DENVER, CO—Genomics, the study of all the genes and noncoding DNA including their interaction with each other and the environment in common disorders, is poised to take on a much broader application in nursing practice that genetics, the traditional study of chromosomes and individual genes and their impact on relatively rare disorders. Genomics is an area that will be essential for nurses to monitor, according to a presentation at the 2015 Oncology Nurse Advisor (ONA) Navigation Summit.
The nurse navigator’s role in cancer risk identification is three-fold, explained Susan Tinley, PhD, associate professor emerita at Creighton University College of Nursing: To identify increased risk based on family history, the psychosocial impact of the history on the patient and family, and the environmental factors and physical assessment data that contribute to disease and/or risk. Despite the changes brought on by genetic/genomics, aspects of the nursing role are consistent with the essential competencies required of all professional nurses.
What has not been changed by the genomic revolution is the family history, the navigator’s most essential tool in assessing individual or family risk. “Obtaining the family history and constructing a pedigree are necessary skills for all nurses to be able to identify if and what genetic services are appropriate for their patients,” Tinley said.
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A family history and pedigree is a compact record of family medical history that provides an analysis for inherited predisposition to cancer. It can be used to identify an inheritance pattern and gain insight into client issues and family dynamics. The pedigree should include the proband (your patient), his or her first-degree relatives (children, siblings, parents), second-degree relatives (grandparents, aunts and uncles, nieces and nephews), third-degree relatives (first cousins in a small family), and anyone else the patient feels is pertinent.
Additional information to include in the pedigree is nationality of those in the top generation and family names. Additional member information that can fill out the pedigree is added include age or age at death, cause of death, medical conditions; gestational age if currently pregnant; full vs half siblings, adoptions, nonpaternity, consanguinity (the property of being from the same kinship as another person), presence of identical or fraternal twins; and your name and date.
If the pedigree identifies a potential genetic association to cancer, the nurse navigator’s role in informed consent process is to provide all information including advantages and disadvantages of genetic testing, assure that the patient understands the options available, encourage personal application and weighing of options, and support the patient and family during decision-making.
This role becomes more of a counseling role after the test results are known. The navigator will have to dissipate patients’ and family members’ guilt, lead a realistic discussion of options for risk management, and help patients make a decision about next steps.
Despite the promise of genomics, some issues exist such as complexity in professional and public education, gathering familial information, recontact with new findings, data management, research/clinical divide, analytical validity vs clinical validity and utility, and understanding the implications of incidental findings.
The most prominent direct-to-consumer testing lab in the United States is 23 & Me. The FDA has limited their interpretation to ancestry testing, but they still do a comprehensive analysis and give clients all of the raw data. Interpretome, an online tool developed by scientists at Stanford, provides an analysis of raw data from 23 & Me.
How will oncology clinicians know what’s ready for translation into clinical practice? The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group is one source, but it is methodical and thus very slow. Others are Pharmacogenomics Knowledge Base (Pharmgkb) and National Institute of General Medical Sciences (NIGMS). In addition, clinical guidelines updates from the Centers for Disease Control and Prevention (CDC), National Cancer Institute (NCI), National Human Genome Research Institute, and others would include information on using genomic tests as their use is validated.
