INTRODUCTION:

Genetics/genomics nursing is the protection, promotion, and optimization of health and abilities, prevention of illness and injury, alleviation of suffering through the diagnosis of human response, and advocacy in the care of the genetic and genomic health of individuals, families, communities, and populations. This includes health issues, genetic conditions, and diseases or susceptibilities to diseases caused or influenced by genes in interaction with other risk factors that may require nursing care. Genetics nursing has traditionally involved the care of people with single-gene and chromosome disorders such as cystic fibrosis, Huntington disease, and Down syndrome. However, even single-gene disorders are modified by other genes and the environment, thus broadening the nursing specialty to include genomics nursing, which involves health issues related to multiple genes in the human genome, including their interactions with each other and the environment, and the influence of other psychosocial and cultural factors[1]. The term genetics nursing is still primarily used throughout this document because:

· Nurses, physicians, and counselors in this specialty use “genetic” or “genetics” in their professional titles;

· Certifying boards in this field award “genetic(s)” credentials; and

· National and international organizations representing the majority of professionals in this field still use “genetic” or “genetics” in their names.

DESCRIPTION OF GENETICS/GENOMICS NURSING:

The genetics nursing speciality focuses on providing client-centered nursing care, education, or research based on understanding the underlying genetics and genomics of the individuals, families, communities, or populations affected by, or at risk for, diseases or conditions with a genetic component. Genetics nursing practice strives to be evidence-based. Genetic conditions are anomalies, behaviors, diseases, issues, or predispositions caused or influenced by genes which may affect one’s health or abilities and may or may not be inherited. Genetics nursing practice includes genomics, which encompasses all the genes in the human genome together, including their interactions with each other and the environment, and the implications for health and nursing care. For the purpose of this document, the term genetic conditions will also include congenital anomalies, which may be the result of a genetic alteration or abnormal embryonic development and can range from minor to severe, resulting in anomalies, debilitating disease, a physical or mental disability, or premature death. Genetics nursing practice may occur in any setting. Genetics nursing involves a personal relationship between client and nurse [2].

Recipients of genetics nursing practice may be individuals, families, communities, or populations including but not limited to:

· People in any stage of life (from birth to death) who have a genetic condition,

· Pre-symptomatic persons and families at risk for an inherited genetic condition,

· People susceptible to diseases which have a genetic component,

· Couples at risk for having a child with a genetic condition, and

· People who need or request genetic information.

Comprehensive genetics nursing practice is a dynamic process. It involves interdisciplinary collegiality and collaboration with genetics professionals and other healthcare professionals to serve a shared mission of helping individuals, families, communities, or populations reach their desired health outcomes [3].

ATTRIBUTES OF GENETICS/GENOMICS NURSING:

The four essential features of genetics nursing practice are:

1. Attention to the full range of human experiences and responses to the health and illness of clients related to discovery of and experiences with health issues related to genetics and genomics.

2. Application of genetics knowledge to the processes of nursing care, education, and research related to:

· Health education, promotion, maintenance, and restoration, optimization of health and abilities, prevention of illness and injury, alleviation of suffering, or a peaceful death;

· Making informed decisions related to genetic conditions or diseases and the use of available genetic technology and services; and

· Participation in a complex healthcare system.

3. Integration of objective data with knowledge gained from an understanding of the client’s subjective experience with or risk of a genetic condition or a chronic disease that has a genetic component and associated disability or morbidity.

4. A caring relationship that facilitates health and healing and considers the ethical, legal, and social issues associated with a genetic condition, genetic susceptibility to a disease, or malformation [4].

STANDARDS OF GENETICS/GENOMICS NURSING PRACTICE:

Standards are authoritative statements in which the nursing profession describes the responsibilities for which nurses are accountable.

Standard 1: ASSESSMENT:

The genetics nurse collects comprehensive data pertinent to the client’s health or the situation.

Measurement Criteria: The genetics nurse:

· Collects data in a systematic and ongoing process. Data may include but is not limited to: a three-generation family history, a pedigree constructed using standardized nomenclature, relevant hereditary and nonhereditary risk factors, or physical changes such as dysmorphology associated with a genetic or hereditary disease or condition, etc.

· Bases data collection and assessment on knowledge of human genetic principles, genetics services and resources, current genetics and nursing research, and relevant professional guidelines and recommendations.

· Involves the client, family, other healthcare providers, genetics experts, and the environment, as appropriate in holistic data collection.

· Identifies clients who would benefit from genetics services.

· Prioritizes data collection activities based on the client’s condition or anticipated needs or the situation.

· Uses appropriate evidence-based assessment techniques and instruments when possible in collecting pertinent data.

· Uses analytical models and problem-solving tools.

· Documents relevant data in a retrievable format.

· Ensures that data collection, storage, and management are consistent with privacy and confidentiality standards.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Initiates and interprets screening and diagnostic tests and procedures relevant to the client’s current status. These may include, but are not limited to, genetic tests, therapies, and diagnostic procedures [5].

Standard 2: DIAGNOSIS:

The genetics nurse analyzes the assessment data to determine diagnoses or issues.

Measurement Criteria: The genetics nurse:

· Derives the actual and potential diagnoses or issues based on assessment data.

· Validates the diagnoses or issues with the individual, family, community, group, and other health professionals when appropriate and feasible.

· Documents diagnoses, health problems, or issues in a manner that facilitates the determination of the expected outcomes and plan.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Systematically compares and contrasts clinical findings with normal and abnormal variations and developmental events in formulating a differential diagnosis.

· Utilizes complex data and information obtained during interview, examination, and diagnostic procedures in identifying diagnoses.

· Assists staff in developing and maintaining competency in the diagnostic process [6].

Standard 3: OUTCOMES IDENTIFICATION:

The genetics nurse identifies expected outcomes for a plan individualized to the client or the situation.

Measurement Criteria: The genetics nurse:

· Involves the individual, family, community, or group and other healthcare and genetics providers in formulating the expected outcomes when possible and appropriate.

· Derives culturally appropriate expected outcomes from the diagnoses.

· Considers associated risks, benefits, costs, current scientific evidence, and genetic information when formulating expected outcomes.

· Defines expected outcomes in terms of the client, client values, ethical considerations, culture, environment, or situation.

· Includes a time estimate for attainment of expected outcomes.

· Develops expected outcomes that provide direction for continuity of care.

· Modifies expected outcomes based on changes in the status of the client or re-evaluation of the situation.

· Derives expected outcomes that reflect current scientific knowledge in clinical application of human genetics research and technology, and use of genetics resources.

· Documents expected outcomes as measurable goals when possible.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Identifies expected outcomes that incorporate scientific evidence and are achievable through implementation of evidence-based principles.

· Identifies expected outcomes that incorporate cost and clinical effectiveness, client satisfaction, and continuity and consistency among healthcare providers and genetics services.

· Supports the use of clinical guidelines linked to positive client outcomes [7].

Standard 4: PLANNING

The genetics nurse develops a plan that prescribes strategies and alternatives to attain expected outcomes. Measurement Criteria: The genetics nurse:

· Develops an individualized plan considering the characteristics or situation of the client, family, community, or group (e.g., age, genetic status, genetic risk, culture).

· Develops the plan in conjunction with the client, family, group, healthcare team members and genetics experts, and others as appropriate.

· Includes strategies within the plan that address each of the identified diagnoses or issues, including genetics-related diagnoses or issues. These strategies may include, but are not limited to, strategies for promotion and restoration of health, prevention of illness, injury, and disease, and facilitating maximum wellness.

· Provides for continuity of care within the plan.

· Incorporates an implementation pathway or timeline within the plan.

· Establishes the plan priorities with the client, family, and others as appropriate.

· Uses the plan to provide direction to other members of the healthcare team.

· Defines the plan to reflect current statutes, rules, regulations, and standards.

· Integrates current scientific evidence, trends, and research affecting care in the planning process.

· Documents the plan of care in a manner that uses standardized language or recognized terminology.

· Considers the economic impact of the plan.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Identifies assessment, diagnostic, surveillance, and management strategies, therapeutic interventions, and risk-reduction plans that reflect current evidence and expert clinical knowledge.

· Selects or designs strategies to meet the multifaceted needs of complex clients.

· Includes the synthesis of clients’ values and beliefs regarding nursing and medical therapies within the plan [8].

Standard 5: IMPLEMENTATION:

The genetics nurse implements the identified plan. Measurement Criteria: The genetics nurse:

· Implements the plan in a safe, timely, and appropriate manner.

· Documents implementation and any modifications, including changes to or omissions from the identified plan.

· Uses evidence-based interventions and treatments unique to the client’s needs.

· Uses healthcare, community, and genetics resources and systems to implement the plan.

· Collaborates with nursing colleagues, genetics experts, and others as appropriate to implement the plan.

· Implements the plan using principles and concepts of project or systems management when appropriate.

· Fosters organizational systems that support implementation of the plan.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Facilitates utilization of systems, community, and genetics resources to implement the plan.

· Supports collaboration with nursing colleagues, genetics professionals, other disciplines, and others as appropriate to implement the plan.

· Incorporates new knowledge and strategies to initiate change in nursing care practices if it would improve desired outcomes or if desired outcomes are not achieved [9].

Standard 5A: COORDINATION OF CARE:

The genetics nurse coordinates care delivery for, but is not limited to, clients with genetic conditions, genetic predisposition, or complex diseases with a genetic component. Measurement Criteria: The genetics nurse:

· Coordinates implementation of the plan.

· Documents the coordination of care according to appropriate guidelines and addressing privacy and confidentiality.

· Provides coordination of services with consideration of the client’s informed choice and right to privacy, confidentiality, and nondiscrimination.

· Identifies available genetic support groups or networking services when appropriate.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Provides leadership in the coordination of multidisciplinary health care for integrated delivery of client care services. This includes, but is not limited to, coordination of genetics services or programs.

· Provides leadership in the coordination of genetics research and genetics education when appropriate.

· Synthesizes data and information to prescribe necessary system and community support measures, including environmental modifications.

· Coordinates system, community, and genetics resources that enhance delivery of care [10].

Standard 5B: HEALTH TEACHING AND HEALTH PROMOTION:

The genetics nurse employs strategies to promote health and a safe environment. Measurement Criteria: The genetics nurse:

· Provides health teaching that addresses such topics as healthy lifestyles, risk-reducing behaviors, developmental needs, activities of daily living, preventive self-care, management of health risk associated with genetic risk factors, and management of genetic conditions.

· Uses health promotion and health teaching methods appropriate to the client’s developmental level, learning needs, readiness, ability to learn, language preference, and culture.

· Seeks opportunities for feedback and evaluation of the effectiveness of the health teaching and health promotion strategies used.

· Uses genetics education and other strategies to promote health and safe environments and to minimize the potential effects of genetic alterations associated with disease risk.

· Provides genetics education that includes information on risk assessment, risk reduction, health promotion, and disease prevention strategies appropriate for persons at risk for or carrying a disease associated genetic alteration.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Synthesizes scientific and empirical evidence on learning theories, behavioral change theories, epidemiology, and other relevant theories and frameworks when designing health information and client education.

· Synthesizes scientific and empirical evidence on risk assessment, risk behaviors, risk reduction, surveillance and management of high risk populations, and other relevant information when designing health information and client education [11].

Standard 5C: CONSULTATION

The genetics nurse provides consultation to influence the identified plan of care, enhance the abilities of others, and effect change. Measurement Criteria: The genetics nurse:

· Synthesizes clinical data, theoretical frameworks, and evidence when providing consultation.

· Facilitates the effectiveness of a consultation by involving the client in decision-making and negotiating role responsibilities.

· Communicates consultation recommendations that facilitate change.

· Promotes awareness and discussion of ethical dimensions such as privacy, confidentiality, informed consent, truth telling, disclosure, and nondiscrimination during the consultation process.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Synthesizes data, information, theoretical frameworks, and evidence when providing consultation.

· Facilitates the effectiveness of a consultation by involving the stakeholders in the decision-making process.

· Communicates consultation recommendations that influence the identified plan, facilitate understanding by involved stakeholders, enhance the work of others, and effect change.

· Engages in consultation activities related to genetic health issues [12].

Standard 5D: PRESCRIPTIVE AUTHORITY AND TREATMENT:

The genetics nurse in advanced practice uses prescriptive authority, procedures, referrals, treatments, and therapies in accordance with the applicable national, regional, or local laws and regulations. Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Prescribes evidence-based treatments, therapies, and procedures considering the client’s comprehensive healthcare needs.

· Prescribes pharmacologic agents based on a current knowledge of pharmacology, physiology, and pharmacogenomics.

· Prescribes specific pharmacological agents and treatments based on clinical indicators, risk assessment, the client’s status and needs, and results of diagnostic and laboratory tests, including genetic tests.

· Evaluates therapeutic and potential adverse effects of pharmacological and non-pharmacological treatments, including appropriate genetic therapies.

· Provides individuals and families with information about intended effects and potential adverse effects of proposed prescriptive therapies, including the potential impact of genetic alterations on drug response.

· Provides information about costs, and alternative treatments and procedures, as appropriate.

Standard 5E: COUNSELING:

The genetics nurse uses counseling interventions to assist clients in understanding, adapting to, and using genetic information. Measurement Criteria: The genetics nurse:

· Uses active listening and therapeutic communication skills.

· Provides counseling that is anticipatory, therapeutic, facilitative, supportive, and sensitive.

· Provides counseling that is culturally sensitive, is consistent with the client’s values and preferences, promotes informed decision-making, and is based on mutually agreed-upon goals.

· Documents counseling interventions in a retrievable format in a way that protects client confidentiality and privacy.

· Respects client autonomy when counseling.

· Provides counseling in a nonjudgmental environment where relevant concerns and emotions can be expressed.

· Provides an environment in which the emotional and psychological impact of the genetic condition or risk can be explored safely.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Provides genetic counseling and education specific to genetic and genomic issues relevant to care. (Genetic counseling, for example, might include discussing the potential benefits and limitations of genetic testing for disease-associated mutations, alternatives to genetic testing, and the implications of potential genetic test results.)

· Integrates current scientific evidence, trends, and research affecting care in the genetic counseling process [13].

STANDARD 6: EVALUATION:

The genetics nurse evaluates progress toward attainment of desired outcomes. Measurement Criteria: The genetics nurse:

· Conducts a systematic, ongoing, and criterion-based evaluation of the outcomes in relation to the prescribed plan and proposed timeline.

· Includes the client, family, team members, genetics experts, and others as appropriate in the evaluation process.

· Evaluates effectiveness of the planned strategies in relation to client responses and the attainment of expected outcomes.

· Documents the results of the evaluation and any revisions in a systematic and standardized format.

· Uses ongoing assessment data to revise diagnoses, outcomes, plan of care, and implementation as needed.

· Disseminates the results to the client and others involved in the care or situation, as appropriate in accordance with appropriate standards of practice, laws or regulations, and ethical standards.

· Reflects awareness of and sensitivity to ethical, legal, and social issues in the evaluation process.

Additional Measurement for the Genetics Nurse in Advanced Practice: The genetics nurse in advanced practice:

· Evaluates the accuracy of the diagnosis and effectiveness of the interventions in relationship to the client’s attainment of expected outcomes.

· Synthesizes the results of the evaluation analyses to determine the impact of the plan on the affected individuals, families, groups, communities, institutions, networks, and organizations. In research involving human subjects this includes research participants.

· Uses the results of the evaluation analyses to make or recommend process or structural changes, including policy, procedure, or protocol documentation, as appropriate [14].

REFERENCES:

1. American Association of Colleges of Nursing (AACN). (1998). The essentials of baccalaureate education for professional nursing practice. Washington, DC: AACN.

2. Cook, S. S., Kase, R., Middelton, L., and Monsen, R. B. (2003). Portfolio evaluation for professional competence: Credentialing in genetics for nurses. Journal of Professional Nursing, 19(2), 85–90.

3. American Nurses Association (ANA). (2001). Code of ethics for nurses with interpretive statements. Washington, DC: Nursesbooks.org.

4. Middelton, L., Dimond, E., Calzone, K., Davis, J. and Jenkins, J. (2002). The role of the nurse in cancer genetics. Cancer Nursing 25(3), 196–206.

5. National Coalition for Health Professions Education in Genetics (NCHPEG) (2005). Core competencies in genetics essential for all health care professionals. http://www.nchpeg.org/.

6. Kirk, M., McDonald, K., Anstey, S., and Longley, M. (2003). Fit for practice in the genetics era: A competence-based education framework for nurses, midwives and health visitors. University of Glamoran, Wales: National Health Services Genetics Team. http://www.glam.ac.uk/socsschool/ research/gpu/FinalReport.pdf

7. Skirton, H., Barnes, C., Curtis, G., and Walford-Moore, J. (1997). The role and practice of the genetic nurse: Report of the AGNC working party. Journal of Medical Genetics 34, 141–7.

8. Burton, H. (2003). Addressing genetics: Delivering health. A strategy for advancing the dissemination and application of genetics knowledge throughout our health professions. Cambridge: Cambridge Genetics Knowledge Park.

9. Mizoguchi, M. (2004). Delivery of genetic services in Japan: How nurses are involved. Abstract presented at the annual conference (October) at the International Society of Nurses in Genetics, Toronto, Canada.

10. American Nurses Association. (2003). Nursing’s Social Policy Statement. Washington, DC: Nursesbooks.org.

11. Jenkins, J. F., Prows, C., Dimond, E., Monsen, R., and Williams, J. (2001). Recommendations for educating nurses in genetics. Journal of Professional Nursing 17(6), 283–290.

12. Forsman, I. (1994). Evolution of the nursing role in genetics. Journal of Obstetric, Gynecologic, and Neonatal Nursing, 23(6), 481–486.

13. Greco, K. E. (2006) Cancer screening in older adults in an era of genomics and longevity. Seminars in Oncology Nursing, 22(1), 10–19.

14. Ando, H., Takeda, Y., and Williams. (2001) Ethical issues in genetic nursing platform presentations. December. Japan Academy of Nursing Science, Kobe.

Received on 31.01.2018 Modified on 18.02.2018

Asian J. Nursing Education and Research. 2018; 8(4):543-548.

DOI: 10.5958/2349-2996.2018.00114.3