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Risk Assessment: An Important Component of the Essential Genetic and Genomic Competencies for Nurses With Graduate Degrees
Core competencies are important to the nursing profession as they play a role in advancing mastery of nursing behaviors and skills essential to practice. Genetic/genomic-based health care is one essential core competency for today’s nursing practice; it also is vital for the future of nursing. The advances in genetics/genomics are important to practice as health care moves toward significant developments in risk assessment, diagnostics, treatments, pharmacogenomics, and personalized and precision medicine that impact individuals across the life span and throughout the health and illness spectrum.
Objectives
1. Describe essential genetic and genomic competencies for nurses with graduate degrees
2. State specific skills required for advanced practice registered nurses (APRNs) regarding the risk assessment process
6In September 2011, a consensus panel was established through the American Nurses Association and the International Society of Nurses in Genetics to identify essential genetic and genomic competencies for nurses trained at the graduate level as an APRN (Greco, Tinley, & Seibert, 2012). The panel included three steering committee members and 28 advisory committee and consensus panel members from various professional, state, and/or university affiliates. During this process, 38 competencies were identified and organized into eight categories that were considered the essential genetic and genomic competencies for nurses with graduate degrees. The specific title of the completed document is the Essential Genetic and Genomic Competencies for Nurses With Graduate Degrees (Greco et al., 2012). Risk assessment and interpretation is considered an essential competency of professional practice, particularly for APRN’s practice, and is included in the document. The competency entails various measures for risk assessment including history-taking and assessment of risk to “identify clients with inherited predispositions to diseases as appropriate to the nurse’s practice setting” (Greco et al., 2012, p. 10). Specific skills for meeting the risk assessment and interpretation competency include the following:
1. Pedigree analysis for identification of potential inherited predisposition to disease
2. Estimation of risks for Mendelian and multifactorial disorders
3. Use of family history and pedigree for targeted physical assessment
4. Interpretation of findings based on myriad data collection that includes personal and family history, physical assessment, and ancillary data (e.g., laboratory, diagnostic tests, radiology) that may indicate suspicion for genetic/genomic disease, disease risk, or need for referral
5. Use of referral for at-risk family members for further assessment of inherited predisposition to disease (Greco et al., 2012, p. 10)
Other important competencies of professional practice that are linked to risk assessment and interpretation include graduate nurses providing 7genetic education, counseling, testing, and results interpretation based on their scope of practice and clinical setting, as well as providing consultation where appropriate; implementing clinical management into client care based on assessment data and utilizing genetic referrals or other resources when needed; and ensuring ethical, legal, and social issues are considered and applied where applicable based on the assessment (Greco et al., 2012).
Conducting a genomic risk assessment entails basic knowledge of genetics as well as an understanding of the patterns of Mendelian inheritance, with knowledge of inherited/familial disorders as well as complex diseases that are a part of personal, familial, behavioral, or environmental factors. The genomic risk assessment requires skills to assess the multifactors that contribute to disease risk (e.g., biological, behavioral, and/or environmental)—the ability to synthesize important information, to identify red flags that may suggest disease risk or predisposition to a genetic condition, and to provide appropriate risk communication while considering ethical, legal, and social implications that may arise from genetic testing, if needed. Further, one’s attitude regarding genetics/genomics should be one of lifelong learning for practice integration and to improve client outcomes regarding early identification of disease risk and measures to reduce adverse outcomes. Implementing a genomic risk assessment requires that APRN’s knowledge and skills are kept up to date due to rapid changes and future genomic advances in testing, diagnosis, treatment, and prevention of disease. The next chapter begins with the knowledge element required for genomic risk assessment by way of a brief overview and review of genetics/genomics, which includes commonly used concepts/terms as well as patterns associated with Mendelian inheritance.
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