How Can the Continued Study of Genetics and Genomics Promote Positive Patient Outcomes
Nurs Manage. Author manuscript; available in PMC 2016 May 27.
Published in final edited form as:
PMCID: PMC4883576
NIHMSID: NIHMS779578
The impact of genomics on health outcomes, quality, and safety
Kathleen A. McCormick
Principal/CEO of SciMind, LLC, in North Potomac, Md
Kathleen A. Calzone
Senior nurse specialist, research, Genetics Branch, at the National Institutes of Health's National Cancer Institute Center for Cancer Research in Bethesda, Md
The Human Genome Project reached its 25th anniversary on October 1, 2015. Since the project's launch, the implications of genomics science for healthcare and nursing practice have progressed steadily. In 2016, the new spending increase to the National Institutes of Health (NIH) includes $200 million targeted toward the Precision Medicine Initiative. This initiative is intended to accelerate the use of genetic variation in healthcare with specific emphasis on cancer therapeutics, including resistance, as well as establishing a 1 million person or more American research cohort that incorporates biospecimens, diet, lifestyle, and other health information, including links to the electronic health record (EHR) for those who consent.1
Why should nurse managers care about advances in genomics in healthcare? The impact of genomic information and technology has the potential to improve healthcare outcomes, quality, and safety, and result in cost savings. These outcomes are directly dependent on optimizing the use of information technology in the healthcare system, including the EHR.2 Individual genetic makeup and variation inform the risk of disease, including in the prenatal, newborn, childhood, and adult contexts; can be used as a screening tool; more precisely characterize health conditions; improve medication selection, including therapies that may be designed to target the underlying disease genomics; and inform management of symptoms.
So important are these new advances that the American Nurses Association added the concept of genetics/genomics to the second edition of its Nursing Informatics: Scope and Standards of Practice. These standards state that informatics nurses must be able to "incorporate genetic and genomic technologies and informatics into practice" and "demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language."3
Integration into informatics
In 2013, a team of genetic specialty nurses and physicians identified the influences of genetics and genomics across the healthcare continuum: preconception/prenatal care, newborn screening, disease susceptibility, screening/diagnosis, prognosis and therapeutic decisions, and monitoring disease burden and recurrence.4 (See Table 1.) A genetic analysis of a single patient can produce about 1 terabyte of data in a single encounter.5 Therefore, when considering that genomics may be analyzed before or at the time of diagnosis and multiple times during treatment, as well as being integrated with lab data, clinical observations, tissue biopsy and other morphologic data, and imaging data, the volume of new data is so large that nurses will need to develop roadmaps for incorporation into their current practice and EHRs.
Table 1
Genomics and the healthcare continuum4
| Healthcare continuum | Genomic application example | Clinical application example |
|---|---|---|
| Preconception/prenatal | Germline genetic testing for recessive conditions | Preconception testing for carrier status in prospective parents for genetic variants associated with recessive conditions, such as sickle cell disease, cystic fibrosis, and Tay Sachs disease18 |
| Cell-free fetal DNA from maternal plasma | Less invasive strategy compared with amniocentesis for assessing fetal genomic variations that have health implications such as fetal aneuploidy19 | |
| Newborn screening | State-mandated newborn screening; not all recommended screening tests are genetic tests, but they screen for indications of the need for further genetic evaluation | Approximately 4 million newborns screened annually using dried blood spot cards for conditions such as immunodeficiency disorder and congenital heart disease20 |
| Disease susceptibility | Germline genetic testing | Inherited cancer syndromes, such as hereditary breast ovarian syndrome, associated with mutations in BRCA1 and BRCA221 |
| Familial hypercholesterolemia associated with mutations in LDLR, APOB, and PCSK922 | ||
| Screening and diagnosis | Stool DNA testing | FDA-approved test that can be used for screening purposes instead of colonoscopy23 |
| Prognosis and therapeutic decisions | Targeted therapies | Therapy based on tumor genomic variation, such as epidermal growth factor receptor somatic mutation in non–small cell lung cancer and tyrosine kinase inhibitors24 |
| Tumor profiling | Basket trials, such as the Molecular Analysis for Therapy Choice, or NCI-MATCH, designed to identify somatic mutations/amplifications/translocations in patient tumor samples and assign patients to agents/regimens based on tumor genomics and not histology25 | |
| Pharmacogenomics | Individuals who carry HLA-B*57:01 have an increased risk of hypersensitivity to the antiretroviral drug abacavir26 | |
| Monitoring disease burden and recurrence | Pharmacogenomics | Symptom management such as pain control; CYP2D6 to determine whether an individual can convert codeine into the active metabolite morphine26 |
A roadmap for determining if genetic and genomic findings are clinically relevant is a project called ClinGen, an NIH-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genomic variants for use in precision medicine implementation. ClinGen is aimed at improving patient care through accelerating the understanding of genomic variation in healthcare through data sharing, knowledge curation, and technology development. Three questions are raised in considering whether a clinical variation is known: Is the gene associated with the disease? Is this variant causative? Is this information actionable? Working groups are establishing data models and standards for integrating these finding into EHRs.6
Work is also ongoing related to workflow and algorithm pathways for inclusion of genetic, genomic, and pharmacogenomic information into user-friendly clinical decision support (CDS) formats in the EHR. For example, St. Jude's Hospital has developed a model workflow with supportive CDS for pharmacogenomic tests into its EHR.7 In addition, several national initiatives have been established to facilitate strategies to integrate genomics into practice, including Implementing Genomics in Practice, or IGNITE, and the Electronic Medical Records and Genomics, or eMERGE, Network.
Another relevant implementation project is Displaying and Integrating Genetic Information Through the EHR, or DIGITizE. At the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health, several vendors discussed a vision for implementation into the EHR. The IOM is launching pilot studies with vendors that concentrate on pharmacogenomic examples. The DIGITizE working groups are also developing an implementation guide, the Logical Observation Identifiers Names and Codes database, and an Allele Registry with ClinGen.8
Relevant to nursing informatics is the need to ensure that the family history section in the EHR elicits a minimum of three generations and the physical assessment section includes genetic and environmental information and risk factors.9 Nursing informaticists need to identify current genetic and genomic information resources, such as the Pharmacogenomics Knowledge Base, or PharmGKB, website and the Clinical Pharmacogenetics Implementation Consortium guidelines, which should be included in EHRs. We also need to work on policies regarding access to genomic information stored within the EHR. Lastly, we need to understand the unique issues of privacy and security related to the use and potential misuse of genomic information.
Transitioning into nursing
Because genetics and genomics are becoming more relevant to the outcomes, quality, and safety of patient care, many nurse leaders are seeking to include genomic competencies in practice. Genetic/genomic competencies have been established for all RNs regardless of academic degree, clinical role, or specialty.10 Genetic/genomic competencies are also available for other disciplines, including medicine, pharmacy, and physician assistants.11–13
Nurse leaders have studied how to diffuse genetic and genomic information into nursing practice to improve the quality of care and safety. The study enrolled Magnet® hospital champion dyads (administrator/educator pairs) and trained them to develop, implement, and evaluate a 1-year education intervention program. Twenty-one Magnet hospitals and two control environments participated in the study. The hospitals utilized several online learning resources to improve their knowledge gap.
In order to take the next step to integrate knowledge of genomics into their healthcare environment, the champions identified policies that needed to be changed, developed, or expanded. Several of the environments engaged in staff development activities, including booklets, pocket cards, identifying consultation resources, and encouraging staff to participate in workshops. Other settings engaged in genetic grand rounds. Communication included several media approaches, but a very popular strategy was the 1-page monthly series called GeneSplash with up-to-date information on genetic and genomic facts for particular diseases.14,15 Currently, this group of study participants and researchers has partnered to build an online toolkit of all effective strategies used by both educators and administrators with an anticipated launch later in 2016.
Most of the Magnet hospital environments identified obstacles and challenges to moving forward. The study demonstrated awareness of innovation, but no integration of information into the EHR. One of the most influential champions was the CNO, who was identified as the most important leader requiring genetic and genomic competency sufficient enough to plan for future integration into practice and the financial costs identified as a barrier.
The resources in Table 2 supplement the multiple resources provided by the Genetics/Genomics Competency Center. They aren't inclusive, but are meant to facilitate continuing learning. Integration into practice does require a basic understanding of genetics, genomics, and pharmacogenomics. (See Table 3.) The message isn't to acquire a PhD in genetics/genomics or bioinformatics, but rather develop a sufficient underpinning in genetics/genomics based on your role to establish a roadmap within your environment to incorporate this technology and knowledge into clinical practice. The impact of these discoveries on healthcare decision making potentially affects a large proportion of your patients.
Table 2
Selected online resources
Table 3
Basic definitions
| Genetics: The study of individual genes and their impact on relatively rare single-gene disorders |
| Genomics: The study of all of the genes in the human genome together, including their interactions with each other, the environment, and other psychosocial and cultural factors |
| Pharmacogenomics: The study of the influences of genetic variation on medication and adverse events |
Putting it into practice
With the $1,000 genome in reach—the capacity to sequence a genome for $1,000, a cost comparable to other medical tests—the clinical utility of genetic/genomic information will continue to expand.4,16 This information means the right diagnosis and the right treatment at the right dosage in contrast to the historic approach that a given treatment works for most people with minimal toxicity. The greatest barrier to practice translation remains healthcare providers and the infrastructure within which they practice.17 This is a call to nurse leaders that health outcomes, quality, safety, and, ultimately, cost containment depend on maximizing genomics knowledge and accelerating its translation into practice.
Footnotes
The authors have disclosed no financial relationships related to this article.
Contributor Information
Kathleen A. McCormick, Principal/CEO of SciMind, LLC, in North Potomac, Md.
Kathleen A. Calzone, Senior nurse specialist, research, Genetics Branch, at the National Institutes of Health's National Cancer Institute Center for Cancer Research in Bethesda, Md.
References
2. Williams JK, Cashion AK, Shekar S, Ginsburg GS. Genomics, clinical research, and learning health care systems: strategies to improve patient care. Nurs Outlook. [e-pub Dec. 17, 2015]. pii:S0029-6554(15)00338-3. [Google Scholar]
3. American Nurses Association. Nursing Informatics: Scope and Standards of Practice. 2. Silver Spring, MD: American Nurses Association; 2015. [Google Scholar]
4. Calzone KA, Jenkins J, Nicol N, Skirton H, Feero WG, Green ED. Relevance of genomics to healthcare and nursing practice. J Nurs Scholarsh. 2013;45(1):1–2. [PubMed] [Google Scholar]
5. Savage N. Bioinformatics: big data versus the big C. Nature. 2014;509(7502):S66–S67. [PubMed] [Google Scholar]
7. Hoffman JM, Haidar CE, Wilkinson MR, et al. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. Am J Med Genet C Semin Med Genet. 2014;166C(1):45–55. [PMC free article] [PubMed] [Google Scholar]
9. Feero WG, Bigley MB, Brinner KM. New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc. 2008;15(6):723–728. [PMC free article] [PubMed] [Google Scholar]
10. American Nurses Association. Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators. 2. Silver Spring, MD: American Nurses Association; 2009. [Google Scholar]
11. Korf BR, Berry AB, Limson M, et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med. 2014;16(11):804–809. [PubMed] [Google Scholar]
12. Rackover M, Goldgar C, Wolpert C, Healy K, Feiger J, Jenkins J. Establishing essential physician assistant clinical competencies guidelines for genetics and genomics. J Physician Assist Educ. 2007;18:48–49. [Google Scholar]
14. Calzone KA, Jenkins J, Culp S, Caskey S, Badzek L. Outcomes from a method for introducing a new competency into nursing practice (MINC). Proceeding of the 2014 International Society of Nurses in Genetics. [Google Scholar]
15. Jenkins J, Calzone KA, Caskey S, Culp S, Weiner M, Badzek L. Methods of genomic competency integration in practice. J Nurs Scholarsh. 2015;47(3):200–210. [PMC free article] [PubMed] [Google Scholar]
16. Hayden EC. Technology: the $1,000 genome. Nature. 2014;507(7492):294–295. [PubMed] [Google Scholar]
17. Oishi SM, Marshall N, Hamilton AB, Yano EM, Lerner B, Scheuner MT. Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach. Genet Med. 2015;17(11):919–926. [PubMed] [Google Scholar]
18. Leo MC, McMullen C, Wilfond BS, et al. Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. Am J Med Genet A. 2016;170(3):574–582. doi: 10.1002/ajmg.a.37477. [PMC free article] [PubMed] [CrossRef] [Google Scholar]
19. Wou K, Feinberg JL, Wapner RJ, Simpson JL. Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold? Expert Rev Mol Diagn. 2015;15(8):989–998. [PubMed] [Google Scholar]
20. DeLuca J, Zanni KL, Bonhomme N, Kemper AR. Implications of newborn screening for nurses. J Nurs Scholarsh. 2013;45(1):25–33. [PubMed] [Google Scholar]
21. Rosenberg SM, Ruddy KJ, Tamimi RM, et al. BRCA1 and BRCA2 mutation testing in young women with breast cancer. JAMA Oncol. e-pub Feb. 11, 2016. [PMC free article] [PubMed] [Google Scholar]
22. Troeung L, Arnold-Reed D, Chan She Ping-Delfos W, et al. A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice. Heart. [e-pub Feb. 10, 2016]. pii:heartjnl-2015-308824. [PubMed] [Google Scholar]
23. Imperiale TF, Ransohoff DF, Itzkowitz SH, et al. Multitarget stool DNA testing for colorectal-cancer screening. N Engl J Med. 2014;370(14):1287–1297. [PubMed] [Google Scholar]
24. Lee CK, Brown C, Gralla RJ, et al. Impact of EGFR inhibitor in non-small cell lung cancer on progression-free and overall survival: a meta-analysis. J Natl Cancer Inst. 2013;105(9):595–605. [PubMed] [Google Scholar]
25. Redig AJ, Jänne PA. Basket trials and the evolution of clinical trial design in an era of genomic medicine. J Clin Oncol. 2015;33(9):975–977. [PubMed] [Google Scholar]
Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4883576/
0 Response to "How Can the Continued Study of Genetics and Genomics Promote Positive Patient Outcomes"
Post a Comment