The Journal of Continuing Education in Nursing

Original Article 

A Genetics Learning Program for Nurses Caring for Children Treated With Ex Vivo Autologous Gene Therapy

Lucinda Williams, DNP, RN, PNP, NE-BC; Colleen Dansereau, MSN, RN, CPN; Bethany Trainor, BSN, RN, CCRP

Abstract

As our growing knowledge of genetics and genomics continues to inform, change, and customize health care, an understanding of genetics and genomics is now central to up-to-date and proficient nursing practice. There is a growing need for relevant nursing educational programs that aid practicing nurses in securing genetics/genomics knowledge and an understanding of gene therapy. This article describes a day-long, evidence-based, hands-on genetics learning program developed specifically for practicing nurses caring for children enrolled in ex vivo gene therapy clinical trials. [J Contin Educ Nurs. 2019;50(5):218–227.]

Abstract

As our growing knowledge of genetics and genomics continues to inform, change, and customize health care, an understanding of genetics and genomics is now central to up-to-date and proficient nursing practice. There is a growing need for relevant nursing educational programs that aid practicing nurses in securing genetics/genomics knowledge and an understanding of gene therapy. This article describes a day-long, evidence-based, hands-on genetics learning program developed specifically for practicing nurses caring for children enrolled in ex vivo gene therapy clinical trials. [J Contin Educ Nurs. 2019;50(5):218–227.]

The decoding of the human genome in April 2003 fast-forwarded our understanding and progress in the fields of genetics and genomics. The potential was ignited for customizing individual approaches to health promotion, disease prevention, treatments, and drugs to individuals' genetic data. Genetics is the study of genes and their roles in inheritance (Guttmacher, Collins, & Drazen, 2004). Genomics is the study of all genes belonging to a person and how they connect and interact with an individual's environment (Guttmacher, Collins, & Drazen, 2004).

The ongoing work that has transpired since the original decoding of the human genome has furthered our understanding of the genetic/genomic basis of health and illness. This has led to our current understanding that most health conditions have a genetic or genomic element that is further fostered by environmental, lifestyle, and other factors (Guttmacher & Collins, 2003). In 2013, of the top 10 leading causes of death in the United States, nine had a genetic and/or genomic component, with heart disease and cancer making up the majority of mortalities (Heron, 2016). Many pediatric rare diseases have an underlying genetic cause (Institute of Medicine, 2010). As knowledge of genetics and genomics continues to inform and change nursing practice, as well as approaches to health prevention, promotion, screening, and treatment, the public will expect and assume that nurses are incorporating knowledge of genetics and genomics into their practice (Calzone et al., 2010).

Knowledge GAP about Genetics and Genomics among Practicing Nurses

Today, there is still much evidence that substantial nursing workforce genetic/genomic knowledge deficits remain (Calzone, Jenkins, Culp, Caskey, & Badzek, 2014). With nurses making up the largest professional group of the health care workforce in the United States, the vision of individualized, personalized, predictive health care will be blunted without a nursing workforce that is knowledgeable and competent in genetics/genomics (Jenkins & Calzone, 2012; Read & Ward, 2016).

The genetics knowledge gap among practicing nurses is recognized by a variety of professional organizations, including the American Association of Colleges of Nursing, Sigma Theta Tau, the American Nurses' Association, The International Society of Nurses in Genetics, and others, who have called for and continue to call for more education for faculty, students, and practicing nurses (De Sevo, 2013; Jenkins & Calzone, 2012; Read & Ward, 2016). Data support that nurses lack knowledge and comfort in the area of genetics and genomics. A systematic review conducted by Godino and Skirton (2012) synthesized the current evidence regarding nurses' knowledge of genetics documenting that their knowledge of genetics and genomics is not adequate but that nurses are open to genetics education. However, education should be in a form that allows them to apply genetic principles to their everyday nursing practice, which is more than acquiring knowledge of basic genetics (Godino & Skirton, 2012). Given the size of the challenge of retrofitting the nation's nursing workforce with genetics and genomics competencies, there is room for universities, professional nursing organizations, and health care institutions employing nurses to offer genetics/genomics learning opportunities with the goal of providing current and excellent nursing care.

Many obstacles to genetics/genomics competence exist for today's practicing nurses. First, molecular processes happen through chemical interactions. These processes occur at the cellular level and are viewed as abstract processes by nurses who do not readily see the connections to actual clinical nursing practice (Read & Ward, 2016). Second, the average age of the nursing workforce is 50 years (American Nurses Association, 2014) and many of these practicing nurses received no genetics education or only simple Mendelian genetics in their undergraduate programs. Finally, nursing faculty in schools of nursing are often poorly prepared to teach genetics/genomics content (Jenkins & Calzone, 2012; Read & Ward, 2016). Arming today's practicing nurses with essential genetics and genomics knowledge and competencies requires the development and offering of nurse-tailored, relevant, genetics educational programs (Godino & Skirton, 2012) close to the point of care. As steady advances continue in stem cell technology and gene transfer, the number of diseases being treated with gene therapy will continue to expand, as will the number of nurses who will be involved in the care of patients undergoing gene therapy requiring knowledge of genetics and genomics.

An Exemplar: Ex Vivo Autologous Hematopoietic Stem Cell Gene Therapy

According to Fung and Gerson (2016):

Gene therapy describes treatment resulting from the expression of a transferred gene known as a transgene into diseased or other cells by an engineered vector which serves to transport a gene (transgene). Once inside the cell, the transgene directs the synthesis of a therapeutic protein that can complement a genetic deficiency or confer upon the cell a desired function.

Ex vivo (outside of the body) autologous hematopoietic stem cell (HSC) gene therapy is one type of gene therapy that is a promising therapeutic option for some monogenic diseases of the blood and immune system, and some storage diseases (Bigger & Wynn, 2014). Ex vivo autologous HSC gene therapy is a treatment that involves the return of the patient's own stem cells that have been collected from their bone marrow or from their peripheral blood and genetically corrected to reestablish the production of functional blood cells in patients whose bone marrow or immune system is damaged or not functioning. Customarily, patients receive conditioning prior to the stem cell transplant. Conditioning involves the patient receiving chemotherapy and serves to make room in the bone marrow for the reinfused, genetically corrected stem cells to grow and produce new properly functioning blood cells. Conditioning eliminates the patient's existing cells and cells in development in the bone marrow, allowing the reinfused genetically corrected stem cells to replace the entire blood and immune system of the patient.

Ex vivo autologous HSC gene therapy is being tested as treatment for a limited number of inherited diseases that are characterized by a defective or absent blood cell lineage. Blood cell lineage is a term that simply refers to a variety of cell types that are derived from stem cells, including red blood cells, platelets, macrophages, B-lymphocytes, and T-lymphocytes. B- and T-cells are important to proper immune function and are essential for fighting infections from bacteria, viruses, fungus, and parasites, as well as in the development of antibodies. The various blood cells can be produced by functional progenitor cells (the immature cells before they differentiate into red blood cells, white blood cells, platelets) derived from a patient's own cells that have been subjected to ex vivo gene transfer to correct the deficiency (Naldini, 2011). After the cells are collected from the patient, they are placed in culture medium that allows the cells to multiply in a highly regulated laboratory environment. A vector is a modified virus that carries or transports the therapeutic gene into the collected cells of the patient. The vector is applied to the collected cells and the product is then reinfused back into the patient. With the subsequent engraftment of the genetically corrected HSCs or progenitor cells, these corrected cells proceed to differentiate into the various cell lines and self-renew, providing the sustained production of corrected, functional cells for the lifetime of the child (Naldini, 2011, p. 303).

Ex vivo autologous HSC gene therapy is being studied for efficacy and safety in the setting of clinical trials in a group of life-threatening pediatric monogenic diseases characterized by defective hematopoietic cells because it holds the potential for improvements over the standard care for these illnesses, allogeneic hematopoietic stem cell transplantation (HSCT). Ex vivo autologous HSC gene therapy offers several potential improvements over standard HSCT. First, all patients can donate their own cells for ex vivo gene therapy, whereas with standard transplant only approximately 25% of children requiring an HLA-matched sibling donor will have a match. Second, using patients' own cells rather than those from another person eliminates the risk of graft versus host disease, a chronic disease associated with allogeneic (cells for a donor rather than from the patient) HSCT, which can be life threatening. Third, there is a reduced risk of graft rejection, which may allow less toxic conditioning regimens before the transplant (Naldini, 2011). Finally, in some cases the genetically engineered cells may correct other deficient cells in a process termed cross-correction (Naldini, 2011; Fratantoni, Hall, & Neufield, 1968). Cross-correction occurs when engrafted functioning leukocytes secrete a deficient enzyme that is taken up by deficient neighboring cells and corrects cell functioning in defective cells (Naldini, 2011; Wynn, 2011).

Nurses at Boston Children's Hospital and several other pediatric institutions were (or currently are) caring for children with this potentially improved, curative therapy for several primary immunodeficiencies. These include X-linked severe combined immunodeficiency disease (X-SCID), adenosine deaminase deficiency SCID (ADA-SCID), chronic granulomatous disease (CGD), and Wiscott-Aldrich Syndrome, along with one storage disease, adrenoleukodystrophy. In addition, plans are being developed for using ex vivo autologous HSC gene therapy for the treatment of other diseases in children such as sickle cell disease and thalassemia. With each disease that is successfully treated with gene therapy, the therapy is becoming more mainstream for a growing number of diseases.

The actual procedure and care of a child receiving ex vivo autologous HSC gene therapy was not unfamiliar to the group of hematology/oncology/stem cell transplant nurses at Boston Children's Hospital in that the conditioning chemotherapy regimens, bedside reinfusion of cells, and postinfusion nursing care outlined in study protocols closely mimic standard care in pediatric autologous HSCT. However, to provide optimal nursing care such as patient education and family teaching, there was a pressing need for the nursing staff to gain additional genetics and genomics knowledge.

Developing a 1-Day Genetics Course

From the outset, it was recognized that it was well beyond the scope of this 1-day program to arm this cohort of nurses with all or even most of the competencies in genetics/genomics that ideally practicing nurses would today have that are outlined in Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics (Lewis, Calzone, & Jenkins, 2006). The planning group anticipated that practicing nurses would attach to the molecular genetics content to the degree to which it was made relevant to their actual day-to-day practice, emphasizing the integration of science and practice (Frazier, Meininger, Halsey Lea, & Boerwinkle, 2004; Godino & Skirton, 2012; Maradiegue, Edwards, Seibert, Macri, & Sitzer, 2005). The program planners believed that this cohort of nurses would be interested in attending a genetics learning program because they were caring for children enrolled in ex vivo gene therapy trials and the institution's portfolio of gene therapy trials was anticipated to expand. Throughout the planning process, careful consideration was given to ensure that the content and teaching methods supported the application of genetics knowledge to actual nursing practice. To make it achievable for this entire core of the institution's hematology/oncology/stem cell transplant nurses to attend the learning program, it was offered multiple times and on site.

The nurse team that initially envisioned this education program believed that the content was best taught by experts that are customarily involved in caring for children and their families with a hereditary predisposition syndrome for developing cancer and genetically linked hematologic and immunodeficiency disorders. The interdisciplinary team that was invited to serve as the program faculty fully participated in its planning. The team was composed of a nursing director who oversees the institution's Experimental Therapeutics unit, the nurse manager of the institution's Gene Therapy Program, an experienced clinical research nurse, a pediatric oncologist who oversees the Pediatric Cancer Genetic Predisposition Program, a pediatric stem cell transplant physician from the institution's Gene Therapy Program, a psychologist, and two genetic counselors who work with children with a hereditary predisposition for developing cancer. Learning objectives were developed that aligned with the intentions of the day-long program (Table 1). Nursing contact hours were secured as a means of incentivizing participation.

Participants' Evaluation of Achieving Learning Objectivesa

Table 1:

Participants' Evaluation of Achieving Learning Objectives

The objectives of the program were that nurses would (a) identify common genetics/genomics terminology, (b) accurately describe the basic building blocks and genetics dogma of DNA to RNA to protein, (c) discuss the heritable nature and genetic defects in the diseases of children being treated with ex vivo gene therapy, (d) correctly describe the difference between gene therapy involving somatic versus germ line cells, (e) describe how ex vivo gene therapy works, (f) recount the historical and current risks associated with somatic gene therapy (Kohn, Sadelain, & Glorioso, 2003), (g) describe the psychosocial burden associated with having a child with a heritable disease, and (h) discuss the role of genetic testing and counseling and identify families who might be advantaged by genetic counseling.

Theoretical Framework

Malcolm Knowles' andragogy model of adults as learners was the learning theory that provided the framework for developing the education program (Knowles, 1970). Knowles influenced education for adults when he synthesized the concepts of how adults learn differently from children (Merriam, 2001). Andragogy, or the theory of adult learning, sets out key assumptions about adults as learners (Table 2). According to Knowles' theory, the instructor acts as a facilitator of a process that involves stages of preparing and supporting the student: preparing the student for self-direction, establishing a climate of learning, creating mechanisms for joint planning, knowing and satisfying learning needs, formulating learning objectives, designing and conducting learning experiences, and evaluating and promoting self-evaluation (Knowles, Holton, & Swanson, 2005). The six assumptions from Knowles' theory (Table 2) were integrated into the planning of the day-long genetics learning program for practicing nurses (Knowles, 1986).

Assumptions of Adult Learninga

Table 2:

Assumptions of Adult Learning

Teaching Methods

The decision to offer an interactive workshop was informed, in part, by a study by Kirk, Tonkin, and Birmingham (2007) underscoring that nurses preferred interactive workshops as their preferred learning approach to genetics. In a survey conducted by Metcalf, Haydon, Bennett, and Farndon (2008), nurse midwives ranked workshops as the most ideal learning approach for genetics education, followed by lectures.

Models/manipulatives were chosen as a teaching method because active learning experiences have been shown to be particularly effective when physical concepts are difficult to visualize and understand (Asokanthan, 1997; Lewis & Williams, 1994). Cell processes and molecular activity that occur through chemical reactions are abstract processes and difficult to convey solely through didactic presentations. A knowledge retention study by Stice (1987) demonstrated that as much as 90% of knowledge is retained when concrete learning experiences are used, compared with 20% when only an abstract conceptualization is used. Modeling provided a way for nurses to visualize the three-dimensional molecular biology concepts and to construct the abstract, sequential, and molecular activities and concepts in a way that would be memorable. Participants modeled the transcription of gene deletion and mutations that lead to the translation of defective proteins that result in specific diseases.

When applying the basic genetic concepts to modeling, participants worked in teams of two using specially designed LEGO® molecular models to make and execute the basic principles of genetics (i.e., DNA to RNA, RNA to protein). The molecular models were made from LEGO bricks that were modified to emulate DNA and RNA nucleotides, amino acids, and tRNA. The bases of the models differed in size, representing their chemical structures, and each base had a designated color for easy recognition. Base pairings of nucleotides were accomplished through a ball-and-socket connection that allows the DNA models to twist and demonstrate the double helix structure. These refined models were developed and are available through Kathy Vandiver, PhD, Director, Community Outreach Education and Engagement Core, Massachusetts Institute of Technology's Center for Environmental Health Sciences.

Program Organized into Three Segments

The day-long program was organized into three parts: (a) genetic building blocks; (b) clinical genetics and genetic testing, diseases treated with ex vivo autologous gene therapy, and how the therapy works; and (c) genetic counseling and the psychosocial/ethical implications of genetic findings (Table 3).

Program Agenda

Table 3:

Program Agenda

Part I, the first 90 minutes of the program, comprised a short didactic presentation about basic genetics, followed by pairs of participants working together modeling basic genetic building blocks (DNA to RNA to protein) with specially designed LEGO blocks. Figure 1 illustrates two of the nurse participants working together to model basic genetic concepts with the specially designed LEGO blocks. Next, the basic genetic concepts that participants had modeled were brought to life by the presentation of highly sophisticated Howard Hughes Medical Institute video animations that depicted the complex sequence of chemical processes involved in DNA replication, as well as genetic mutations (publicly available at http://www.hhmi.org/biointeractive/dna-replication-advanced-detail).

Participants working with manipulatives.

Figure 1.

Participants working with manipulatives.

Part II of the workshop was designed to transition the basic genetics content into the world of clinical genetics using disease scenarios with which the nurse participants were familiar. The direct application of the more foreign molecular learnings to the more familiar world of clinical care was designed to link and cement the basic genetics content into a context that would be memorable for nurses. Retinoblastoma, X-SCID, CGD, sickle cell disease, and Wiskott-Aldrich Syndrome were diseases that were relevant to the audiences used to illustrate the basic genetic defects and the workings of ex vivo gene therapy.

Part III of the program focused on genetic testing, genetic counseling, ethical issues and the associated psychosocial aspects, and impact of genetic findings. Case histories were presented that highlighted the medical, psychosocial, and familial issues that can arise in the genetic testing process, as well as issues confronted by families when a child has been diagnosed with a genetic disease. A parent panel shared personal stories of having a child or children with a serious genetic disease and the challenges and ethical issues with which their families are confronted. Real families sharing their stories proved to be a powerful teaching method that enhanced audience interest and the relevant application of the abstract concepts and content of the day.

A flash drive loaded with the PowerPoint® presentations from the program along with select journal articles and links to educational resources (Table 4) was provided to each participant for future reference or sharing with colleagues. Each subsequent offering of the program was limited to 20 participants so that the small program faculty could be available to coach participants during the portion of the program where they were modeling the basic molecular activities with the LEGO manipulatives.

Educational Resources and Websites

Table 4:

Educational Resources and Websites

Program Evaluation/Summary

Participants' academic preparation ranged from Bachelor of Science in Nursing to Master of Science in Nursing, and years of nursing practice varied from those who had less than 1 year of experience to nurses who had practiced for decades. The participants completed a program evaluation at the end of the day, ranking achievement of 14 specific learning objectives on a Likert-type scale with ranking options of strongly disagree, disagree, neutral, agree, or strongly agree (Table 1). The vast majority of participants ranked achievement of each of the learning objectives as agree or strongly agree, reflecting they believed they had an increased knowledge of genetics (Table 1). Evaluating participants' knowledge application and knowledge retention were not built into this learning program in that it exceeded the available time and resources of the members of the planning committee. However, it is an important component and would strengthen the evaluation process for those considering offering a similar program at their own institution. A short questionnaire built in REDCap and e-mailed following the learning program at defined intervals could glean important information about the short- and long-term impact of the program on participating nurses' knowledge, skill, or practice. Likewise, assessing participants' pre- and postprogram genetics knowledge would have strengthened the program evaluation process.

At the completion of the third offering of the program, 37% of the institution's inpatient and outpatient hematology/oncology/stem cell transplant nurses had attended. In order to accommodate a nursing unit's or a program's entire nursing staff, planners need to assume the educational opportunity will need to be offered multiple times. For each of the three sessions, a few participant openings remained (each offering limited to 20 enrollees) that were not filled by the target audience. These openings were filled by interested nurses from across the institution. The planning group has considered adding a second day to the program in the future to be able to integrate additional content such as taking a three-generation genetic history, along with the opportunity to actually take a three-generation genetic history, additional information about personalized, predictive health care, in vivo gene therapy, and additional content regarding ethical issues.

A program such as this is likely scalable to educate a larger cadre of nurses in a cost-effective manner. If activities such as modeling of basic genetic building blocks are used with a larger group of learners, the size of the program faculty would need to be scaled up to provide the real-time feedback and guidance to learners during modeling exercises. Feedback from participants of the initial program resulted in participants in subsequent offerings receiving a link (via e-mail) to a journal article about basic genetics (Lea, 2009) 1 week prior to the program so that those who wanted to refresh their memory of basic genetic concepts had the opportunity. Program planners partnering with faculty from schools of nursing that have nursing students based at their institution for clinical rotations should consider inviting students as a way to integrate genetics/genomics knowledge into their clinical experiences, ultimately helping to prepare the next generation of nurses in genetics and genomics.

Developing and Offering a Nurse-Directed Genetics Learning Program at Your Institution

Developing in-house genetics education programs for practicing nurses is feasible and customizable to the type of diseases treated and gene therapies being used. Moreover, it is a cost-effective approach to retrofit today's practicing nurses with knowledge of genetics/genomics and gene therapies compared with sending an entire staff of nurses to external workshops or conferences. It would not be unusual to budget $1,500.00 to $2,000.000 per nurse for the cost of the program registration fee, travel and lodging, food, and ancillary expenses such as taxis. This same sum of money can be used to finance the development and offering of an in-house genetics learning program for a unit or program's entire nursing staff. The cost of this program was modest. All program faculty donated their time and there was no cost associated with using the institution's facility or space or with securing nursing contact hours. There was no charge for using the modeling materials provided by Dr. Vandiver. Use of the Howard Hughes videos was free of charge. Each offering of the program cost $620.00, with the majority of the expense being for breakfast, lunch, and afternoon snacks provided. The cost of flash drives and three-ring binders for printed materials was included in the $620.00. An educational award of $1,000.00 was sought and provided by an outside vendor that was applied to the cost of the program materials and meals for participants.

Key to the success of this program was engaging the help of an interdisciplinary team of experts across the trajectory of program planning and implementation. These individuals, all with genetic expertise but from diverse professional backgrounds, were not only well prepared to teach the content but delighted to share their experiences with the clinical nursing staff.

If your institution is associated with a division or department of genetics, there may be content experts such as genetic counselors who would be happy to partner with nurses developing a genetics learning program, often at no cost. No only can staff from genetics departments offer guidance on developing appropriate content for your facility, but often they are well acquainted with learning tools and helpful websites. Should program planners be associated with an institution where there is not a genetics department, contacting local colleges and universities in order to liaise with faculty who teach genetics may be an option for securing the needed content experts. Reaching out to professional organizations such as the International Society for Nurses in Genetics ( http://www.isong.org/) may unearth local professionals and resources that could prove helpful in your program planning. Nurse educators in your own institution can help with acquiring nursing contact hours for participants and offer assistance with program planning logistics. Approaching your nursing staff development department to help with developing the program may lend additional resources to developing a genetics program for nurses.

A simple Google search ( https://www.google.com) will result many examples of genetics manipulatives that are both affordable and adaptable to this type of learning program. A plethora of websites (Table 4), teaching tools, and videos can be accessed at no cost so that those developing the program do not need to create all the educational content and therefore the program is more affordable. If there is a desire to provide learning materials, meals, and snacks at no cost to participants, securing a modest amount of funding from an external or internal source is both feasible and achievable.

Engaging nursing unit managers in developing the learning program will help in securing staff participation in the education while managing nurse staffing of day-to-day patient care. Informing nursing unit leaders well in advance of the program dates can help them manage the scheduling of their nursing staff to optimize attendance.

Future Directions

Several challenges exist to the program described in this article, such as the need to repeat the program multiple times, which was required to preserve patient care on several inpatient units while aiming to educate a program's entire nursing staff. An approach other than a single-day program would be required to help practicing nurses secure all the nursing competencies outlined in the Consensus Panel on Genetic/Genomic Nursing Competencies (2009). Developing a series of genetics learning sessions would be an enhancement to this program and could aid nurses in securing a broader base of genetics competencies. However, this would be a larger undertaking. Offering genetics learning programs close to the point of care stands to allow educators to shape the offerings to the particular nursing audience and practice setting so that the content and learning experience is in context for nurses serving various patient populations at different points along the health care continuum. There are health care institutions that employ hundreds and even thousands of nurses. Offering genetics education close to the point of care in health care institutions stands to potentially engage large cohorts of nurses, particularly if the education is required by their employer.

Genetics education for practicing nurses is an area that could greatly profit from future nursing research and is important, given the size of the undertaking of arming today's practicing nurses with genetics and genomics knowledge and competencies. There is much to discover about educating busy clinicians with genetics content that they find engaging, useful, and relevant for their practice environment and patient populations. Nursing research that informs genetics and genomics education for practicing nurses is critical to the timely implementation of the advances and discoveries made in genetics and genomics reaching the patients for whom they are intended.

References

  • American Nurses' Association. (2014). The nursing workforce 2014. American Nurses Association, 71(156), 57. Retrieved from https://www.nursingworld.org/~4afac8/globalassets/practiceandpolicy/workforce/fastfacts_nsgjobgrowth-salaries_updated8-25-15.pdf
  • Asokanthan, S.F. (1997). Active learning methods for teaching dynamics: Development and implementation. In EP Innovations (Ed.), Teaching and learning in an era of change: Vol. 3. Proceedings of Frontiers in Education 1997 27th Annual Conference (pp. 1349–1353). Pittsburgh, PA: Stipes.
  • Bigger, B.W. & Wynn, R.F. (2014). Novel approaches and mechanisms in hematopoietic stem cell gene therapy. Discovery Medicine, 17(94), 207–215.
  • Calzone, K.A., Cashion, A., Feetham, S., Jenkins, J., Prows, C.A., Williams, J.K. & Wung, S.F. (2010). Nurses transforming health care using genetics and genomics. Nursing Outlook, 58, 26–35. doi:10.1016/j.outlook.2009.05.001 [CrossRef]
  • Calzone, K.A., Jenkins, J., Culp, S., Caskey, S. & Badzek, L. (2014). Introducing a new competency into nursing practice. Journal of Nursing Regulation, 5, 40–47. doi:10.1016/S2155-8256(15)30098-3 [CrossRef]
  • Consensus Panel on Genetic/Genomic Nursing Competencies. (2009). Essentials of genetic and genomic nursing: Competencies, curricula guidelines, and outcome indicators (2nd ed.). Silver Spring, MD: American Nurses Association.
  • DeSevo, M. (2013). Competency of nurse educators in genetics/genomics knowledge. Journal of Nursing Education and Practice, 3(1), 123–129.
  • Fratantoni, J.C., Hall, C.W. & Neufeld, E.F. (1968). Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts. Science, 162(3853), 570–572. doi:10.1126/science.162.3853.570 [CrossRef]
  • Frazier, L., Meininger, J., Halsey Lea, D. & Boerwinkle, E. (2004). Genetic discoveries and nursing implications for complex disease prevention and management. Journal of Professional Nursing, 20, 222–229. doi:10.1016/j.profnurs.2004.05.004 [CrossRef]
  • Fung, H. & Gerson, S. (2016). Gene therapy for hematologic diseases. In Kaushansky, K., Lichtman, M.A., Prchal, J., Levi, M.M., Press, O.W. & Caligiuri, M. (Eds.), Williams hematology (9th ed., pp. 437–446). New York, NY: McGraw-Hill Education.
  • Godino, L. & Skirton, H. (2012). A systematic review of nurses' knowledge of genetics. Journal of Nursing Education and Practice, 2, 173–184. doi:10.5430/jnep.v2n3p173 [CrossRef]
  • Guttmacher, A.E. & Collins, F.S. (2003). Welcome to the genomic era. New England Journal of Medicine, 349, 996–998. doi:10.1056/NEJMe038132 [CrossRef]
  • Guttmacher, A.E., Collins, F.S. & Drazen, J.M. (Eds.). (2004). Genomic medicine: Article from the New England Journal of Medicine. Baltimore, MD: Johns Hopkins University Press.
  • Heron, M. (2016). Deaths: Leading causes for 2013. National Vital Statistics Reports, 65(2), 1–95.
  • Institute of Medicine. (2010). Rare diseases and orphan products: Accelerating research and development. Washington, DC: The National Academies Press.
  • Jenkins, J.F. & Calzone, K.A. (2012). Are nursing faculty ready to integrate genomic content into curricula?Nurse Educator, 37, 25–29. doi:10.1097/NNE.0b013e31823836ec [CrossRef]
  • Kirk, M., Tonkin, E. & Birmingham, K. (2007). Working with publishers: A novel approach to ascertaining practitioners' needs in genetics education. Journal of Research in Nursing, 12, 597–615. doi:10.1177/1744987107083035 [CrossRef]
  • Knowles, M.S. (1970). The modern practice of adult education: Andragogy versus pedagogy. New York, NY: The Association Press.
  • Knowles, M.S. (1986). Using learning contracts: Approaches to individualizing and structuring learning. San Francisco, CA: Jossey-Bass.
  • Knowles, M.S., Holton, E.F. III. & Swanson, R.A. (2005). The adult learner: The definitive classic in adult education and human resource development (6th ed.). Burlington, MA: Elsevier. doi:10.4324/9780080481913 [CrossRef]
  • Kohn, D.B., Sadelain, M. & Glorioso, J.C. (2003). Occurrence of leukaemia following gene therapy of X-linked SCID. Nature Reviews Cancer, 3, 477–488. doi:10.1038/nrc1122 [CrossRef]
  • Lea, D.H. (2009). Basic genetics and genomics: A primer for nurses. Online Journal of Issues in Nursing, 14(2), 1–13.
  • Lewis, J.A., Calzone, K.M. & Jenkins, J. (2006). Essential nursing competencies and curricula guidelines for genetics and genomics. MCN The American Journal of Maternal Child Nursing, 31, 146–155. doi:10.1097/00005721-200605000-00004 [CrossRef]
  • Lewis, L.H. & Williams, C.J. (1994). Experiential learning: Past and present. New Directions for Adult and Continuing Education, 1994(62), 5–16. doi:10.1002/ace.36719946203 [CrossRef]
  • Maradiegue, A., Edwards, Q.T., Seibert, D., Macri, C. & Sitzer, L. (2005). Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics. Journal of the American Academy of Nurse Practitioners, 17, 472–479. doi:10.1111/j.1745-7599.2005.00076.x [CrossRef]
  • Merriam, S.B. (2001). Androgogy and self-directed learning: Pillars of adult learning theory. New Directions for Adult and Continuing Education, 2001(89), 3–14. doi:10.1002/ace.3 [CrossRef]
  • Metcalfe, A., Haydon, J., Bennett, C. & Farndon, P. (2008). Midwives' views of the importance of genetics and their confidence with genetic activities in clinical practice: Implications for the delivery of genetics education. Journal of Clinical Nursing, 17, 519–530. doi:10.1111/j.1365-2702.2006.01884.x [CrossRef]
  • Naldini, L. (2011). Ex vivo gene transfer and correction for cell-based therapies. Nature Reviews Genetics, 12, 301–315. doi:10.1038/nrg2985 [CrossRef]
  • Read, C.Y. & Ward, L.D. (2016). Faculty performance on the genomic nursing concept inventory. Journal of Nursing Scholarship, 48, 5–13. doi:10.1111/jnu.12175 [CrossRef]
  • Stice, J.E. (1987). Using Kolb's learning cycle to improve student learning. Engineering Education, 77, 291–296.
  • Wynn, R. (2011). Stem cell transplantation in inherited metabolic disorders. Hematology, 2011, 285–291. doi:10.1182/asheducation-2011.1.285 [CrossRef]

Participants' Evaluation of Achieving Learning Objectivesa

Learning ObjectivesNo. of ResponsesRange of ScoresMean ScoreParticipants' Comments
Demonstrates the construction of a model of a simple gene564–54.90Great visual slides/genetic tree, LEGO® [blocks] made it really easy to understand concepts. Really great day—interactive, casual, and open environment, which facilitated a comfortable learning opportunity. Appreciated the frequent breaks and all the food, very interesting, great speakers. The entire day was very interesting. Love the hands-on LEGO [blocks]. Loved the conference! I liked the hereditary syndrome pieces the best and would like to see more of this. Thanks very much.
Demonstrates the process of transcription that cells use to decode genes from DNA to RNA554–54.90Love the hands-on LEGO [blocks]. Well organized and information presented was at an appropriate intellectual level for the participants. So interesting an informative, great review and helped to clarify terminology and topics which have always seemed so complicated. Great class! Hands on/LEGO [blocks] were very helpful. Maybe talk more about nursing implications.
Demonstrates how to build a model protein chain and to fold the chain according to some simple rules564–54.87So interesting and informative, great review and helped to clarify terminology and topics which have always seemed so complicated. Great combination of hands-on, technical, and scientific discussion made clinically relevant trough case discussions. Really valuable experience—all the speakers were excellent.
Verbalizes the distinction between hereditary and sporadic conditions554–54.90I liked the hereditary syndrome pieces the best and would like to see more of this.
Verbalizes the different modes of inheritance584–54.86Really liked the case studies at the end to tie in what we learned and think about the situation as a healthcare provider. I recommend talking about more types of inherited conditions.
Verbalizes an understanding of the difference between germ line and somatic genetics544–54.86
Describes the utilization of hematopoietic stem cell transplant in one type of gene therapy544–54.85
Understands the gene transfer process544–54.79This workshop was amazing. All the speakers were great, and I loved how interactive it was.
Verbalizes how inherited changes in genes can lead to clinical conditions534–54.90Great combination of hands-on, technical, and scientific discussion made clinically relevant trough case discussions. Really valuable experience—all the speakers were excellent.
Describes how family history information is obtained and how family history can suggest risk of a hereditary disease544–54.94Parent perspective interesting but more helpful for nurses with less experience.
Describes the genetic testing and counseling process533–54.83
Identifies families appropriate for genetic referral and testing484–54.85
Describes the educational and psychological needs of patients and families with cancer predisposition syndromes503–54.84Parent perspective interesting but more helpful for nurses with less experience. Really liked the case studies at the end to tie in what we learned and think about the situation as a health care provider. Excellent to have Jobe (patient) to visit.
Explains the definition of personalized medicine494–54.95

Assumptions of Adult Learninga

Adults are internally motivated and self-directed Adults bring life experiences and knowledge to learning experiences Adults have learning needs that are influenced by social roles Adults are problem centered and want to apply new knowledge immediately Adult learners need to know why they need to know something before engaging in learning Adults are motivated by internal rather than external factors

Program Agenda

Program SegmentDescription
Part I:Workshop overview and introduction to basic genetics
  8:10–8:30 a.m.Basic building “blocks,” DNA to RNA to protein
  8:30–10:00 a.m.Hands on modeling DNA to RNA to protein, HHMI videos
  10:00–10:15 a.m.Break
Part II:Clinical genetics, somatic versus germ line gene therapy
  10:15–10:45 a.m.Introduction to inherited conditions
  10:45–11:30 a.m.Ex vivo gene therapy and diseases being treated at BCH
  11:30 a.m.–12:00 p.m.Cancer genetics
  12:00–12:30 p.m.Lunch
Part III:Genetic testing and counseling, and psychosocial aspects of genetic diseases
  12:30–1:00 p.m.What is genetic counseling?
  1:00–1:30 p.m.Genetic testing, counseling, and ethical issues
  1:30–2:00 p.m.Psychosocial aspects of genetic testing
  2:00–2:45 p.m.Case discussions
  3:00–4:00 p.m.Patient panel
  2:45–3:00 p.m.Break
  3:00–3:30 p.m.Evaluations and CEU certificates

Educational Resources and Websites

ResourceURL
Genetics Education Canadahttp://www.geneticseducation.ca
Genetics and Genomics Competency Center (G2C2)https://genomicseducation.net/
Cincinnati Children's Hospital Medication Center: Genetics Education Program for Nurseshttps://www.cincinnatichildrens.org/education/clinical/nursing/genetics
Global Genetics and Genomics: Communityhttp://genomicscases.net/en/user_home
Health Education England-Genomics Education Programhttps://www.genomicseducation.hee.nhs.uk/
Telling Stories, Understanding Real Life Geneticshttp://tellingstories.nhs.uk/
RNA-2014-short videohttp://www.pbs.org/wgbh/nova/body/rna-origin-life.html
DNA Vaccine MIT 2014-short videohttp://www.pbs.org/wgbh/nova/body/tiny-tattoo-vaccines.html
Virus wars–RNA interference-short videohttp://www.pbs.org/wgbh/nova/body/virus-wars.html (A full-length video produced in association with Hastings Center, known for its work in ethics. A transcript is provided as well as excellent links.)
Dr. Collins-2012 Cracking the genetic codehttp://www.pbs.org/wgbh/nova/body/cracking-your-genetic-code.html
Pediatric Cancer Risk Program at DFCI/Boston Children's Hospitalhttp://www.danafarberbostonchildrens.org/Treatment-and-Diagnosis/Genetic-Testing/Pediatric-Cancer-Risk-Program.aspx
Gene Reviews: Reviews of genetic conditions, including rare tumorshttp://www.ncbi.nlm.nih.gov/books/NBK1116/
OMIM: Online Mendelian Inheritance in Manhttp://www.omim.org/
International Society of Nurses in Geneticshttp://www.isong.org/
National Cancer Institutehttp://www.cancer.gov/
NSGC: National Society of Genetic Counselorshttp://www.nsgc.org/
UK's Genetic Competencies for Nurseshttps://www.gov.uk/government/uploads/system/uploads/attachment_data/file/215250/dh_131947.pdf
ACMG: American College of Medical Genetics and Genomicshttps://www.acmg.net/
National Human Genome Research Institute, NIHhttps://www.genome.gov/10001740/ethical-legal-and-social-issues-in-genomic-medicine/
NCHPEG: National Coalition for Health Professional Education in Geneticshttp://www.nchpeg.org/
Genetic Alliance: Resources for familieshttp://www.geneticalliance.org/
DNA Replication Howard Hughes Institutehttp://www.hhmi.org/biointeractive/dna-replication-advanced-detail
Authors

Dr. Williams is Nursing Director, Clinical & Translational Study Unit, and Co-Director, Interventional Trials and Experimental Therapeutics, Ms. Trainor is Nurse Research Project Manager, Boston Children's Hospital, and Ms. Dansereau is Director of Clinical Operations and Director of Clinical Research Nursing, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

The authors have disclosed no potential conflicts of interest, financial or otherwise.

The authors thank Kathleen M. Vandiver, PhD, Director, Community Outreach Education and Engagement Core, MIT Center for Environmental Health Sciences, for designing the models of the subunits of DNA and protein molecules that were used in this program's simulations to elucidate the molecular mechanisms of diseases.

Address correspondence to Lucinda Williams, DNP, RN, PNP, NE-BC, Nursing Director, Clinical & Translational Study Unit, and Co-Director, Interventional Trials and Experimental Therapeutics, Boston Children's Hospital, 300 Longwood Avenue, PV 626.1, Boston, MA 02115; e-mail: Lucinda.williams@childrens.harvard.edu.

Received: May 08, 2018
Accepted: November 27, 2018

10.3928/00220124-20190416-08

Sign up to receive

Journal E-contents