Edition

ELSI (Ethical, Legal, and Social Implications),Policy, and LegislationResourceContactDescriptionAmerican Academy ofPediatrics: Ethical IssuesWith Genetic Testing inPediatricshttp://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/6/1451.pdfRecommendations onnewborn screeningand genetic testingin childrenBioethics Resources onthe Web(NIH)bioethics.netCouncil for ResponsibleGeneticsDNA Patent DatabaseEthical, Legal, and SocialIssues (from the HumanGenome Project)Genethics.caGenetics and the Law(from CRG—Council forResponsible Genetics)http://www.nih.gov/sigs/bioethics/http://www.bioethics.net/genetics/genetics.phphttp://www.genewatch.org/http://dnapatents.georgetown.eduhttp://www.ornl.gov/hgmis/elsi/elsi.htmlhttp://www.Genethics.ca/http://www.genelaw.info/Links to bioethicsresourcesLinks to articles onbioethics and geneticsInformation on thesocial, ethical, and environmentalimplicationsof genetic technologiesSearchable database ofU.S. DNA-based patentsissued by the U.S. Patentand Trademark OfficeInformation, articles, andlinks on a wide range ofissuesInformation on thesocial, ethical, and policyissues associated withgenetic and genomicknowledge andtechnologyA searchable onlineclearinghouse of informationon emerginglegal developments inhuman geneticsAppendix A—Resources to Support Genetics and Genomics Competencies 57

The Genetics and PublicPolicy CenterGenome Technologyand Reproduction:Values and Public Policyand The Communities ofColor and GeneticsPolicy ProjectHumGenNational InformationResource on Ethics andHuman GeneticsNCSL (NationalConference of StateLegislatures) GeneticTechnologies ProjectThe President's Councilon BioethicsScope Note Series(Kennedy Institute ofEthics/GeorgetownUniversity)THOMAS LegislativeInformation (fromLibrary of Congress)http://www.dnapolicy.orghttp://www.sph.umich.edu/genpolicy/http://www.humgen.umontreal.ca/en/http://bioethics.georgetown.edu/nirehg/http://www.ncsl.org/programs/health/genetics.htmhttp://www.bioethics.gov/http://bioethics.georgetown.edu/publications/scopenotes/http://thomas.loc.gov/Information on publicpolicy related to humangenetic technologies forthe public, media, andpolicymakersTwo subprojects combinedto form a five-yearproject designed to providepolicy recommendationsbased on publicperceptions andresponses to the explosionof genetic informationand technology.Access to a comprehensiveinternational databaseon the legal, social,and ethical aspects ofhuman geneticsLinks to resources anddatabases on ethics andhuman geneticsStatus of legislativeactions and access topolicy briefs on geneticissues of concern tostate legislatorsInformation on currentbioethical issuesAnnotated bibliographieson various aspectsof genetics and ethicsSearchable database ofU.S. legislation (currentand previous)58 Essentials of Genetic and Genomic Nursing, 2nd Edition

Family History ToolsResourceContactAmerican MedicalAssociation: FamilyHistory Toolshttp://www.ama-assn.org/ama/pub/category/2380.htmlDescriptionTools for gatheringfamily history and linksto resourcesCenters for DiseaseControl and PreventionCyrillicPedigree-DrawProgenyU.S. Surgeon General’sFamily History Initiative:“My Family HealthPortrait”http://www.cdc.gov/genomics/fhix.htmhttp://www.cyrillicsoftware.comhttp://www.pedigree-draw.comhttp://www.progenygenetics.comhttp://www.hhs.gov/familyhistory/Family history resourcesand toolsPedigree drawingsoftware for geneticcounselors and clinicians;links to genetic sitesPedigree drawing softwarefor MacintoshGenetic data managementand pedigreedrawing softwarePatient-completedpedigree drawingsoftware60 Essentials of Genetic and Genomic Nursing, 2nd Edition

Genome ResearchResourceContactBLAST Search (part ofEnsembl; see below)http://www.ensembl.org/Multi/blastviewDescriptionProvides data sets froman annotated genomeanalysis and annotationprocess; searches of proteinor DNA sequenceagainst metazoangenomesThe Cancer GenomeAnatomy ProjectChromosomal Variationin ManEnsembl(Joint software projectbetween the EuropeanBioinformatics Instituteand the Sanger Institute)Genome SequencingCenter: Human genomemapsNational Center forBiotechnologyInformation: GenomicBiologyOak Ridge GenomeChannelOnline MendelianInheritance in Man(OMIM)The SNP (SingleNucleotidePolymorphisms)Consortiumhttp://cgap.nci.nih.govhttp://www.wiley.com/legacy/products/subject/life/borgaonkar/http://www.Ensembl.org/index.htmlhttp://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.orgAccess to all CGAP dataand biological resourcesA catalog of chromosomalvariants andanomaliesAccess to DNA and proteinsequences withautomatic baselineannotationLinks to clone and accessionmaps of the humangenomeViews of chromosomes,maps, and loci; links toother NCBI resourcesJava viewers for humangenome dataCatalog of human genesand genetic disordersA variety of ways toquery for SNPs in thehuman genomeAppendix A—Resources to Support Genetics and Genomics Competencies 61

UCSC GenomeBioinformaticshttp://genome.cse.ucsc.edu/Reference sequencefor the human andC. elegans genomesand working drafts forthe mouse, rat, Fugu,Drosophila, C. briggsae,yeast, and SARSgenomes62 Essentials of Genetic and Genomic Nursing, 2nd Edition

Health Professional Practice and EducationResourceContactDescriptionCentre for Education inMedical Geneticshttp://www.bwhct.nhs.uk/genetics-cemg-home.htmDevelops, provides, andevaluates genetics educationopportunities andresourcesCentre for GeneticsEducationDolan DNA LearningCenterFoundation for GeneticEducation andCounselingGenEd ProjectGenetics and YourPracticeGenetics in ClinicalPractice: A TeamApproachhttp://www.genetics.com.au/http://www.dnalc.org/http://www.fgec.orghttp://www.medicine.man.ac.uk/GenEd/http://www.marchofdimes.com/gyponline/index.bm2http://iml.dartmouth.edu/education/cme/Genetics/orhttp://www.acmg.net/resources/cd-rom-01/intro.aspEducation and serviceresources for patientsand professionalsInteractive, multimediagenetics educationresourcesEducational resourceson genetics and commondiseases, especiallypsychiatric disorders(bipolar disorder andschizophrenia)Education and researchlinks related to Europeanaspects of geneticservicesOnline modules forhealthcare professionalsdesigned for explorationof a topic rather thansequential presentationof material . . . Manyexcellent fact sheets andsample clinical formsTakes healthcareprovider into a VirtualGenetics Clinic . . .Interactive virtualgenetics clinic with casescenarios and casediscussions . . . Targetaudience is primary careprofessionalsAppendix A—Resources to Support Genetics and Genomics Competencies 63

Genetics in Primary CareGenetics in PsychologyGenetics EducationProgram for Nurses(GEPN) curriculumresourcesGenetics: EducationalInformationKansas GeneticsEducation CenterNational CancerInstitute’s CancerNetNational Coalition forHealth ProfessionalEducation in Genetics(NCHPEG)http://genes-r-us.uthscsa.edu/resources/genetics/primary_care.htmhttp://www.apa.org/science/genetics/homepage.htmlhttp://www.cincinnatichildrens.org/ed/clinical/gpnf/default.htmhttp://www.ashg.org/pages/pubs_curriculum.shtmlhttp://www.kumc.edu/gec/http://www.cancer.gov/cancerinfo/preventiongenetics-causeshttp://nchpeg.org/Training program curriculummaterialsAmerican PsychologicalAssociation's geneticssiteSample genetics nursingcourse syllabi and othergenetics educationalopportunities andresources for nurses, aswell as links to instructionalresources used inGSI (Genetics SummerInstitute) and WBGI(Web-based GeneticInstitute)Medical school coursecompetencies, skills,knowledge, and behaviorswhich should becovered in geneticsAn ever-growing listof available resources,lesson plans, etc.Authoritative informationabout cancergeneticsCore competencies ingenetics and reviews ofeducation programs . . .Descriptions of availableinstructional resources,courses, institutes . . . Allhave been submitted bydevelopers and somehave accompanyingpeer reviews64 Essentials of Genetic and Genomic Nursing, 2nd Edition

Physician’s DatabaseQuery (PDQ®) CancerInformation SummariesPractice-Based GeneticsCurricula for NurseEducatorsSix Weeks to GenomicAwarenesshttp://www.cancer.gov/cancerinfo/pdq/geneticshttp://www.fbr.org/publications/pub_curic.htmlhttp://www.cdc.gov/genomics/training/sixwks.htmPDQ® cancer informationsummaries in geneticsBound instructionalmodules with accompanyingCD or PowerPointpresentations (samplechapter available online)Webcast of 12 segmentsof genomic topicsfor public healthprofessionalsAppendix A—Resources to Support Genetics and Genomics Competencies 65

Internal Review Boards (IRBs)ResourceContactGenetic Testing andScreening in the Age ofGenomic Medicine. NewYork State Task Force onLife and Law (2001)http://www.health.state.ny.us/nysdoh/taskfce/screening.htmDescriptionIncludes general andstate-specific informationin a bulleted reportthat is relatively easy toscan by topicHuman SubjectsProtection ResourceBook. U.S. Departmentof Energy (2006)My Very Own Medicine: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)http://humansubjects.energy.gov/doeresources/humsubjresourcebook.htmhttp://www.phpc.cam.ac.uk/epg/IPP.htmlhttp://www.hhs.gov/ohrp/irb/irb_chapter5ii.htm#h12http://www.nuffieldbioethics.org/go/ourwork/pharmacogenetics/publication_314.htmlSynthesizes the currentinformation on protectinghuman researchsubjects, its applicationto new fields, and theunderlying rules, regulations,and guidance . . .Includes chaptersspecific to given typesof research (includinggenetics and gene therapy)and specificresearch populationsGeneral information andbackground, lookingahead to future needs,including guidance forIRBsDiscusses many issuesthat continue to challengeIRBs and investigators(and policymakers)todayIncludes a section discussingthe use ofpharmacogenetics inclinical trials66 Essentials of Genetic and Genomic Nursing, 2nd Edition

News Sites Specializing in Genetics and GenomicsResourceContactDescriptionGenetics and MolecularMedicine (AmericanMedical Association)http://www.ama-assn.org/ama/pub/category/1799.htmlLinks to current articles,new educational programsand initiatives,and other resourcesGenome News Network(Center for theAdvancement ofGenomics)Science News Presentedby BIO, the BiotechnologyIndustryOrganizationhttp://www.genomenewsnetwork.org/http://science.bio.org/genomics.news.htmlOriginal articles andlinksLinks to current articlesAppendix A—Resources to Support Genetics and Genomics Competencies 67

Professional Organizations: GeneticsResourceContactDescriptionAmerican Board ofGenetic Counseling(ABGC)http://www.abgc.netInformation aboutcertification of geneticcounselorsAmerican 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)http://www.abmg.orghttp://www.acmg.net/http://www.ashg.org/http://www.geneticnurse.orghttp://www.geneticsgsa.orghttp://www.isong.org/http://www.nsgc.org/http://www.ssiem.org/Information aboutmedical genetic trainingprograms and certificationof geneticistsResources, policy statements,and practiceguidelines aboutmedical geneticsResources, projects, andpolicies concerninghuman geneticsInformation about credentialingof geneticsnursesLinks to teaching websites,generaleducational courses, andjournals and publicationsabout geneticsResources to help nursesincorporate new knowledgeabout humangenetics into practice,education, and researchInformation about geneticcounseling: practiceguidelines, links to geneticcounselors, genetic discriminationresourcesLinks to websites andresources about inheritedmetabolic disorders68 Essentials of Genetic and Genomic Nursing, 2nd Edition

Professional Organizations: Nursing PracticeOrganization ContactDescriptionAmerican NursesAssociationhttp://www.nursingworld.orgCode of Ethics for NursesPolicy statements on:• Genetics and nursing• Cloning and therapeuticand reproductiveapplication of genetics• Human cloning: humanrights, discriminationsand privacy andconfidentialityAmerican Society ofClinical OncologyAssociation of Women’sHealth, Obstetric andNeonatal NursesInternational Society ofNurses in Genetics, Inc.(ISONG)National Coalition forHealth ProfessionalEducation in Genetics(NCHPEG)http://www.asco.orghttp://www.awhonn.orghttp://www.isong.org/support/scope.cfm andhttp://www.isong.org/about/position.cfmhttp://www.nchpeg.orgPolicy statement updateGenetic testing for cancersusceptibilityPosition statement on therole of the registerednurse as related togenetic testingStatement on thescope and standardsof genetics/genomicsnursing practice.Policy statements on theroles of nurses and/ornursing in:• Access to genomichealth care• Privacy and confidentialityof geneticinformation• Genetic counseling forvulnerable populations• Informed decisionmakingand consentRecommendations ofcore competencies ingenetics for all healthprofessionalsAppendix A—Resources to Support Genetics and Genomics Competencies 69

Oncology NursingSocietyhttp://www.ons.org/publications/positions/Position statements on:• The role of the oncologynurse incancer geneticcounseling• Cancer predispositiongenetic testingand risk assessmentcounseling70 Essentials of Genetic and Genomic Nursing, 2nd Edition

Risk AssessmentResourceHarvard Center forCancer Prevention: YourDisease RiskNational Cancer Institute:Breast Cancer RiskAssessment ToolContacthttp://www.yourcancerrisk.harvard.edu/http://bcra.nci.nih.gov/brc/DescriptionPersonalized estimationof cancer risk and tipsfor preventionInteractive tool for healthprofessionals to measurea woman's risk of invasivebreast cancerAppendix A—Resources to Support Genetics and Genomics Competencies 71

Search Engines Specializing in Genetics and GenomicsResourceContactDescriptionCenters for DiseaseControl: Genomics andDisease Prevention GDPInfoSearchhttp://www.cdc.gov/genomics/Provides access to informationand resources forguiding public healthresearch, policy, andpractice on using geneticinformation to improvehealth and preventdisease. . . Includes corecompetencies for publichealth geneticsGenetics Resources onthe Web (GROW)Georgetown University:National InformationResource on Ethics &Human GeneticsNational NewbornScreening and GeneticsResource Center: GeneticEducation Materials(GEM) Databasehttp://www.geneticsresources.org/http://bioethics.georgetown.edu/nirehg/http://genes-r-us.uthscsa.edu/Provides health professionalsand the publicwith high quality informationrelated to humangenetics, with a particularfocus on geneticmedicine and healthSearch engine for literatureon specific issuesrelated to ethics andhuman geneticsSearch engine for policydocuments and clinicalissues72 Essentials of Genetic and Genomic Nursing, 2nd Edition

United States Government AgenciesResourceContactDescriptionCenter for DiseaseControl and Prevention:Office of Genomics andDisease Preventionhttp://www.cdc.gov/genomics/Information abouthuman genetic discoveriesand how to use toimprove health and preventdisease, includinglinks to many resourcesDepartment of EnergyOffice of Science(DOEgenomes.org)Genetic ModificationClinical ResearchInformation System(GeMCRIS®)Department of Healthand Human ServicesHealth Resources andServices Administration(HRSA): Genetics ServicesBranch of Maternal andChild Health BureauNational CancerInstitute's Cancer.govNational HumanGenome ResearchInstitutehttp://www.doegenomes.org/http://www.gemcris.od.nih.gov/http://ask.hrsa.gov/detail.cfm?PubID=BHP00177http://www.mchb.hrsa.gov/http://www.cancer.gov/cancertopics/prevention-geneticscauses/geneticshttp://www.genome.govMultiple genomics educationalresourcesAccess to an array ofinformation abouthuman gene transfertrials registered withthe NIHReport of the expertpanel on genetics andnursing; includesimplications for educationand practiceTo support newbornscreening and increaseknowledge of howgenetic disorders affecthealthAuthoritative informationabout cancer geneticsResearch, policy, ethics,education, and traininginformation andresources about geneticand rare diseasesAppendix A—Resources to Support Genetics and Genomics Competencies 73

National Institute ofEnvironmental HealthSciences (NIEHS):Environmental GenomeProjectNational Institutes ofHealth Obesity ResearchNational Institutes ofHealthNational Institute ofNursing Research:Summer GeneticsInstituteOffice of Rare Diseases,National Institutes ofHealthSecretary's AdvisoryCommittee on GeneticTestingSecretary's AdvisoryCommittee on Genetics,Health, and Societyhttp://www.niehs.nih.gov/research/supported/programs/egp/http://obesityresearch.nih.gov/http://www.nih.gov/http://www.ninr.nih.gov/Training/TrainingOpportunitiesIntramural/SummerGeneticsInstitutehttp://rarediseases.info.nih.gov/http://www4.od.nih.gov/oba/sacgt/aboutsacgt.htmhttp://www4.od.nih.gov/oba/sacghs/reports/reports.htmlProject to improveunderstanding ofhuman genetic susceptibilityto environmentalexposuresInformation about NIHsupportedresearch thatseeks to identify genetic,behavioral, and environmentalcauses of obesityand to develop preventionand treatmentstrategiesResearch, health policy,ethics, education, andtraining information andresourcesSummer GeneticsInstitute programdesigned to providetraining in moleculargenetics for use inresearch and clinicalpracticeInformation onthousands of rare andgenetic diseasesPublic policy issuesregarding genetic testing(archival)Reports on public policyissues regarding theimpact of genetic technologieson society74 Essentials of Genetic and Genomic Nursing, 2nd Edition

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