Genomics FAQ for Advanced-Practice Nurses: Nurse Practitioners
What is the role of a nurse practitioner as it relates to genetics and genomics?
All healthcare professionals, including nurse practitioners, must remain current in their knowledge about genomics to provide safe and effective care for patients.
The scope of practice for nurse practitioners related to genetic and genomic care includes but is not limited to the following:
- Assess, diagnose and create care plans based on precision health principles.
- Order genetic tests and provide pre- and post-test counseling.
- Provide individual and family risk information.
- Follow risk-based screening guidelines.
Nurse practitioners may also request consultation from, or refer patients to, genetic specialists for further workup and management, including discussing family history and genetic risk or providing information before or after genetic testing.
The following types of clinicians are considered specialists in genetics and genomics:
- Clinical geneticists (M.D.s and D.O. degrees certified by the American College of Medical Genetics).
- Nurse practitioners or physician assistants working in genetics clinics.
- Nurse practitioners with the Advanced Clinical Genomics Nurse credential (ACGN).
- Genetic counselors.
- Metabolic nutritionists.
These professionals can be located by searching their credentialing bodies (see links below) or by contacting the local healthcare network and inquiring about the referral and consultation process.
There are other health care professionals (e.g., pharmacists, pathologists) who may be able to provide genomics-related information and guidance to nurse practitioners, depending on their level of genetic and genomic training and expertise or additional certifications.
Anne L. Ersig, Ph.D., RN
University of Wisconsin-Madison School of Nursing
What types of genetic tests are available and for what purposes?
Genetic testing is generally categorized according to purpose and type.
Reasons for genetic testing include three broad categories:
- Diagnostic testing for a suspected condition.
- Predictive testing to determine if an individual is at risk of developing a condition.
- Screening to identify the need for preventive therapy.
Genetic tests include analyses of genes, chromosomes, or proteins.
Tests that focus on genes, also known as molecular tests, identify variants in one or more genes.
Tests can focus on single genes associated with a particular condition. Tests can also examine variants in panels that include multiple genes, or whole exome or whole genome sequences
Chromosomal tests analyze entire chromosomes to detect large scale changes such as duplications or deletions.
Gene expression tests analyze mRNA and can identify over- or under-expression of certain genes, which affects what proteins are produced.
Biochemical tests measure enzymes or the activity level of proteins to identify possible changes in DNA.
These tests can be used for different purposes, such as reproductive decision making, carrier testing, and testing of a fetus for a suspected genetic condition. Genetic tests can also provide additional information for condition management (e.g., breast cancer, medication adjustment).
The Genetic Testing Registry provides information about genetic conditions, available tests and testing laboratories.
How can nurse practitioners be prepared to respond when patients share direct-to-consumer genetic testing results?
Direct-to-consumer (DTC) genetic testing allows individuals to obtain and pay for genetic testing without the involvement of a healthcare provider. Consumers often pursue DTC testing to learn more about ancestry, but results may also include genetic variants associated with health conditions. Patients may choose to share their DTC results with their health care providers.
Education on the benefits and limitations of DTC testing is needed to ensure that advanced practice nurses can provide patients with appropriate and accurate information.
DTC genetic testing raises ethical concerns about genetic literacy, and the extent to which providers and patients understand the results. Without guidance from knowledgeable healthcare providers, the risk for life changing healthcare decisions may increase.
There is limited oversight and regulation of companies that offer DTC genetic testing and testing accuracy is not always known. Nurse practitioners may need to confirm clinically actionable DTC results through follow-up testing at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.
Interpreting DTC genetic test results can be complex. Many conditions are the result of the interaction of genetic and environmental factors, and individuals carrying certain genetic variants may not develop associated health conditions.
Trina K. Walker, DNP, APRN, FNP-C
Creighton University College of Nursing
What is the process for integrating genetic testing into practice?
Integrating genetic testing into clinical practice requires a cautious approach, as testing is not warranted in all situations.
Determine who may benefit from genetic testing.
- Individuals with an increased risk due to personal or family health history, those with signs and/or symptoms of specific genetic conditions, and those for whom testing would provide important information related to treatment.
- Provide appropriate pre-test counseling.
- Obtain informed consent.
Identify the appropriate genetic test and credible lab.
- Determine the appropriate genetic test. See "How can nurse practitioners be prepared to respond when patients share direct-to-consumer genetic testing results?" for additional details.
- Ensure the quality of laboratory testing of human samples intended for clinical use. Certified labs can be found at the Centers for Disease Control and Prevention website.
- Discuss potential out-of-pocket expenses and manage expectations.
Consider ethical, legal, and social impacts.
- The Genetic Information Nondiscrimination Act (GINA) offers some protection to individuals from health insurance and employment discrimination based on personal genetic information.
- Individual states have additional policies regarding use and protection of genomic information. See the Genetics Policy Hub website and our webpage on Genome Statute and Legislation Database for more information).
- Ethical considerations include respecting personal autonomy (e.g., the right “not to know” incidental or secondary findings as a result of genetic testing for another condition).
- Patients also may experience stigmatization, family discord, and psychological stress from genetic testing (e.g., identification of a hereditary cancer that increases risks for other family members may violate the “right not to know” principle).
Evaluate genetic test results.
Use guidelines to assist with interpretation of pharmacogenomic test results.
- Pharmacogenomic testing guidelines help clinicians understand how available genetic test results should be used to optimize drug therapy, rather than whether tests should be ordered.
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines
- Pharmacogenomic testing – PharmGKB is an NIH-funded resource that provides information about how human genetic variation affects response to medications.
- Nurse practitioners should determine whether their employers provide a mechanism for obtaining assistance with interpreting results such as from a genetics consultation service.
- NHGRI's Guide to Interpreting Genomic Reports: A Genomics Toolkit (CSER Consortium; February 2017) explains types of data found in whole genome sequencing or whole exome sequencing test reports.
- Jackson Laboratories (JAX) provides information on interpreting results of genetic tests for cancer.
- Develop a pricing model specifying insurance plan reimbursement parameters. Ascertain what credentials are required for billing privileges related to time spent on genetic testing and counseling. See Information on Coverage and Reimbursement of Genetic Tests.
- Develop relationship-based care to support patients and families at risk of or affected by a genetic condition.
- If appropriate, discuss the need for other family members to have genetic testing.
Establish relationships with genetics specialists who can provide more detailed genetic testing and/or counseling if the nurse practitioner determines that such actions are outside their scope of practice, or if more advanced care is needed (Carroll et al., 2019). Refer to "What is the role of a nurse practitioner as it relates to genetics and genomics?" for additional details.
Not all patients and families will need a referral to a genetic specialist.
Maintain knowledge of genetic conditions relevant to your clinical practice.
Two e-books from the National Library of Medicine provide up-to-date information:
- Genes and Disease is a collection of articles that discuss genes and the diseases that they cause.
- GeneReviews provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management and genetic counseling.
- UTHealth Adult Cardiovascular Genomics Certificate Program
For clinicians who want to sharpen their skills to recognize, diagnose and manage adult patients with genetically triggered cardiovascular disease.
- Pharmacogenomics Learning Series
For healthcare practitioners seeking educational activities about pharmacogenomics. The activities can be taken independently either free of charge or for continuing education credit depending upon the learner needs. The content is reviewed annually and is hosted online by the University of Pittsburgh.
How is genomics important for family history assessment?
Advanced practice nurses taking a family history use genetics in several ways:
Taking a three-generation family history for genetically related family members.
The first goal is to screen for diseases within the biological family.
The second goal is to identify patterns of inheritance for health conditions that may indicate a potential problem such as:
- Dominant traits.
- Sex-linked patterns.
- Recessive genes.
Identifying red flags in the family history such as:
- Multiple family members with same problem.
- Earlier onset of disease than might be expected.
- Disease in less commonly affected biological sex (e.g., breast cancer in men).
- Sudden deaths (e.g., Wolff Parkinson White, Long QT syndrome, ASHD and dyslipidemia).
- Ethnicity (see resources).
- Consanguinity (e.g., determine risk for recessive disease in offspring of closely related individuals).
- Early/recurrent pregnancy loss.
Prioritizing individuals for possible further genomic analysis.
Identifying those at increased need for primary and secondary prevention.
- Counseling for disease risk, prevention and detection.
- Genetic counseling for pregnancy planning and serious genetic conditions (e.g., Huntington disease).
- Selecting medications based on an individual’s genetic make-up. Knowing how some medications work for family members may help guide medication selection. Genetic testing may be performed to further optimize medication choices.
Educating patients about lifestyle changes and environmental factor modifications based on genetic family history.
- Promoting next steps for patient health.
- Improving health outcomes (determine screening timing and intervals).
- Maintaining and updating family history in collaboration with patients and families.
About genetic counselors – The National Center of Genetic Counselors
Advanced Clinical Genomics Nurse credential (ACGN) – Nurse portfolio credentialing commission (NPCC)
Campion MA, Goldgar C, Hopkin RJ, Prows CA, Dasgupta S. Genomic education for the next generation of health-care providers. Genetics in Medicine. 2019;21(11):2422-2430. doi:10.1038/s41436-019-0548-4.
Carroll JC, Allanson J, Morrison S, et al. Informing integration of genomic medicine into primary care: An assessment of current practice, attitudes, and desired resources. Frontiers in Genetics. 2019;10. doi:10.3389/fgene.2019.01189
Genetic Screening: Ancestry-Based – Boston Medical Center
Consensus Panel on Genetic/Genomic Nursing Competencies. Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators. 2nd ed. Silver Spring, MD: American Nurses Association; 2009.
Greco KE, Tinley S, Seibert D. Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees. Pittsburgh, PA: International Society of Nurses in Genetics (ISONG); 2012.
My Family Health Portrait – Centers for Disease Control and Prevention
Meet the Experts
Dr. Anne Ersig is an assistant professor in the School of Nursing at the University of Wisconsin-Madison. Her program of research seeks to improve the health and well-being of individuals with chronic health conditions who may experience substantial condition-related and general stress. She is particularly interested in the biological, physiological and epigenetic ramifications of high cumulative stress levels in individuals with chronic health conditions. Dr. Ersig also has a strong commitment to educating nurses in genetics and genomics. She has participated in several nursing-specific courses designed to improve genomic education for nurses. Dr. Ersig is the co-chair of the Inter-Society Coordinating Committee for Practitioner Education in Genomics Nursing Genomics Project group, which is developing resources for nurses with an interest in learning more about genomics and how it influences their nursing practice. For the past five years, she has contributed to the education of undergraduate and graduate nursing students at the University of Wisconsin-Madison by providing tailored and detailed guest lectures on genomics in nursing practice and research. This work has led her to her current project, which is developing a course in precision health and genomics for students at the University of Wisconsin-Madison.
Dr. Trina Walker is an assistant professor at the College of Nursing at Creighton University in Omaha, Nebraska. Dr. Walker has been extensively involved with developing pharmacogenomic content for prescribing professionals since the inception of her doctoral education at Creighton University in 2012. Her research trajectory includes the incorporation of pharmacogenomics into clinical practice via an interprofessional approach. Dr. Walker has developed webinars about pharmacogenomics in practice and continues to work on interprofessional projects at many levels. She is also dedicated to the integration of genomics into nursing curricula. Currently, she is working on several projects to better incorporate genomic content as it relates to nursing at her institution as well as globally. Dr. Walker is the chair of the Inter-Society Coordinating Committee for Practitioner Education in Genomics Nursing Genomics Project Group, which has devoted experts working to develop genomic nursing resources. Additionally, she is a member of the International Society of Nurses in Genetics, serving on the Education and Professional Practice Committees.
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to collaborate and develop educational resources. The opinions expressed in this resource do not reflect the view of all ISCC-PEG members, the National Institutes of Health, the Department of Health and Human Services or the United States government.
Last updated: June 5, 2023