Dr. Jean Jenkins: Hello.
This is Dr. Kathy Calzone from the National Cancer Institute, NIH and I'm Dr. Jean Jenkins
of the National Human Genome Research Institute, also at the NIH.
We plan to share with you today information about a new resource that will be useful to
you, the Journal of Nursing Scholarship 2013 Genomics Special Issue with articles that
highlight the relevance of genomics to healthcare and nursing practice.
Dr. Kathy Calzone: Genomics applications in healthcare are increasingly
relevant to care delivery by all healthcare professionals including nurses who are practicing
in every healthcare setting.
Nurses bring an important perspective to the application of genomics in patient care.
And in particular, there was an expressed interest by nursing deans for an updated genomics
clinical series as a resource for education.
Jenkins: The purpose of this special issue is to provide
evidence reviews about the genomics of common health conditions with relevance for nursing
practice and services.
The issue consists of an editorial and 11 articles, all intended to provide a platform
for preparing both the practicing and academic communities for a new reality.
The articles provide an overview of current and emerging genomic science and technology;
implications for international nursing care; the state of the evidence about genomic variation
and clinical implications for common diseases such as cardiovascular diseases, metabolic
syndrome, and cancer; and includes content about both pediatric and adult conditions.
Crucial to competent nursing care the ethical, legal, social, and nursing research issues
associated with the translation of genomics into healthcare are reviewed.
Calzone: The special issue begins with an editorial
and it's entitled "Relevance of Genomics to Healthcare and Nursing Practice" written by
myself, Dr. Jean Jenkins, Dr. Nick Nicol from the Universal College of Learning in New Zealand,
Dr. Heather Skirton from Plymouth University in the United Kingdom, and Dr. Greg Feero,
who at the time was working at the National Human Genome Research Institute and is a primary
care physician; as well as Dr. Eric Green, who is the director of the National Human
Genome Research Institute at the National Institutes of Health.
The editorial highlights the relevance and value of this special issue for nurses and
their important role in the application of genomics to clinical care.
Jenkins: Each article included in this special issue
may be of interest to you.
We now provide a few details about each so you can target those of greatest value to
your practice.
The article "Integration of Genomics in Cancer Care" by Dr. Erika Santos and others provides
an overview of 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 all aspects of cancer care.
Calzone: A topic of great interest to nurses is the
article on "Genomics and Autism Spectrum Disorder."
It was written by Dr. Norah Johnson and colleagues and this article provides an overview of Autism
Spectrum Disorder identification, diagnosis, and the implications for the family.
The authors review the genomic contributions to the risk for Autism Spectrum Disorder and
highlight how current research on Autism Spectrum Disorder underscores the complexity of genetic
processes involved.
The genomics of Autism Spectrum Disorder is not yet well understood so the repercussions
of this lack of complete information for nursing practice, education, and research are addressed.
Jenkins: "Current and Emerging Approaches in Genomics"
by Dr. Yvette Conley and others focuses on the application of technologies for collecting,
analyzing, and interpreting genomic information.
The authors summarize information about four approaches used for genomic research with
implications for clinical application including genome sequencing, genome-wide association
studies, epigenomics, and gene expression.
Jenkins: Understanding the ethical, legal, and social
issues in the translation of genomic information into practice is essential to provide patients,
families, and communities with competent, safe, effective healthcare.
Laurie Badzek and others in their article entitled "Ethical, Legal, & Social Issues
in the Translation of Genomics into Healthcare" provide a review of ethical and legal foundations.
These authors highlight issues confronting nurses today such as confidentiality and privacy
of genomic information, informed consent, genetic testing, and biorepositories.
Calzone: Dr. Jacquelyn Taylor and others wrote "An
Overview of the Genomics of Metabolic Syndrome."
This article provides an overview of the diagnostic criteria for the components of metabolic syndrome.
The contributions of cardiovascular, obesity, and diabetes genomic risk factors for metabolic
syndrome and the number of overlapping genes and polymorphisms associated with metabolic
syndrome are described with guidance for nurses of what this information means in practice.
Then building on the metabolic syndrome article is another article on "Cardiovascular Genomics"
written by Dr. Shu-Fen Wung and others, which provides an update on cardiovascular genomics
using clinically relevant exemplars.
Those include myocardial infarction and coronary artery disease, stroke, and sudden cardiac
death.
Genetic testing is commercially available but not recommended for clinical use for cardiovascular
disease, myocardial infarction, or stroke.
However, genetic testing for sudden cardiac death can provide valuable information for
tailoring prevention and management strategies.
The authors discuss the benefits and limitations of genetic testing for each of these case
examples and describe specific implications for nurses.
Calzone: An important article for pediatric nurses
is the one written by Cynthia Prows and colleagues.
The purpose of this article "An Update of Childhood Genetic Disorders" is to increase
awareness of new developments in genetic disorders that are commonly seen in practice and taught
by nursing faculty.
Nurses have an important role in the identification of children with genetic disorders and facilitating
access to services and resources.
This article illustrates important genomic concepts of relevance to nurses who care for
infants, children, or adolescents and specifies resources to assist in this care.
Jenkins: Dr. Diane Seibert and Dr. Thomas Darling wrote
the article "Physical, Psychological, & Ethical Issues in Caring for Individuals with Genetic
Skin Disease."
This article provides an overview of five genetic skin disorders including information
about inheritance patterns, genomics, and treatments.
The authors also discuss issues and concerns important to caring for patients with genetic-based
skin diseases.
Calzone: The article "Implications of Newborn Screening
for Nurses" written by Dr. Jane DeLuca and others provides content that may be more familiar
to nurses who work with newborns.
This article provides an overview of current newborn screening activities but also includes
details about current controversies and ethical considerations that may be new to you.
The roles of nurses in the newborn screening process with suggestions for nursing education
and research are described.
A summary of expected future developments in newborn screening such as genome sequencing
with implications for policy, practice, education, and research is also included.
Jenkins: As nurses are increasingly seeing older patients
in their practice, the article by Dr. Debra Schutte and others "The Implications of Genomics
on the Nursing Care of Adults with Neuropsychiatric Conditions" may be quite important for nurses
working with adults.
Neuropsychiatric disorders represent neurological conditions that may have both cognitive and/or
behavioral manifestations.
The purpose of this paper is to review genomic contributions to the following adult conditions:
irreversible dementias, Alzheimer disease, and Huntington Disease.
The authors examine immediate as well as future implications for nursing practice and research
presented by these challenging patients and their families.
Calzone: The final article in this Genomics Special
Issue is "A Blueprint for Genomic Nursing Science" written by myself and others.
This article summarizes recommendations from a 2012 Genomic Nursing State of the Science
Advisory Panel.
The blueprint provides the framework for furthering genomic nursing science to improve health
outcomes.
Suggestions for targeted research to build the evidence base of the value of genomic
information are offered.
Jenkins: This 2013 Genomics Special Issue provides
a world perspective of the impact of genomic knowledge on clinical nursing practice and
healthcare in general.
All articles are open access and can be viewed at this genome.gov website.
We'd like to thank the editor of the Journal of Nursing Scholarship Dr. Susan Gennaro and
their editorial board for supporting the publication of this information of great value to nurses
as well as other healthcare providers.
This Genomics Special Issue was made possible by several colleagues who provided their creativity,
expertise, and time to plan and review all these wonderful manuscripts.
The issue lead editors included Dr. Kathy Calzone and myself in collaboration with Dr.
Nick Nicol.
Our editorial advisory board included Cynthia Prows, Dr. Diane Seibert, and Dr. Greg Feero.
Calzone: For other genomic educational resources we
encourage you to visit the Genetic and Genomic Competency Center for Education, or G2C2 for
short, and the Global Genetics and Genomics Community, or G3C for short.
We hope you enjoy these articles and that you find them helpful to integrate genomic
information in your nursing responsibilities.
Additional webinars with insights from the special issue authors will be coming in 2013
so we encourage you to keep your eyes open for future announcements.
And we welcome your feedback on the topics or content provided in this special issue,
so please email your thoughts to either Jean Jenkins or myself and we thank you for your
time.