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Improving nursing practice with genomics

Pestka, Elizabeth L. RN, APNG, CNS, MS; Burbank, Katherine F. RN, CGN, BSN; Junglen, Laura M. RN, BSN

doi: 10.1097/01.NURSE.0000365027.25526.ce

Be prepared to provide care and educate patients based on the increasingly important science of genetics and environmental influences.

At the Mayo Clinic in Rochester, Minn., Elizabeth L. Pestka is a clinical nurse specialist and assistant professor, Katherine F. Burbank is a maternal-fetal medicine nurse in high-risk obstetrics and a perinatal educator, and Laura M. Junglen is a staff nurse in pulmonary and critical care medicine.

No matter what your practice area, your patients may expect you to provide care based on the new science of genomics. Here's what you need to know.



GENOMICS IS A SCIENCE that's central to nursing because essentially all disorders and conditions have a genetic or genomic component.1Genetics is the examination and understanding of genes and their effects.1Genomics, a much newer term, considers all the genes in a human genome and their interactions with each other, the environment, and other psychosocial and cultural factors. (A genome is all of the genetic material of a cell or of an individual.)

In the future, each person's healthcare will increasingly include genomic information about prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness. This article will provide an overview of genomics and how you can apply it in nursing practice. First, let's consider why genomics has become such a hot issue.

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Explosion of knowledge

The sequencing of the human genome in the Human Genome Project has led to rapid progress in genomics research and its application to clinical practice.2 The Human Genome Project was an international collaboration of scientists who successfully mapped the entire 3 billion base pairs of the human genome. The project has contributed to an exceptional increase in the identification of genes associated with a wide array of disorders.3

This new information is reaching people everywhere. Patients, who are learning about discoveries in genetics and genomics from the media, are more aware of the genomic aspects of disease and may be asking you related questions. Now, let's consider how these advances in genomics and increased public awareness have affected nursing practice.

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Panel sets out competencies

In 2005 a consensus panel was convened to establish Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics.1 All nursing specialty groups were invited to participate. The panel agreed that genomics is applicable to the practice of all nurses regardless of academic preparation, practice setting, role, or specialty, because the public will increasingly expect nurses to use genomic information and technology when providing care.1

The consensus panel defined essential genetic and genomic competencies for all RNs. These competencies should incorporate genetic and genomic perspectives into all nursing practice, not replace existing standards of practice. Many nurses are already including some genomic aspects in their care. See Applying genomics to practice.

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How to assess and intervene

Our lead author, Elizabeth Pestka, has taken the list of endorsed competencies and incorporated them into the nursing process framework.4 These actions apply genomics information to patient care. The goal is to use some of them with every patient.

Reviewing the genomic-focused nursing assessments will help you plan care for each patient's specific needs. These assessments include:

  • obtaining a family history
  • constructing or updating a family pedigree, which is a diagram of at least three generations of a person's ancestors and their health information
  • asking about and evaluating environmental factors influencing gene expression, which include age, diet, exercise, sleep patterns, infections, toxins, relationships, and major life events. For instance, a woman born with genes that place her at increased risk for developing alcoholism can refrain from drinking alcoholic beverages to keep the gene from being expressed.
  • evaluating signs and symptoms, including lab results, related to genomic conditions. For example, if a man in his 20s has several close family members who've had myocardial infarctions in their 40s, he'll need to closely monitor and respond to results of cholesterol levels and BP readings.
  • asking patients and their family members what they know or want to know about the genomic aspects of their condition. For instance, if a woman is being treated for Factor V Leiden, ask her if she knows how this condition is passed from one generation to the next and who's at risk for being affected.
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How to intervene

To illustrate how to intervene, we'll use a typical patient we'll call Joanne, who's been diagnosed with type 2 diabetes. Nursing interventions focusing on genomics include:

  • educating the patient about genomic factors related to her condition and other pertinent information. For example, Joanne wants to know if her condition is inherited. Teach her that genetics do play a significant role in the development of type 2 diabetes.
  • teaching the patient about risk factors for health conditions based on her family history and pedigree information. When reviewing Joanne's family history with her, you find that several of her family members have been diagnosed with type 2 diabetes. This indicates that her genetic predisposition for this condition is high, especially if the family members were diagnosed early in life. By focusing on her family history risk, Joanne can become more informed and possibly more motivated to modify her environmental factors for better health.
  • discussing preventive measures for genomic conditions a patient is at increased risk to develop, available genetic testing, treatment options specific to genomic information, and pharmacogenomics, the tailoring of medications to genomic information. The best preventive measures for decreasing Joanne's problems with type 2 diabetes are to eat a healthy diet and exercise daily. She should also monitor her health for complications of diabetes to reduce its impact. No genetic testing for type 2 diabetes is currently available.
  • discussing ethical, legal, social, and cultural issues related to genomics and support services wanted or needed. Joanne may be worried that her children will be denied health insurance coverage based on their family history. Tell her that federal legislation prohibits discrimination for health insurance coverage based on genetic risk.
  • asking whether the patient wants or needs a genetics referral and assisting with arranging it if indicated. Joanne may want to know her risk of passing type 2 diabetes to her children. A genetics referral may help answer specific questions but most often, genetic referrals are associated with those illnesses for which genetic testing is available.
  • evaluating the patient's understanding, satisfaction, and outcomes. Ask Joanne if she's satisfied with the information and recommendations she's received about her condition, specifically the inheritance and prevention aspects. Ask her if she has any other questions or concerns related to inherited disorders.

At our institution, the Mayo Clinic, we initiated a nursing genomics education program in 2001 that's helped to prepare nurses to include genomics in comprehensive care. Our nursing genomics interest group is a vital part of the genomics education program that focuses on the individualized needs of our patients. Two nurses who are leaders of this program have received genetics credentialing, based on a professional portfolio process documenting clinical proficiency and knowledge, and serve as expert resources. To learn more about genomics, see Resources.

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Opportunity and obligation

Healthcare workers will increasingly include genomic information for personalized, up-to-date care. You have an opportunity and an obligation to learn about genomics and include aspects of it in your nursing practice. Your assessments and interventions can give your patients the benefit of genomic discoveries.

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Applying genomics to practice

For one example of how nurses can use their knowledge of genomics, let's look at a case history. A man in his 40s was admitted to the hospital after he suddenly exhibited psychotic behavior. His medical record showed no personal or family history of mental illness and his signs and symptoms resolved within 2 days of hospitalization. The patient said that immediately before the psychotic episode he was under a lot of stress, wasn't eating or sleeping well, and had taken over-the-counter cough medication. He rarely used any medications and couldn't recall the last time he'd taken cough medicine.

The patient had extensive medical testing to determine the cause of his psychotic behavior, but the results didn't reveal any clues. When he was due to be discharged from the hospital, he still didn't have a clear explanation of the cause of his psychotic episode. Understandably, he and his family were very concerned that it might happen again.

His nurse provided a possible explanation: one of his cytochrome P450 enzymes, CYP2D6, doesn't metabolize dextromethorphan, an ingredient in the cough medicine. CYP2D6, an enzyme found mostly in the liver, plays a significant role in metabolizing numerous medications. When the gene coding for this enzyme is defective and not able to produce enough enzyme, the body is unable to break down and use medication as expected. Unmetabolized dextromethorphan may have reached a toxic level and caused psychotic signs and symptoms. The patient and his wife thought this was a very possible explanation for his sudden psychosis. They concluded that he could prevent problems in the future by reducing his stress, eating and sleeping better, and avoiding medications containing dextromethorphan.

Cytochrome P450 genetic testing could have been performed, but the family was satisfied with a plausible explanation for the troubling behavior and a plan to avoid similar risks in the future. They'll request cytochrome P450 genetic testing if a similar situation arises. His siblings and children may want to consider genetic testing to determine if they're at risk for a similar "poor metabolism" of medications that could have implications for their healthcare. The patient and his family members expressed gratitude for informed patient education that included up-to-date genetics and genomics information.

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1. Consensus Panel on Genetic/Genomic Nursing Competencies. Essential Nursing Competencies and Curricular Guidelines for Genetics and Genomics. Silver Spring, MD: American Nurses Association; 2006.
2. Fontanarosa PB, Pasche B, DeAngelis CD. Genetics and genomics for clinicians. JAMA. 2008;299(11):1364–1365.
3. Feero G. Dashboards, Detroit, and DNA .
4. Pestka EL, Meisheid AM, O'Neil ML. Hospital extra: educating nurses on genomics. Am J Nurs. 2008;108(2):72A–72D.
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. American Medical Association (for brochure and questionnaires for prenatal, pediatric and adult patients).
    . American Society of Human Genetics (select "Education").
      . Centers for Disease Control and Prevention (for family history fact sheets, tools, resources).
        . GeneTests (select "Educational Materials" or "Gene Reviews" for disease-specific information).
          . Genetic Alliance (for genetics support groups).
            . Genetics Home Reference (for patient information).
              . International Society of Nurses in Genetics.
                . National Coalition for Health Professional Education in Genetics.
                  . National Human Genome Research Institute educational resources.
                    . Surgeon General's Family Health History Initiative.
                      © 2009 Lippincott Williams & Wilkins, Inc.