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Nursing leaders hold the key to translating genomics into practice


Genomics is becoming a more familiar term. Genomics refers to the study of the combination of the environment, personal factors as well as all genetic variation. One cannot pick up a magazine or newspaper without reading about a new test or implication of a recent scientific discovery associated with the genome. The public is engaging in direct-to-consumer genetic testing without healthcare provider input. As an example, for less than $100, a person can learn about more than 240 health conditions or traits from one direct-to-consumer genetic testing company; however, the validity and utility of that information remains uncertain. Sequencing one’s entire genome for $1,000, a cost considered affordable in today’s healthcare environment, will be available soon. Yet nurses’ readiness to manage and navigate with patients the translation of genomic information into health care is challenged by their lack of knowledge and confidence. Nursing leaders, likewise, lack the knowledge and confidence needed to prepare and guide nurses to meet the changing healthcare landscape.

ANA’s role in advancing genomic competencies

For more than 20 years, the American Nurses Association (ANA) has recognized the impact of genomic information on nursing practice, and as a result has developed, promoted and disseminated genetic knowledge. An initial ANA survey of nurses’ knowledge about and use of genetic information was documented in a 1995 publication titled Managing Genetic Information: Implications for Nursing Practice. In 2005, ANA joined forces with the American Medical Association and the National Human Genome Research Institute, National Institutes of Health (NIH) to acquire a grant to support genomic education for all health professionals through establishment of the organization National Coalition of Health Professional Education in Genetics. Other efforts resulted in the publication of position statements related to genomics, scope and standards, and the establishment of Essential Genomic Nursing Competencies in 2005. These competencies were updated in 2009 and recently were leveled for advanced nursing practice in 2012. ANA is currently preparing to launch two educational webinars to address needs indicated by surveys concerning knowledge of basic genomics and integration into nursing practice.

Administering the survey

A survey administered during the 2010 ANA House of Delegates (HOD) meeting, representing nursing leaders from across the United States, was designed to gather information to inform new and continuing initiatives related to genomics. The survey tool assessed attitudes, receptivity, confidence, practice and competency of nurses in genomics. The Institutional Review Board (IRB)-approved study had no identified risks to participants, and those completing the survey were offered a copy of the free publication, Essentials of Genetic and Genomic Nursing: Competencies, Curricular Guidelines, and Outcome Indicators, 2nd edition, published by the American Nurses Association. Submission of survey data was anonymous and data were analyzed using SPSS for statistical analysis.

The leader survey was carried out during the second day of the ANA HOD in 2010. Paper surveys were provided to delegates seated in the house assembly. Of the 582 delegates attending the meeting, 16 delegates were those elected to the ANA Board of Directors. Members of the board were not seated in the assembly and did not participate in the survey. Surveys were obtained from 244 of the potential 566 delegates, for a response rate of 43%.

Profile of survey participants

Participants’ mean age was 56 years (range 27-75) and most were female (94%) and Caucasian (82%). More than half of the nurse leaders held a master’s degree (53%) or higher (doctoral 12%). One quarter had a baccalaureate degree (25%) and 10% were diploma or associate-degree prepared nurses. The mean number of years in nursing was 31 (range of 3-50). The primary nursing role identified by delegates was education (39%), followed by patient care (31%), administration (15%), other (13%), and research/student (2%). Participants indicated they spent 35% of their time with patients.

Findings reveal gaps in knowledge, competencies

The majority of nurse leaders (98%) stated nurse education in genomics was very or somewhat important. The two most frequently cited advantages nurse leaders identified related to genomic integration into nursing practice were better decisions about recommendations for preventive services and better treatment decisions. The two most frequently cited disadvantages were increased insurance discrimination and increased patient anxiety about risk. Despite recognized importance, respondents rated their understanding of common genetic diseases (62.8%) and their overall genomics knowledge (72%) as fair or poor. Most were unfamiliar with the established competencies (64%) and had not had a genetics course since licensure (64%). Most could correctly identify that a family history was a key component of nursing care; however, many incorrectly identified core elements of family history collection.

To obtain a more objective knowledge measure, a knowledge score was generated using 12 identified questions. This score was calculated for nurse leaders who responded to all 12 questions (220/244). The mean total score of correct answers was 9.24 out of 12 questions (range 3-12 correct answers). Despite the reasonably high knowledge score, drilling down into specifics revealed significant knowledge gaps. For instance, most (62%) incorrectly responded that common diseases such as diabetes and heart disease are caused by a single gene variant. Higher academic education was shown to increase knowledge question accuracy.

A call for greater nurse competency in genomics

Although nearly 20 years have passed since the initial ANA survey, and the map of the human genome was completed in 2003, it appears nursing education and translation of genomic information into nursing practice has not significantly advanced. Nurse leaders indicate they believe genomics is important; however, they may not be well prepared to steer nurses in the translation of genomic information to patient care. Nurse leaders are usually the visionary guides to the larger institutional context in which patient care is provided. Leaders who understand genomics and the importance of the gamut of information from family history to next generation technologies and the ethical implications can act to make decisions that enable expansion of nursing competency in genomics, and establish the infrastructure needed to use genomic information in practice such as policies, electronic health record (EHR) capacity, and established referral networks.

Survey results support education that would address misconceptions about the disadvantages of genomic integration. For instance, most felt that genomics would increase insurance discrimination, which raises the concern that these leaders may be unfamiliar with the Genetics Information Nondiscrimination Act. Additionally, the lack of knowledge in core elements of family history collection can influence policies and EHR capacity decision-making. As such, this is a critical education priority given that family history falls within the scope of practice of every nurse, is not cost or technology dependent, and not only predicts health risks but also informs health promotion, disease prevention, referral for further evaluation, and can be useful to establishing the differential diagnosis.

The major limitation of this survey is that the ANA HOD may not be representative of the national nursing leadership community. Additional study in other nursing leadership organizations, such as the American Organization of Nurse Executives, is warranted. As such, caution should be taken in generalizing these findings.

Progress needed to translate genomic education into care

This study provides insight into knowledge gaps and educational needs of nurse leaders that can be quickly addressed. Decisions and planning by knowledgeable leaders will enable genomic scientific information to be translated into appropriate care measures that ultimately save health care dollars and more importantly improve the quality and safety of patient care. The time has come for nurse leaders to recognize that the first and most important step to the use of genomic data in health care starts with their knowledge and ability to influence nursing capacity to include genomics in their practice.

Laurie Badzek is the director at the ANA Center for Ethics & Human Rights, and professor at West Virginia University School of Nursing in Morgantown, WV. Kathleen A. Calzone is a senior nurse specialist, research, at the National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch in Bethesda, MD. Jean Jenkins is a clinical advisor at the National Institutes of Health, National Human Genome Research Institute in Bethesda, MD. Stacey Culp is a research assistant professor at West Virginia University School of Nursing in Morgantown, WV. Vence L. Bonham is branch chief, Education and Community Involvement Branch at the National Institutes of Health, National Human Genome Research Institute in Bethesda, MD.

Funding: This research was supported by the Intramural Research Program of the National Institutes of Health, National Cancer Institute, and National Human Genome Research Institute as well as West Virginia University School of Nursing, and the American Nurses Association.


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Consensus Panel on Genetic/Genomic Nursing Competencies. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics. Silver Spring, Md: American Nurses Association; 2006.

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Calzone K, Jenkins J, Yates J, et al. Survey of nursing integration of genomics into nursing practice. J Nurs Scholarsh. 2012;44(4):428-36.

Consensus Panel on Genetic/Genomic Nursing Competencies. Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators. 2nd ed. Silver Spring, Md: American Nurses Association; 2009.

Berg AO, Baird MA, Botkin JR, et al. National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med. 2009;151(12):872-7.

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