Pei-Ying Chuang, PhD, MSN, RNa∗peiyingc@yahoo.com, Ching Hsiu Hsieh, EdPhD, RNb and Bashira Addullah Charles, PhD, RNc,     aSchool of Nursing, University of Texas Health Science Center at Houston, 6901 Bertner Avenue, Room 613, Houston, TX 77030, USA; bDepartment of Nursing, Chang Gung University of Science and Technology, No.2 Chia-Pu West Road, Putzu City, ChiaYi County 61363, Taiwan, Republic of China; cCenter Research Genomics & Global Health, National Human Genome Research Institute, National Institutes of Health, BG12A Room 4047, 12 South Drive, Bethesda, MD 20814, USA

∗Corresponding author.

The human genome, which is the complete set of human genetic information, significantly contributes to the health of an individual; it can lead to single or complex medical conditions (including cancer and heart disease) also affected by environmental and behavioral risk factors. To date, the challenges related to human genomics and nursing science focus on the following areas: (1) curriculum application, (2) advanced clinical practice in specific fields, and (3) hands-on bioscience laboratory skills. This review article summarizes current efforts and addresses critical components in nursing genomics.

Keywords

Human genomics

Nursing science

Essential competencies

Clinical practice

Bioscience skills

Key points

Introduction

The World Health Organization (WHO) has successfully recognized the potential that genomic science and advanced biotechnologies have for achieving public health goals.1 As a result, the Human Genome Project (HGP) has, for the past decade, celebrated its remarkable discoveries of 1800 disease genes and 2000 genetic tests for human health.2 The HGP not only accomplishes the whole genome sequence of the individual, but it also has at least 350 biotechnology-based products in current clinical trials to analyze and understand the enormous amount of bioinformatics data. The human genome is the complete set of human genetic information, including how the genes interact with each other.3,4 Conversely, genetics, a discipline of molecular biology, focuses more on the study of individual genes and the genes’ impact on heredity.5,6 To date, human genomics has had a huge effect on the caregiver’s ability to assess individual health risks, whether those risks are inherited or result from environmental, psychosocial, or cultural interaction. Because of this, personalized medicine in the twenty-first century has embraced a health care approach that incorporates both the prevention and treatment of diseases. At the same time, some scientists and health care providers deal with more complex ethical, legal, and social implications (ELSI) relevant to human genomics.

The Ethics Committee for the Human Genome Organization (HUGO, 1995)7 has proposed 6 ethical principles regarding “Ethical Issues in International Collaborative Research on the Human Genome” from the HGP and the Human Genome Diversity Project (HGDP): (1) competence on training planning, pilot and field testing, and quality control; (2) communication when dealing with socially and culturally sensitive topics; (3) research studies that acknowledge and include consultation needs, consent decisions, choices made, and collaboration benefits; (4) confidentiality code with the purpose of controlling access; (5) review of conflict of interest; and (6) continual review for the implementation.7–9 These principles respect the client and protect the client’s health information. In 2005, the General Conference of the United Nations Educational Scientific and Cultural Organization (UNESCO) approved the Universal Declaration on Bioethics and Human Rights.10 The Declaration does not diminish human dignity to the individual’s genetic characters, but it instead respects each person’s uniqueness and common bond with other humans. The Genetic Information Non-Discrimination Act (GINA), signed by President George W. Bush on May 21, 2008, reflects the realization that the need to understand ELSI issues has risen due to personal genetic information against discrimination based on health insurance and employment issues.11 Therefore, WHO’s Human Genetics (HGN) prioritizes 4 genomic areas (genetic testing and screening, genetic patents, genetic databanks, and pharmacogenomics), based on the ELSI goals.12 All health care providers in all professional fields need to learn about and be aware of these goals.

The American Nurses Association (ANA) endorses the Code of Ethics for Nurses (2001),13 Canadian nurses embrace the Code of Ethics for Registered Nurses,14 and UK nurses use the Standards of Conduct Performance and Ethics of Nurses and Midwives15; all of these codes emphasize the ideals and morals of the nursing profession. Nurses, regardless of their academic preparation, clinical specialty, and research experience, play a central role in applying human genomics to the health trajectory so as to improve patient outcomes. This review article summarizes nursing genomics in health trajectory on (1) essential nursing competencies in fundamental molecular biology/pathophysiology, ELSI, Web site resources, and training opportunities into nursing licensure requirements and institutional/academic accreditation; (2) evidence-based classification of genomic tests/biomarkers and family health history in adults, women/children, and public health in clinical practice; and (3) updated and innovative technology resources to better analyze hands-on bench science skills and bioinformatics through nursing programs in the United States and improved comprehensive expertise in the laboratory.

Nursing genomic/genetic academic preparation: from classrooms to creative learning environments

The National Coalition for Health Professional Education in Genetics (NCHPEG), National Human Genome Research Institute, American Medical Association, American Nurses Association, more than 50 interdisciplinary professional organizations, and consumers, volunteers, government agencies, private industries, managed care organizations, and genetics professional leaders have published genomic competencies for all health professional.16 All health professionals believe that integrating genomics education into their profession is fundamental. Recently, more than 49 professional nursing organizations and experts successfully developed the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics.16,17 The purpose of this standard document is to define essential competencies and to incorporate ELSIs into nursing education and practice for all registered nurses (RNs). In addition, a Consensus Panel in 2011 established the American Association of Colleges of Nursing’s (AACN) Essential Master’s Education in Nursing.18 Seven categories address 38 competencies, including risk assessment and interpretation; genetic education, counseling, testing, and result interpretation; clinical management and ELSI; professional roles and leadership; and research. Professional responsibility and professional practice domains, which are the main themes, each deals with specific areas of knowledge and clinical performance indicators.

However, fewer than one-third of all baccalaureate nursing programs in the United States include a genomics content in the curricula.19–24 In 2010, US Human Service25 reported that more than 40% of RNs who worked as faculty in their principal nursing position were between the ages of 50 and 59, and more than 19% of RNs whose principal position was as faculty were 60 years or older. These findings brought attention to the lack of progress of nursing genomic education for both students and faculty. Furthermore, Jenkins and Calzone26 reviewed the transtheoretical model core construct guide in a genetic/genomic curriculum based on the nursing faculty point of view (n = 156). One point 5% (n = 2) of the respondents identified that they were in the precontemplation stage with no intent to adopt any curriculum course change related to genetic/genomics. Thirty-five percent (n = 55) of the faculty was in the contemplation stage, suggesting that it would adopt curriculum changes...