Special issue highlights nurses' role and practical considerations in genomic healthcare

Ensuring that nurses play a central role in the application of genomics to clinical care is at the core of the 2013 Genomics Special Issue of the Journal of Nursing Scholarship. The publication, coordinated by National Institutes of Health researchers Jean Jenkins, Ph.D., RN, FAAN, and Kathleen Calzone, Ph.D., RN APNG, FAAN, explores genomic variation and its clinical implications for common diseases in pediatric and adult patients such as cardiovascular diseases, metabolic syndrome and cancer.

"Evidence suggests that nurses are very interested in integrating genomic advances into practice, yet remain unsure of how and where to begin. This Special Issue introduces nurses to the relevancy of genomic information for clinical care today. The articles provide foundational knowledge of significance to genomic nursing education, practice, and research," said Dr. Jenkins with the National Human Genome Research Institute (NHGRI). This is the third series of genomics in nursing articles coordinated by Drs. Jenkins and Calzone.

The special issue also spotlights the genomics of common health conditions, emerging genomic science and technology and the ethical, legal, social and nursing research issues associated with the translation of genomics into healthcare. The special issue will be freely available online on Feb. 1, 2013, at JNS Genomic Nursing Series.

The issue begins with the editorial Relevance of Genomics to Healthcare and Nursing Practice, which underscores the importance of nurses understanding the genomic science behind care decisions in order to improve patient outcomes. It was authored by Drs. Calzone and Jenkins, Dr. Nick Nicol, at the Universal College of Learning, New Zealand, Dr. Heather Skirton from Plymouth University in the United Kingdom, Dr. Greg Feero, a primary care physician formerly with NHGRI and Dr. Eric Green, NHGRI director.

"Genomics impacts the practice of all nurses regardless of their academic preparation, role or specialty. This series is intended to address the genomics of common diseases to aid in preparing a genomically competent nursing workforce," said Dr. Calzone with the National Cancer Institute.

The articles:

1. Integration of Genomics in Cancer Care by Erika Santos, Ph.D., M.S., RN, et al., reviews cancer etiology, hereditary cancer syndromes, epigenetics factors and the influence of genomics on cancer management. The authors use case studies to illustrate how rapidly developing genomic advances are changing cancer care.

2. Genomics and Autism Spectrum Disorder (ASD) by Norah Johnson, Ph.D., RN, CPNP, et al., examines ASD identification and diagnosis and its implications for the family. The authors review the genomic contributions to the risk for ASD and highlight how current research on ASD underscores the complexity of genetic processes involved.

3. Current and Emerging Approaches in Genomics by Yvette Conley, Ph.D., et al., focuses on technologies for collecting, analyzing and interpreting genomic information. The authors summarize information about four approaches used in genomic research with implications for clinical application, including genome sequencing, genome-wide association studies epigenomics and gene expression.

4. Ethical, Legal and Social issues in the Translation of Genomics into Healthcare by Laurie Badzek, LLM, J.D., M.S., RN, FAAN, et al., reviews the ethical and legal foundations of genomic healthcare and highlights issues confronting nurses today such as confidentiality and privacy of genomic information, informed consent, genetic testing and the use of biorepositories.

5. An Overview of the Genomics of Metabolic Syndrome by Jacquelyn Taylor, Ph.D., PNP-BC, et al., analyzes diagnostic criteria for the components of metabolic syndrome (MetS). The contributions of cardiovascular, obesity, and diabetes genomic risk factors for MetS and the number of overlapping genes and polymorphisms associated with MetS are described with guidance for nurses of what this information means in practice.

6. Cardiovascular Genomics by Shu-Fen Wung Ph.D., RN, ACNP-BC, FAAN et al., centers on cardiovascular genomics using clinically relevant exemplars: myocardial infarction and coronary artery disease; stroke; and sudden cardiac death. The authors discuss the benefits and limitations of genetic testing for each of these case examples, describing specific implications for nurses.

7. An Update of Childhood Genetic Disorders by Cynthia Prows, M.S.N, CNS, FAAN, et al., spotlights nurses' important role in identifying children with genetic disorders and facilitating their access to services and resources. This article illustrates genomic concepts of relevance to nurses who care for infants, children and adolescents and lists resources.

8. Physical, Psychological, & Ethical Issues in Caring for Individuals with Genetic Skin Disease by Diane Seibert, Ph.D., ARNP, FAANP, and Thomas Darling M.D, Ph.D., examines five genetic skin disorders, their inheritance patterns, genomics and treatments. The authors discuss issues and concerns important for nurses caring for patients with genetic skin diseases.

9. Implications of Newborn Screening for Nurses article by Jane DeLuca, Ph.D., RN, CPNP, APNG, et al., surveys newborn screening activities, current controversies and ethical considerations. It also describes nurses' roles in the newborn screening process with suggestions for nursing education and research and a summary of expected future developments in newborn screening (i.e., genome sequencing) with implications for policy, practice, education and research.

10. The Implications of Genomics on the Nursing Care of Adults with Neuropsychiatric Conditions by Debra Schutte, Ph.D., RN, et al., concentrates on the genomic contributions to adult conditions, including irreversible dementias, Alzheimer's disease and Huntington's Disease. The authors examine implications for nursing practice and research when caring for these challenging patients.

11. A Blueprint for Genomic Nursing Science by Dr. Calzone, et al., summarizes recommendations of a 2012 Genomic Nursing State of Science Advisory Panel for furthering genomic nursing science to improve health outcomes. They offer targeted research topics for consideration to build the evidence of the value of genomic information.

    Webinars from authors of the special issue will be coming in 2013 and can be found at www.genome.gov/27552312/journal-of-nursing-scholarship-genomic-nursing-webinar-series/. Additional online genetics and genomic education resources for nurses, physician assistants and genetic counselors can be found at:

    To provide feedback on the 2013 Genomics Special Issue, e-mail Dr. Jenkins at jean.jenkins@nih.gov or Dr. Calzone at calzonek@mail.nih.gov.

    Posted: November 28, 2017

    Last updated: November 28, 2017