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Journal of Professional Nursing
journal homepage: www.elsevier.com/locate/jpnu
GUEST EDITORIAL
Genetics and Genomics Content in Nursing Education: A National Imperative
Nurses must be prepared in fundamental genetic and genomic content to meet population health needs. Understanding the molecular and genetic
basis of disease, treatment modalities, and recognition of therapeutic response to therapy is an imperative for quality nursing practice. Genetic
testing has implications not only for the patient, but also for at-risk family members. Healthcare tailored to genetic profiling is a reality today, and it
is crucial that nurses receive extensive formal and ongoing continued education on genetics and genomics.
Although frequently used interchangeably, genetics is the study of heredity, focused on single genes, while genomics is the study of all genes,
genetic inter-relationships, and their influence on growth and development (World Health Organization, 2017). Personalized healthcare began with
the Human Genome Project, conducted from 1990 to 2003. The project represented an international effort to sequence the human genome and
stimulated the growth of genetic and genomic science. Human genetic sequencing unlocked the amino acid code and researchers were able to begin
determining the function of human genes (Chial, 2008; Collins, Green, Guttmacher & Guyer, 2003; International Human Genome Sequencing
Consortium, 2001; Lander, 2011). Findings of the Human Genome Project resulted in new possibilities for personalized healthcare. One example is
CRISPR (clustered regularly interspaced short palindromic repeats) genome editing technology, which determines possible ways to fix broken code
or gene mutations (Ledford, 2016). Applications of CRISPR can potentially correct genetic mutations before an embryo is implanted for in vitro
fertilization. Recently, researchers corrected a disease-causing mutation in the MYBPC3 gene linked to hypertrophic cardiomyopathy in human
embryos with the use of CRISPR-Cas9 (Ma et al., 2017).
Multiple opportunities for application of personalized treatments based on genetic profiling across all populations now exist to the public. President
Obama presented a Precision Medicine Initiative for use of personalized genetic information to treat medical conditions such as cancer and diabetes in
the 2015 State of the Union Address. For example, a tailored treatment approach is now available to women with ovarian cancer, rather than the
standard systemic treatment used for more than three decades (Kim, Ueda, Naka & Enomoto, 2012). The new treatment includes a poly (ADP-ribose)
polymerase (PARP) inhibitor approved by the U.S. Food and Drug Administration (FDA) in 2015 specifically for women with ovarian cancer who have a
BRCA 1 or BRCA2 mutation (Ledermann & El-Khouly, 2015; Lord & Ashworth, 2017).
In addition to personalized treatment, direct-to-consumer genetic testing is a current reality. In 2015, Color Genomics was the first to offer a
direct-to-consumer 19 gene panel for hereditary cancers (The New York Times, 2015) and earlier this year expanded to offer a 30 gene hereditary
heart health panel assessing risk for cardiac arrhythmias, cardiomyopathies, and arteriopathies (Color Genomics, 2018). The genetic testing is
advertised for $249 and completed using a self-collected saliva sample. In March 2018, the U.S. FDA authorized 23andMe, a privately held personal
genomics and biotechnology company, to offer direct-to-consumer testing of three specific BRCA1 and BRCA2 gene mutations common in in-
dividuals of Ashkenazi Jewish decent via self-collected saliva sample (U.S. Department of Health and Human Services, 2018). Individuals who
complete direct-to-consumer genetic testing will likely present the testing results to their healthcare providers for clinical interpretation and
management. Understanding the availability, reliability, and value of direct-to-consumer genetic testing is necessary for nurses.
1. Genetic and Genomic Education for Nurses
Inclusion of genetic competencies for nursing education has been recommended. The Essentials of Genetic and Genomic Nursing Competencies
and Curricula Guidelines were established by a consensus panel and published by the American Nurses Association (2006). The goal of the panel was
to define essential genetic and genomic competencies for all nurses, regardless of level of academic preparation, practice setting or specialty.
Laurie Connors
GUEST EDITOR
Laurie Connors, DNP, RN, APNG, FNP-BC,
AGN-BC
Assistant Professor,
Vanderbilt University School of Nursing
E-mail address: Laurie.m.connors@
vanderbilt.edu
Mavis Schorn
GUEST EDITOR
Mavis Schorn, PhD, RN, CNM, FACNM
Professor, Senior Associate Dean for Academics
Vanderbilt University School of Nursing, Genetics
and Genomics in Healthcare
Vanderbilt University School of Nursing, Genetics
and Genomics in Healthcare
https://doi.org/10.1016/j.profnurs.2018.06.003
Journal of Professional Nursing 34 (2018) 235–237
8755-7223/ © 2018 Published by Elsevier Inc.
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