The Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators,
established by consensus, apply to all registered nurses.9
This resource assists the academic and continuing education nurse community to prepare the nursing workforce in genetics/genomics and provide a platform to build tools needed to achieve this goal. Guidance in curriculum design and course development is provided, enhanced by the addition of outcome indicators that consist of competency-specific areas of knowledge and clinical performance indicators. The following case scenarios illustrate the relevancy, opportunities, and possibilities for advancing oncology nursing competency in genetics/genomics and thus impacting quality patient care today and for the future.
Scenario: Cancer risk-assessment: preimplantation diagnosis
Kate’s mother, Ann, is undergoing treatment for breast cancer. As part of her work-up, Ann received genetic education and counseling, chose to undergo genetic testing, and was found to have a BRCA1 mutation. Kate was quite concerned about not only her mother when she heard the news, but also about her own risk of developing cancer so she also had genetic testing, which revealed that she did indeed have a BRCA1 mutation. This result was of most importance to Kate, as she and her husband were just starting the process of in-vitro fertilization, and they were concerned about whether or not she could pass the BRCA1 mutation onto a future child. When Kate accompanied her mother to the clinic for chemotherapy, she asked the oncology nurse about the possibility of a preimplantation genetic diagnosis (PGD), expressing interest in such testing if it was available. The nurse felt very uncomfortable discussing this subject with Kate because she recognized that she personally had limited knowledge about the availability of PGD and she also had ethical concerns about using PGD for cancer risk determination. She was aware of someone who could perhaps assist Kate in finding the answers to her questions and referred Kate to this resource.
In this scenario, the clinic oncology nurse has an opportunity to use genetic and genomic knowledge and skills to provide assistance to Kate and Ann. Essential nursing competencies that could make a difference to health outcomes might include:
- Recognizes when one’s own attitudes and values related to genetic and genomic science may affect care provided to clients
- Advocates for the rights of all clients for autonomous, informed genetic- and genomic- related decision-making and voluntary action
- Assesses clients’ knowledge, perceptions, and responses to genetic and genomic information
- Identifies ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues related to genetic and genomic information and technologies
- Facilitates referrals for specialized genetic and genomic services for individuals as needed.
Review of the competencies listed in may elucidate additional competencies that could apply in this situation. See Vadaparampil et al12
and Sagi et al13
for more information about preimplantation genetic diagnosis.
Scenario: Cancer risk-assessment: newborn screening and/or direct to consumer genetic testing
Jeremy was recently diagnosed with lymphoma and was being seen in the surgical clinic for a pre-operative evaluation. He was to have a lymph node removed as part of his preparation for a vaccine treatment. Jeremy’s wife is pregnant and he shares with the surgical oncology nurse that they have already named their soon to be born daughter, Lauren. He asks the surgical oncology nurse about whether or not he knows if any tests that assess risk for cancer are included in newborn screening testing and whether or not the sample taken for this testing is stored for future use. Jeremy would like to have information about Lauren’s risk for cancer earlier in her life. He hopes that if she has this information, she will have the opportunity to make better life decisions (i.e., better diet, earlier cancer screening) so that she will not have to experience what he is now going through. He also states that if newborn screening doesn’t include what he’s looking for, perhaps he’ll check out the direct to consumer tests (DCT) he has been hearing about. The nurse responds that he is not up to date on newborn screening testing but is willing to get in touch with the couples’ OB/GYN physician to clarify what information is available and determine what happens to the child’s sample when testing is completed. Additionally, because he is also unfamiliar with DCT, he decides to look on the internet for information that might be of help to Jeremy. He has heard that there may be issues related to clinical utility and validity of genetic test results and wants to read more about DCT before he discusses this information with Jeremy.
Essential nursing competencies that could make a difference to health outcomes in this scenario might include:
- Examine competency of practice on a regular basis, identifying areas of strength, as well as areas in which professional development related to genetics and genomics would be beneficial
- Identifies credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies specific to given clients
- Provides clients with credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies that facilitate decision-making
- Collaborates with healthcare providers in providing genetic and genomic healthcare
Refer to the competency listing in to select additional competencies that could also apply in this scenario, and read about the utilization of genetic/genomic information in lymphoma care,14
the Institute of Medicine meeting on newborn screening report15
, other screening of newborns and children,16
genomic medicine in children,17
and DTC genetic testing.18
Scenario: Genetic testing for identification of hereditary colon cancer diagnosis and treatment identification
Ken is being admitted to the hospital. During a routine colonoscopy he was found to have colon cancer and he is now being admitted for surgery. As part of the admission process, the in-patient oncology nurse asks about Ken’s family history. Ken mentions that his father, several of his aunts, and a few cousins have had cancer at early ages and that his father died at age 55 from colon cancer. The oncology nurse continues to collect family history details and suspects that Ken’s family may have a hereditary susceptibility to cancer. She remembers an announcement of a recent report on the Centers for Disease Control and Prevention (CDC) web site (http://www.cdc.gov/genomics/update/current.htm
) that provided recommendations for genetic testing in newly diagnosed individuals with colon cancer and shares that information with Ken’s doctor. The doctor then discusses with the nurse information about microsatellite instability (MSI) testing and immunohistochemical (IHC) testing of the tumor tissue upon surgical resection and also KRAS testing to assist in Ken’s treatment decisions. They discussed the implications of genetic evaluation for Ken and his family. If Ken is found to have a mutation that has contributed to his risk for colon cancer, his relatives might also benefit from having genetic testing. Relatives inheriting this mutation would benefit from colonoscopy screening at a younger age.
Essential nursing competencies for the oncology nurse in this situation that could make a difference to health outcomes might include:
- Incorporates genetic and genomic technologies and information into registered nurse practice
- Demonstrates ability to elicit a minimum of three-generation family health history information
- Constructs a pedigree from collected family history information using standardized symbols and terminology
- Collects personal health, and developmental histories that consider genetic, environmental, and genomic influences and risks
- Identifies clients who may benefit from specific genetic and genomic information and/or services based on assessment data
- Uses genetic- and genomic- based interventions and information to improve clients’ outcomes
Refer to the competency listing in to select additional competencies that could also apply in this scenario. See the EGAPP Recommendation Statement19
and article by Markowitz and Bertagnoli20
for more information.
Scenario: Genetic testing for melanoma treatment selection
Stacy, an elderly Asian lady, was being being seen in a Cancer Center to receive follow-up information from the melanoma biomarker testing performed to faciliate treatment decisions. Stacy speaks fairly good English but sometimes interrupts the oncology research nurse for further clarification as she explains the type of biomarkers evaluated, the meaning of genetic changes, and how when certain genetic changes are present in the tumor (i.e., the oncogene BRAF21
), there are medications that have been found to work best for those clients (i.e., PLX403221
). Stacy said she previously had a genetic test done at a local pharmacy for a medication she took when she had a blood clot, so she understands what the nurse is saying. But Stacy was concerned about whether the cost of this new targeted drug would be paid for by her insurance. The research nurse assesses Stacy’s understanding of the genetic test results and the treatment plan and assists her with investigating insurance coverage.
Essential nursing competencies for the oncology nurse in this scenario that could make a difference to health outcomes might include:
- Demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, and literacy, and preferred language
- Demonstrates an understanding of the relationship of genetics and genomics to health, prevention, screening, diagnsotics, prognostics, selection of treatment, and monitoring of treatment effectiveness
- Develops a plan of care that incorporates genetic and genomic assessment information
- Provides clients with interpretation of selective genetic and genomic information or services
- Collaborates with insurance providers/payers to faciliate reimbursement for genetic and genomic healthcare services