Genetics-Genomics Competencies and Nursing Regulation

GENETICS AND GENOMICS SERIES

Genetics-Genomics Competencies and Nursing RegulationMaggie Kirk, PhD, BSc (Hons), DipN, RGN1, Kathleen Calzone, MSN, RN, APNG, FAAN2,Naoko Arimori, PhD, RN, RMW, PHN3, & Emma Tonkin, PhD, BSc (Hons)4

1Upsilon Xiat large, Professor of Genetics Education, NHS National Genetics Education & Development Centre, University of Glamorgan, Wales2Xi, Senior Nurse Specialist (Research, NCI/CCR/Genetics Branch, Bethesda, MD, USA3Associate Professor of Women’s Health & Midwifery, St. Luke’s College of Nursing, Tokyo, Japan4 Education Development Officer, NHS National Genetics Education & Development Centre, University of Glamorgan, Wales

Key wordsGenetics, genomics, competence, regulation,

nexus, nursing education, nursing licensure

CorrespondenceProf. Maggie Kirk, NHS National Genetics

Education & Development Centre, Faculty of

Health, Sport and Science, University of

Glamorgan, Pontypridd, CF37 1DL, Wales.

E-mail: [email protected]

Accepted January 1, 2011

doi: 10.1111/j.1547-5069.2011.01388.x

Abstract

Purpose: The aim of this article is to explore the interaction between the in-tegration of genetics-genomics competencies into nursing curricula and reg-ulatory standards. By taking a global perspective of activity in this field, weaim to develop a framework that can inform strategic planning in relation tointernational genetics-genomics and nursing education.Methods: We focus our exploration around a small-scale international surveyon the progress, achievements, and critical success factors of 10 countries inrelation to the integration of genetics-genomics into nursing education, withexemplars from three of those countries.Findings: Analysis of the data generated 10 themes, each with several sub-themes that play a critical role in the development of genetics-genomics innursing education and practice. The themes were organized into three over-arching themes: nursing in genetics, genetics in nursing, and recognition andsupport. Genetics-genomics competence is not fully integrated into nursing ed-ucation at an appropriate level in any country, nor was it reflected robustly incurrent standards for registration and licensure.Conclusion: Strong leadership from the specialist genetics community playsa critical role in defining genetics-genomics competence but the engagementof nursing professionals at senior levels in both government and regulatoryinstitutions is essential if nurses are to be active participants in the innovationsoffered by genomic healthcare.Clinical Relevance: Safe and effective nursing practice must incorporate theneeds of those with, at risk for, or susceptible to genetic-genomic conditions, aswell as those who might benefit from the application of genomic technologiesin the diagnosis and management of common conditions such as cancer andheart disease. The scope of such practice can be articulated though competencestatements. Professional regulation defines the standard of competence thatpracticing nurses should demonstrate at initial registration and licensure.

Regulation of the nursing profession, encompassing thekey pillars of governance, discipline, and education, isfundamental to the identity, structure, and type of ser-vices a nurse can offer (International Council of Nurses[ICN], http://www.icn.ch/pillarsprograms/regulation/).Registration, incorporating licensure, is an importantaspect of regulation and provides the route of entry to

the profession. The ICN states that since the need fornursing services is universal and the same wherever it isdelivered, the principles that govern nursing educationand practice should be the same in every country.Affara (2005) reaffirmed the importance of regulationin 21st century nursing and contended that nurses, asexperts in their field, can influence their contribution to

Journal of Nursing Scholarship, 2011; 43:2, 107–116. 107No claim to original US government works

Genetics-Genomics and Nurse Regulation Kirk et al.

global health care through setting universal standards ofexcellence in education and practice. However, in theircomparative analysis of the key regulatory dimensionsover 172 jurisdictions worldwide, Morrison and Benton(2010) reported that while regional similarities maybe apparent, many contrasts are also revealed. Theyconcluded that the equivalence of role, education, orpractice standards cannot be assumed from the title ofregistered nurse. A more focused approach in a system-atic documentary evaluation of five Western countries inrelation to regulation found no single uniform system ofroutes of entry to the profession, nor consensus on anoptimal model for initial training (Fealy et al., 2009).

Competence is a core component of registration, bothin terms of establishing agreement on what constitutescompetence to practice and in ensuring that nurses whoare licensed to practice are able to demonstrate the de-fined level of competence (Pearson, 2005). The rela-tionship between the establishment of competence state-ments and regulation is thus an important one, evenmore so when we consider the dynamic field of genetics-genomics and its current and future impact on healthcare in the 21st century. If nurses are to deliver safe,quality care, they need to be able to demonstrate compe-tence in genetics-genomics as it applies to their practicespecialty. In this fast-moving area of health care, whichshould come first– agreement on the level of competenceto be demonstrated or a regulatory standard that requirescompetence in genetics-genomics? Is the identificationand agreement on competence statements a driving force(driver) for their inclusion in regulation standards?

In this paper we aim to explore the relationship be-tween the development of competence statements andrequirements for regulatory compliance to identify therelevant knowledge and skills in genetics-genomics. Wewill outline the findings from a small-scale internationalsurvey about progress in integrating genetics-genomicsinto nursing practice and education, to provide thebroader context for three exemplars from the UnitedStates, Japan, and the United Kingdom. We shall out-line some of the drivers and detractors to the develop-ment of competence statements in genetics-genomics andtheir recognition within national regulatory frameworks.Finally, we present a model that describes the interfacesbetween genetics-genomics and nursing: the genetics-genomics and nursing nexus.

Global Perspectives of Progresson Genetics-genomics in Nursing

Kirk, Lea, and Skirton (2008) found that the issuesaround the utilization of genetics-genomics in clinicalpractice are common across several countries. A conve-

nience sample (N = 77) of members of the InternationalSociety of Nurses in Genetics (ISONG) identified the in-effective presentation of genetics-genomics as a majorbarrier in making clear its relevance to nursing practice.The authors drew attention to the value of competenceframeworks in helping to address this, through informingprofessional development and appropriate standards forcare, citing the U.K. and U.S. genetics-genomics compe-tence statements as examples (Jenkins & Calzone, 2007;Kirk, McDonald, Longley, & Anstey, 2003). In order toexplore the potential influence of competence statementsfurther, in June 2009 we conducted a small scale survey.

Survey Aims

Our aim was to gain a perspective from genetics nurseleaders across several countries. We sought informationand views on the progress, facilitators, and barriers to em-bedding genetic-genomics in nursing education and prac-tice, in order to identify common critical success factors.

Approach

One to two nurse leaders from each of the 12 countriesrepresented in the 2009 ISONG membership list, selectedon the basis of authority according to position and/orpublication record (n = 19), were contacted by e-mailand invited to respond to a short survey. Additional re-sponses were sought via a closed international e-mail net-work of genetics professionals (the Community GeneticsNetwork). Respondents were encouraged to discuss theirresponses to 10 questions with colleagues prior to submit-ting by e-mail directly to the first author, or online via adedicated web link if they wished to remain anonymous.Consent was deemed to have been given if the participantactively responded to the survey. Ethics approval for thesurvey was granted by the University of Glamorgan.

We used open questions to ask about current progressand significant achievements in genetics-genomics andnursing in their country within the last 3 years, the driv-ing forces behind these, the next three steps that neededto be taken and the likely time scales for these, the or-ganizations that would need to be engaged to facilitatetheir achievement, and significant barriers to success. Fi-nally, participants were asked to comment on the statusof genetics-genomics in relation to current professionalregulatory requirements. Free text responses were col-lated, subjected to thematic analysis, coded, and hand-sorted by manuscript authors.

Results

We received 13 responses from 10 countries. Resultsfrom countries where there were two responses were

108

Kirk et al. Genetics-Genomics and Nurse Regulation

Table 1. Survey Items Generatedon Perspectives on Progress in Integrating Genetics-Genomics Into Nursing

Timescale Drivers: Who could

Country Significant achievements Next steps (years) make a difference

Italy Competencies defined

Development of SGN role

Development of SGN training programme

Critical mass formed

Education support for SGN role

Further development of critical mass

Raise awareness of SGN role with

policy-makers

1–10 Patient organizations,

regional

governments,

genetics specialists

UK Competencies defined

Support for education

Government policy & funding support

Education support in the practice setting for

qualified nurses (also to act as mentors)

Incorporate skills assessment into standards

National Steering Group for education

1–3 Professional &

regulatory bodies,

education

providers,

healthcare

commissioners

Pakistan Curriculum presence

Increased public awareness

Clinical impact evident

Increased content in nursing curricula

Support for education

Support from policy-makers

1–3 Government,

regulatory body

The Nether-lands Education support in practice

Curriculum presence


Further develop genetics education

Increase awareness of role of nurses in

genetics

Increasing application of genomic medicine in

public health

1–10 Government, public

health services,

primary care

doctors

Brazil Development of genetics services

Increased awareness of SGN role

Professional Society established

Competencies defined

Education (to raise awareness)

Education content kept up to date

3–5 Professional

organizations,

education providers

USA Competencies defined

Competencies inform accreditation

Funding support for nursing research

Building the evidence base

Demonstration of competence within

regulatory requirements

Building nursing research

2–3 Other accrediting

bodies

Oman Increase in professional awareness

Critical mass of enthusiasts

Government support for research

Curriculum presence

Specialist service development

Involving clinical staff in education

1–2 Government, college

of medicine

Japan Professional society self-sustaining


Inclusion of genetics in professional standards

Specialist role consolidated via formal

qualification

Integration of genetics into basic training

Increase professional awareness

3–5 Professional society

South Africa Curriculum presence

Development of specific content for primary

care nurses

Increased professional awareness

Increased genetic content across all nursing

curricula

Introduction of a formal qualification for

genetics nurses

Continuing professional development (CPD)

that includes genetics for all nurses

1–5 Regulatory body,

education leads

Israel Development of “genetic information nurse”

role

Introduction of SGN role to genetics clinics

Curriculum presence

Advanced education

Integration of genetics into the nursing role

Recognition of expertise of SGN

1–10 Lead nurse in

government

department

Note. For the purposes of this table, ‘genetics’ refers to genetics-genomics.

SGN = specialist genetics nurse (including those nurses who might be designated as genetic counselors).

merged as in each case responses were in agreement.Genetics competence is not included within the regu-latory standards of six countries and is explicit in onlyone country, although this is defined as “only at the ba-sic level.” The items generated in response to “significantachievements” and “next steps” are presented along withthe time scale and potential drivers identified (Table 1).The items were coded to 10 themes, each with a num-

ber of subthemes; these are discussed later. The specialistprofessionals themselves were cited most often as maindrivers to the achievements, either through individualinitiatives or as part of a professional society. The valueof the “public voice” was evident, along with politicaldrivers such as key policy and funding support. Progressitself was seen as a change agent, for example, throughthe drive to enhance quality in healthcare, through the

109


increasing application of genomic medicine in healthcare,or as a result of the processes involved in the devel-opment of competence statements. In contrast, govern-ment and regulatory bodies were most often cited as or-ganizations that could make a significant contribution toprogress but had not yet done so.

Genetics-genomics competence was not felt to be fullyintegrated into nursing education at an appropriate levelin any country. The significant barriers to progress infully integrating genetics-genomics into nursing educa-tion could be grouped into five categories: (a) deficits inawareness and knowledge among educators and practi-tioners (including those at senior levels) result in a lackof professional engagement in genetics-genomics; (b) lackof awareness at government and regulatory body levels;(c) limitations in resources included time, funding, avail-ability of appropriate education resources, and capacityto deliver genetics-genomics education; (d) lack of at-tention paid to the “patient voice;” and (e) lack of out-come evidence, compounded by the limited integrationof genetics-genomics into practice.

Limitations

The intention of this small-scale survey was to seekthe views of nurse leaders active in developing genetics-genomics practice; as such, it is their subjective perspec-tives that have been captured. Although common themeshave emerged, the sample is not representative of allnurses practicing in the genetics specialty.

Establishing CompetenceStandards– Exemplars

To provide a context for the responses from the sur-vey, we present the profiles of each of the countries rep-resented (Table 2). Building on the work of Robinsonand Griffiths (2007), these profiles outline key features ofpreregistration nurse training and information about thestatus of genetics services, genetics nursing, and geneticsnursing societies. Exemplars from three of these coun-tries review progress made in developing competencein genetics-genomics for nurses working in the specialty

Table 2. Key Features of Preregistration Nurse Training and Status of Genetics-Genomics and Nursing Across 10 Countries

GeneticsFirst level nurse: training to registration

Specialist Specialist Genetics

Levels Sector in which Length General/ genetics genetics nursing

Country of nursea training takes place (years) Qualification specialist service nurse role society

Brazil 2 HE Nursing college 4 Degree General Yes Yes Yes

University

Israel 2 FE Hospital-based school 3 Diploma General Yes No No

HE University 4 Degree

Italy 1 HE University 3 Degree General Yes Yes No

Japan 2 HE University 4 Degree General Yes Yes Yes

Nursing college 3 Ass. degree

School of nursing 3 Diploma

Netherlands 2 HE School of nursing 4 Degree General Yes Yes Yes

Oman 2 FE School of nursing 3 Diploma General Yes No No


Pakistan 2 FE Hospital-based school 3 Diploma General No No No

HE University 3 Diploma

4 Degree

South Africa 2 FE Nursing college 4 Diploma General/ Yes but Limited. No

Hospital/clinic specialist limited Not specifically

School of nursing specialist for nurses


UK 1 HE University 3 Diploma/degree Branch Yes Yes Yes

United States 2 HE University 4 Degree General Yes Yes Yes

Community college 2 Ass. degree

School of nursing 3 Diploma

aCountries may offer one or two levels of nurse training programs. Where two are offered, second-level nurses (sometimes called nurse assistants or

licensed practical nurses) may be able to upgrade to the first level with further training.

HE = higher education; FE = further education.

Developed from Robinson and Griffiths (2007).

110


(nursing in genetics) and for all other nurses who workoutside the specialty (genetics-genomics in nursing).

United States

The United States has 3,063,163 licensed registerednurses, prepared with a diploma (13.9%), associate(36.1%), baccalaureate (36.8%), or any advanced de-gree (13.2%; U.S. Department of Health and HumanServices, 2010). Regardless of academic training, thecommon measure of knowledge, skills, and abilitiesessential for safe and effective entry-level nursing practiceis passage of the National Council Licensure Examination(NCLEX), a prerequisite for licensure to practice (NationalCouncil of State Boards of Nursing, 2010). Specialty cre-dentialing is handled with certification examinations orportfolios, as are advanced practice specialty credentialsin addition to an advanced academic degree.

The American Nurses Association (ANA), representingthe entire U.S. nursing discipline, develops and main-tains scopes and standards of nursing practice for boththe generalist, advanced practice, and 28 nursing special-ties. Standards are authoritative, evaluable statements forwhich nurses are held accountable (ANA, 2010). Individ-ual state nurse practice acts further refine these to spec-ify the state’s legal scope and standards for practice. Thesubspecialty of genetic nursing consists of licensed nurseswith specialty education and training in genetics and ge-nomics with the scope and standards of practice definedby ISONG (2007). They are specific to the subspecialtyand do not reflect nurses integrating genetics-genomicsinto routine practice. ISONG serves as the specialty’s pro-fessional society in the United States.

Specialty genetic services are staffed by nurses, physi-cians, or genetic counselors. Traditionally, services havefocused on providing consultations for persons with dys-morphology, congenital, or single gene disorders. Overthe past 10 years there has been considerable expansionin the laboratory, diagnostic, counseling, and case man-agement and treatment services for a growing number ofconditions, including adult-onset disorders such as cancerand cardiovascular diseases.

Translation of genetics-genomics into general healthcare is actively occurring. Risk identification and testingservices are increasingly provided in oncology and pri-mary care settings, for example. Genetic-genomic infor-mation and technologies are part of cancer screening,prognosis, and treatment services delivered by oncologyphysicians and nurses.

In light of evidence that U.S. nurses have a lim-ited genetics-genomics knowledge (Harvey et al., 2007)and the implications for all nurses, two National Insti-tutes of Health Institutes (government) partnered to es-

tablish the Genetic-Genomic Nursing Competency Ini-tiative (GGNCI). Outputs from GGNCI included con-sensus development of the Essentials of Genetic and Ge-nomics Nursing: Competencies, Curricula Guidelines, and Out-come Indicators (Jenkins & Calzone, 2007). The compe-tencies apply to the entire nursing workforce irrespectiveof academic preparation, role, practice environment, orspecialty.

A 5-year strategic plan focusing on practicing nurses,regulation, academics, and infrastructure has guided thecompetencies implementation. Projects from each pri-ority have been implemented: (a) integrate genetics-genomics into academic entry-level academic nurs-ing accreditation standards, (b) define competency-specific outcome indicators, (c) establish a faculty re-source toolkit, and (d) develop an instrument to mea-sure nursing genetic-genomic competency and practiceintegration.

Each effort has been linked. Input by the GGNCI andcompetency consensus nursing community resulted inintegration of genetics-genomics into the American As-sociation of Colleges of Nursing Baccalaureate Essen-tials (American Association of Colleges of Nursing, 2008).These essentials form the basis for the Commission onCollegiate Nursing Education baccalaureate accredita-tion standards motivating faculty to integrate genetics-genomics into their curricula. Hence, faculty neededgenetic-genomic education resources, provided by theGGNCI toolkit project, the Genetic-Genomic CompetencyCenter for Education (G2C2; http://www.g-2-c-2.com).G2C2 maps peer-reviewed resources to competencies,specific areas of knowledge, and performance indicators.Lastly, a survey instrument was developed, pilot tested,then utilized to conduct a U.S. nursing workforce studyexamining genomic competency to inform education ini-tiatives and track effectiveness (Calzone, Jenkins, Yates,Cusack, & McBride, 2008).

Japan

In Japan, nursing graduates are eligible to sit for a na-tional examination that leads to registration as a nurse,nurse-midwife, or public health nurse. Genetics is in-cluded within this examination; however, it is not a com-pulsory component within nursing curricula at any edu-cational institution. In addition, genetics is currently notconsidered a component of general nursing care. For ex-ample, a nurse would not be expected to perform a ge-netic family history assessment while providing respira-tory care to an individual with muscular dystrophy orwhile caring for someone with a potentially inheritedform of breast cancer.

111


As proposed in the World Health Organization (1998)guidelines, specialist genetic services within Japan areorganized at all levels of medical care and delivered bymultidisciplinary teams, which include nurses. The roleof the nurse in delivery of these services varies accordingto local (institutional) need. In most cases, nurses whohave received specialist genetics-related training (geneticnurses) will support the clients through decision-makingprocesses and provide ongoing care for families diagnosedwith a genetic condition.

Genetics counseling is delivered through the overlap-ping roles of doctors, nurses, and genetic counselors andrequires specialist (advanced-level) training. While thereis no formal regulatory body akin to the U.K. GeneticCounsellor Registration Board (detailed below), those in-volved in the service are often members of the JapanSociety of Human Genetics or the Japanese Society ofGenetic Counselling (JSGC). Training to become a rec-ognized genetic counselor, available to both medical andnonmedical graduates (including those with psychologyand sociology backgrounds), is provided by graduateschools, with final certification by the JSGC.

Nursing competencies for delivery of genetic-genomichealth care have been defined through a consensus pro-cess with those working in specialist genetics services andencompass basic (required of all nurses) and advancedlevels (required of genetic nurses; Arimori et al., 2007).These guidelines are promoted by the Japanese Societyof Genetic Nursing for clinical and research use. Require-ments for the advanced role have been defined at work-shops with various societies, and two graduate schools arecurrently working toward establishing genetic nursing asa recognized field alongside other related subspecialties(such as cancer and pediatric nursing), and for certifica-tion as a certified nurse specialist (CNS) with the JapanNursing Association.

United Kingdom

Formal nurse training was established in the UnitedKingdom in 1860, but professional regulation was not in-troduced until 1919, when parliament passed the NursesRegistration Act (http://www.nmc-uk.org). Today, theNursing and Midwifery Council (NMC) is responsiblefor professional regulation, with over 660,000 qualifiednurses and midwives on its register. Nurses must achievethe NMC standards of proficiency in the context of prac-tice in one of four branches (adult, mental health, learn-ing disabilities, or children’s nursing). These mandatorystandards define the overarching principles underpinningnursing practice, the context in which they are achieved,and the scope of professional practice (NMC, 2010). Theserecently revised standards now require nurses to take ac-count of genetic factors alongside others in conducting a

comprehensive nursing assessment, but there is no fur-ther elaboration on this.

Despite the lack of recognition for genetics-genomicsas part of safe and effective practice within the cur-rent NMC standards, the role of nurses within special-ist genetics services is well established. The first ge-netics clinics were established in the 1940s (Skirton,Arimori, & Aoki, 2006). Today genetics services are or-ganized via 27 regional clinical genetics centers, serv-ing populations of 3 to 5 million. They operate as partof the publicly funded National Health Service (NHS)and each offers a range of diagnostic, laboratory, andcounseling services for people and families with, at riskfor, or susceptible to a genetic condition. Nurses wereestablished as members of the multiprofessional spe-cialist teams in the 1970s. Initially engaged to sup-port the medical team, they became increasingly au-tonomous, with roles involving direct client contact,education, research, and psychotherapeutic counseling.In 1979 they formed a professional society, renamed theAssociation of Genetic Nurses and Counsellors (AGNC)in 1994, today with over 300 members. The role of ge-netic counselor and standards of competence have beendefined by the AGNC (Skirton et al., 1998). Registrationwas established in 2001, available to qualified nurses andmidwives, or graduates with a master’s degree in geneticcounseling, by submission of a portfolio to the GeneticsCounselling Registration Board.

Competencies in genetics were developed for all nursesand midwives in 2003, in recognition of the inadequaciesof genetics education provision in nurse training (Kirket al., 2003). Seven competence statements accompaniedby learning outcomes and practice indicators were estab-lished through a national consensus process. These setout the minimum standards that should be demonstratedby nurses at the point of registration. Although the NMCendorsed the framework, they remain as guidelines only.AGNC members played an important role in leading thiswork, contributing to the development of the education-based competence framework and to its dissemination.

The competence statements have been used to informthe development of core competencies for nurses in Eu-rope (Skirton, Lewis, Kent, & Coviello, 2010). Althoughused to guide U.K. nursing curricula, they are not yetfully implemented (Kirk & Tonkin, 2006). Following con-sensus review in 2010, the statements have been revisedand an additional statement has been included (NHS Na-tional Genetics Education & Development Centre, 2010).

A strong political drive undoubtedly has helped thedevelopment and gradual adoption of the competenceframework. The genetics White Paper and its subsequentreview (Department of Health, 2003, 2008) highlightedhealth professional education as a key priority, providing

112


troppus & noitingoceR .C gnisruN ni sciteneG .B sciteneG ni gnisruN .A

4. Genetics embedded in nurse education

• Curriculum presence • Integrated into basic training • Increased content across all curricula • Competence defined • Competencies inform accreditation • Competencies part of regulatory standards

5. Education provision

• Support for education • Development of resources • Education provision at advanced level

6. Education in practice settings

• Education support in practice (for mentors) • Education developed in the practice setting • Genetics staff involved in education • CPD includes genetics for all nurses

1. Development of specialist role:

• Development of genetics services • Development of SGN role • Increased awareness of SGN role • SGN role formally recognized or

regulated

2. Specialist training

• Development of training programmes • SGN role consolidated by formal training • Recognition of formal qualification • Education support provided for SGN role

3. Social capital

• Local enthusiasts identified • Critical mass formed • Professional society established • Professional society self-sustaining

7. Role development & clinical impact

• Increasing application of genomic medicine in public health

• Clinical impact evident • Integration of genetics in nursing role • Building the evidence base • Building the evidence base for nursing

8. Engagement of policy makers

• Raised awareness of genetics • Support via policy documents • Support via funding • Support for research & education • Support for nursing research &

education

9. Public engagement

• Education to raise awareness • Increased public awareness • Formation of patient organisations • Patient organisations empowered to

influence policy

10. Professional engagement

• Education to raise awareness • Nurse leaders in policy, practice,

education and regulation recognise the relevance of genetics

Figure. Trajectories for the development of genetics-genomics in nursing education and practice The 10 themes are grouped under the three over-

arching themes. Each theme has several sub-themes.

Note. For the purposes of this table, “genetics” refers to genetics-genomics. Italic entries indicate critical trigger points in each theme.

SGN = specialist genetics nurse (including those nurses who might be designated as genetic counselors); CPD = continuing professional development.

funding to establish the NHS National Genetics Education& Development Centre to lead and coordinate this. The“public voice” of Genetic Alliance UK also plays a key rolein raising awareness of the needs of individuals and fam-ilies affected by genetics, campaigning to influence policyand care provision (http://www.geneticalliance.org.uk).

Factors Influencing CompetenceStandards and Regulation

The stories told in the survey responses and exemplarsindicate similar trajectories toward a regulatory standardthat incorporates competence in genetics-genomics, al-beit at different paces. Some countries that are close toachieving the incorporation of genetics-genomics com-petencies into regulation standards demonstrate featuresthat other countries aspire to achieve. These factors re-late to the status of genetics services within health careand the subsequent establishment of the specialist genet-ics nurse role. This, along with formation of the special-ist professional community as a recognized body, appearsto be a critical factor associated with the integration ofgenetics-genomics into other nursing specialties. Recog-nition and support from policymakers, the public, andother professionals are another critical factor.

The interrelationship between genetics-genomics andnursing may be conceptualized as a nexus, where eachquadrant reflects a connection between these two pa-

rameters (Figure). Ideally, nursing would be locatedin both upper quadrants (A and B), where the exper-tise of the specialist genetics nurse is formally recog-nized alongside nurses in other specialties who are com-petent in genetics-genomics to a safe and appropriatestandard. Applying this to the three exemplar coun-tries, the United States has met quadrant A and is ac-tively transitioning into quadrant B as competencies havebeen established for genetics-genomics but are inconsis-tently integrated into scopes and standards of practice ex-cept for specialty services. Progress barriers include in-adequate funding limiting GGNCI staff, resources, andprojects.

Japan is within quadrants A and moving toward B.Genetics education for the nursing professions is stillnot well established, and the opportunities to practiceas a genetic nurse are limited. Defining the indepen-dent and collaborative characteristics of the nursing rolewithin multidisciplinary teams delivering genetic healthcare, and clarifying the roles and boundaries of geneticcounselors and genetic nurses, are important next stepsin moving forward the genetics-genomics agenda. Thefuture challenges for Japan are (a) to propose that ge-netic nursing be incorporated as an essential require-ment in the national examination for nurses, and (b)to work with the regulatory framework to ensure thatthe role of genetic nurses is appropriately recognized andarticulated.

113


Table 3. Trajectories for the Development of Genetics-Genomics in Nursing Education and Practice

Competencestandards

determined at national level

Emphasis on genetics

as a specialist

practice

Competence statements

determined at local level

Emphasis on genetics

as part of generalist

practice

The lone enthusiast’s

role

The specialist

genetics nurse roleEveryone’s role

No-one’s role

Note. For the purposes of this diagram, ‘genetics’ refers to genetics/genomics.

A nexus describes a series of connections, in this instance, between genetics/genomics and nursing, at the interfaces with specialist and generalist

practice, and competence standards.

A: Genetics standards for specialist nursing are agreed and articulated.

Role within a clinical service is defined.

Specialist genetics professional association is established.

B: Role of genetics within all other fields of practice is acknowledged via national regulatory standards.

A specialist genetics component within other specialties may be defined and specialist interest groups may be established (e.g., cancer genetics

nurses).

C: Role of nursing in genetics services may be identified but there are no agreed national standards.

Uptake and interpretation of the role is dependent on local interest and enthusiasm.

D: Role of genetics in nursing practice has not been identified or is inconsistent and subject to local interest, interpretation and priorities.

The 10 themes are grouped under the three over-arching themes. Each theme has several subthemes.

The United Kingdom has made steady progress andcould be placed in quadrants A and moving toward B.The new NMC standards (NMC, 2010) may make somecontribution to progress toward quadrant B through theirreference to genetics in the context of nursing assess-ment. That there has not been explicit reference untilnow has compromised progress.

The nexus could be applied to locate the other sevencountries. Pakistan and Oman are within quadrants C andD. Israel and South Africa are also located in C and D,with some evidence of transition toward A and B. BothItaly and Brazil appear to be consolidating their locationwithin A, and the Netherlands is in a position similar tothat of the United Kingdom, United States, and Japan.

We propose that the nexus may provide a useful ap-proach to articulating the current status of genetics-genomics and nursing within a professional jurisdiction.A further conceptualization of the themes and subthemesthat emerged from the survey, in the context of the ex-

emplars, may provide a framework for progression be-tween quadrants in this nexus.

Toward a Framework for Development

The 10 themes identified from the data were furthercategorized under three overarching themes: nursing ingenetics (i.e., nurses who work in the subspecialty of ge-netics); genetics in nursing (i.e., nurses who incorporategenetics-genomics into routine practice); and recogni-tion and support. Within this framework, the subthemeswere hand sorted by one author and verified by a sec-ond, to reflect the trajectories indicated by the survey re-sponses and exemplars (Table 3). These trajectories fol-low the transitions from adoption, through early imple-mentation, to persistence as evidence is translated andembedded into practice (Tansella & Thornicroft, 2009).Transition may occur within and across the overarch-ing themes of nursing in genetics and genetics within

114


nursing, the former influencing the latter. Transitionswithin a theme may also occur in tandem with otherthemes. Recognition and support may act synergisticallyto influence the transitions within the overarching themeand across other themes. This overarching theme indi-cates the importance of key stakeholders in successfulimplementation of an innovation (Kitson, 2009). Criti-cal trigger points in each theme (shown in italics) are alsopostulated as catalysts, reflecting the importance of thespecialist nursing role, education, and nursing regulationin influencing progress in the advancement of genetichealthcare.

The framework reflects the complexities of an inno-vation process and outlines a wider context to considerthe interactions between people (policymakers, profes-sional, and public), policy, and practice. We suggest thatthe framework may inform a strategy for the persistenceof genetics-genomics in nursing practice, recognizing therole of regulation in promoting safe and effective carethrough competent practice.

Conclusions

The challenges to producing a “genetically-genomicallycompetent” nursing workforce remain significant at na-tional and international levels. Strong leadership and aninternational community of practice play critical roles inthe articulation of competencies, but the engagement ofnursing professionals at senior levels in both governmentand regulatory bodies is essential if nurses are to be ac-tive participants in the innovations offered by advancesin genomic healthcare.

Acknowledgments

The NHS National Genetics Education & DevelopmentCentre is funded by the Department of Health. NaokoArimori is supported by a Grant-in-Aid for Scientific Re-search (A) No. 12307059 from the Japan Society forthe Promotion of Science. The U.S. Genetic-GenomicNursing Competency Initiative is supported by the Na-tional Institutes of Health, National Human Genome Re-search Institute, The Office of Policy, Communicationsand Education (OPCE), Genomic Healthcare Branch; Na-tional Cancer Institute, Center for Cancer Research, Ge-netics Branch; and the Office of Rare Disease; as wellas in-kind support from the American Nurses Associa-tion and the American Association of Colleges of Nurs-ing. Thanks to Dr. Juping Yu for her help in com-piling Table 2 and to those who participated in thesurvey.

Clinical Resources� A website that links U.K. nursing competencies

in genetics to patient and professional stories:http://www.tellingstories.nhs.uk

� A repository of educational materials on genetics-genomics: http://www.g-2-c-2.com

References

Affara, F. (2005). Valuing professional self-regulation. Journal

of Advanced Nursing, 52(6), 579.

American Association of Colleges of Nursing. (2008). The

essentials of baccalaureate education for professional nursing

practice. Retrieved from http://www.aacn.nche.edu/

Education/pdf/BaccEssentials08.pdf

American Nurses Association. (2010). Nursing standards.

Retrieved from http://nursingworld.org/MainMenu

Categories/ThePracticeofProfessionalNursing/Nursing

Standards.aspx

Arimori, N., Nakagomi S., Mizoguchi M., Morita M., Ando H.,

Mori A., . . . Holzemer W. (2007). Competencies in genetic

nursing in Japan: A comparison between basic and

advanced levels. Journal of Japan Academy of Nursing Science,

4(1), 45–55.

Calzone, K., Jenkins, J., Yates, J., Cusack, G., & McBride, C.

(2008). Evaluation of the integration of genetics and

genomics into nursing practice. Paper presented at the

Oncology Nursing Society Annual Congress, May 15–18,

Philadelphia, PA.

Department of Health. (2003). Our inheritance, our future.

Realising the potential of genetics in the NHS. London: The

Stationery Office.

Department of Health. (2008). Our inheritance, our future.

Realising the potential of genetics in the NHS. Progress review.

London: The Stationery Office.

Fealy, G. M., Carney, M., Drennan, J., Treacy, M., Burke, J.,

O’Connell, D., . . . Sheerin, F. (2009). Models of initial

training and pathways to registration: A selective review of

policy in professional regulation. Journal of Nursing

Management, 17, 730–738.

Harvey, E. K., Fogel, C. E., Peyrot, M., Christensen, K. D.,

Terry, S. F., & McInerney, J. D. (2007). Providers’

knowledge of genetics: A survey of 5915 individuals and

families with genetic conditions. Genetics in Medicine, 9(5),

259–267.

International Society of Nurses in Genetics. (2007).

Genetics-genomics nursing: Scope and standards of practice. Silver

Spring, MD: Nursebooks.org, The Publishing Program of

American Nurses Association.

Jenkins, J., & Calzone, K. A. (2007). Establishing the essential

nursing competencies for genetics and genomics. Journal of

Nursing Scholarship, 39, 10–16.

115


Kirk, M., Lea, D., & Skirton, H. (2008). Genomic health care:

Is the future now? Nursing and Health Sciences, 10,

85–92.

Kirk, M., McDonald, K., Longley, M., & Anstey, S. (2003). Fit

for practice in the genetics era: A competence based education

framework for nurses, midwives and health visitors. Pontypridd,

UK: University of Glamorgan.

Kirk, M., & Tonkin, E. (2006). Genetics education for nursing

professional groups: Survey of practice and needs of UK educators

in delivering a genetics competence framework. Birmingham,

UK: NHS National Genetics Education & Development

Centre.

Kitson, A. (2009). The need for systems change: Reflections

on knowledge translation and organizational change.

Journal of Advanced Nursing, 65(1), 217–228.

Morrison, A., & Benton, D. (2010). Analyzing nursing

regulation worldwide. Journal of Nursing Regulation, 1,

44–47.

National Council of State Boards of Nursing. (2010). 2010

NCLEX R© examination candidate bulletin. Retrieved from

https://www.ncsbn.org/2010 NCLEX Candidate

Bulletin.pdf

NHS National Genetics Education and Development Centre.

(2010). Fit for practice in the genetics-genomics era: A revised

competence based framework for nurse education. Retrieved

from http://tiny.cc/FFPGGENursingPrelimReport

Nursing & Midwifery Council. (2010). Standards of

proficiency for pre-registration nursing education. London:

Author.

Pearson, A. (2005). Registration, regulation and competence

in nursing. International Journal of Nursing Practice, 11(5),

191–192.

Robinson, S., & Griffiths, P. (2007). Nursing education and

regulation: International profiles and perspectives. London:

National Nursing Research Unit.

Skirton, H., Arimori, N., & Aoki, M. (2006). A historical

comparison of the development of specialist genetic

nursing in the United Kingdom and Japan. Nursing and

Health Sciences, 8(4), 231–236.

Skirton, H., Barnes, C., Guilbert, P., Kershaw, A.,

Kerzin-Storrar, L., Patch, C., . . . Walford-Moore, J. (1998).

Recommendations for education and training of genetic

nurses and counsellors in the United Kingdom. Journal of

Medical Genetics, 35, 410–412.

Skirton, H., Lewis, C., Kent, A., & Coviello, D. (2010). Genetic

education and the challenge of genomic medicine:

Development of core competencies to support preparation

of health professionals in Europe. European Journal of

Human Genetics, 18, 972–977.

Tansella, M., & Thornicroft, G. (2009). Implementation

science: Understanding the translation of evidence into

practice. British Journal of Psychiatry, 195, 283–285.

U.S. Department of Health and Human Services. (2010). The

registered nurse population: Initial findings from the 2008

National Sample Survey of Registered Nurses. Washington, DC.

Retrieved from http://bhpr.hrsa.gov/

healthworkforce/rnsurvey

World Health Organization. (1998). Proposed international

guidelines on ethical issues in medical genetics and genetic services.

Geneva, Switzerland: Author.

116

Documents

Genetics-Genomics Competencies and Nursing Regulation