doi 10.1515/ijnes-2012-0007

International Journal of Nursing Education Scholarship 2013; 10(1): 245–254

Ann H. Maradiegue*, Quannetta T. Edwards, and Diane Seibert

5-Years Later – Have Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum? Abstract: Many genetic/genomic educational opportunities are available to assist nursing faculty in their knowledge and understanding of genetic/genomics. This study was conducted to assess advance practice nursing faculty members’ current knowledge of medical genetics/ genomics, their integration of genetics/genomics content into advance practice nursing curricula, any prior formal training/education in genetics/genomics, and their comfort level in teaching genetics/genomic content. A secondary aim was to conduct a comparative analysis of the 2010 data to a previous study conducted in 2005, to determine changes that have taken place during that time period. During a national nurse practitioner faculty conference, 85 nurse practitioner faculty voluntarily completed surveys. Approximately 70% of the 2010 faculty felt comfortable teaching basic genetic/genomic concepts compared to 50% in 2005. However, there continue to be education gaps in the genetic/genomic content taught to advance practice nursing students. If nurses are going to be a crucial member of the health-care team, they must achieve the requisite competencies to deliver the increasingly complex care patients require. Keywords: genetics, genomics, nursing knowledge, faculty knowledge

*Corresponding author: Ann H. Maradiegue, Trinity Washington University Nursing and Health Professions 125 Michigan Avenue NE Washington, DC 20017, E-mail: [email protected] Quannetta T. Edwards, Western University of Health Sciences, Pomana, CA, USA, E-mail: [email protected] Diane Seibert, Uniformed Services University of the Health Sciences, Bethesda, MD, USA, E-mail: [email protected]

Advanced Practice Registered Nurses (APRNs) in the twenty-first century require more than a basic knowledge of genetics/genomics to practice (Feero, Guttmacher, & Collins, 2010). Genetic services that were historically limited to single gene disorders and chromosome abnormalities are evolving rapidly, and clinicians are now required to apply genomic knowledge to the treatment of common chronic diseases. Genetics refers to single gene disorders,

while genomics is a multifaceted term with broader application than genetics, encompassing disorders that occur as the result of the interplay between multiple genes, complex biological functions, and the impact of the environment on human health (e.g. smoking and heart disease, and obesity and Type 2 Diabetes). Current genetic/genomic advances include the development of pharmacogenomic drug therapies, enhanced reproductive counseling and expanded reproductive options based on genetic test results, nuanced assessment of risk, and expanded clinical laboratory testing (Feero et al., 2010). Essential genetic/genomic competencies have also been developed by professional nursing organizations for curricula implementation at all levels of education including baccalaureate, masters’ and doctoral (Calzone, Jenkins, Prows, & Masny, 2011; Greco, Tinley, & Seibert, 2012). The need for these core competencies is warranted to prepare the nursing workforce to incorporate genetics/genomics into patient care (Institute of Medicine [IOM], 2011). Despite the need for a genetics/genomics knowledge base, many nurses are not prepared in this area. For example, graduates from medical and APRN programs were not adequately prepared to order genetic tests, interpret genetic laboratory results, or counsel patients on genetic insurance benefits, nor were the faculty prepared to teach the genetic/ genomic material (Doksum, Bernhardt, & Holtzman, 2003; Edwards, Maradiegue, Seibert, Macri, & Sitzer, 2006; Maradiegue, Edwards, Seibert, Macri, & Sitzer, 2005). Since these studies were published, several genetic/genomic education initiatives have become available to nursing faculty, raising the question of whether substantial changes have occurred in APRN faculty’s knowledge and comfort level related to teaching genetic/genomic content. Therefore, the purpose of this study was to describe if nursing faculty teaching APRNs are better prepared in 2013 to teach genetics/genomics than they were in the middle of the last decade, and compare faculty knowledge and comfort level results to previous study results. Data for this study were collected in 2010 and compared to 2005 data (Edwards et al., 2006). This comparison will help determine if gaps still exist in genetic/genomic knowledge and identify current perceived comfort levels of nurse educators with this content area.

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

Academic experts recognize the importance of genetics/genomics in nursing education. In 2008, a partnership between the Robert Wood Johnson Foundation (RWJF) and the Institute of Medicine (IOM) was formed with the express purpose of transforming the nursing profession. After a 2-year study, they made several recommendations including curricula that were adaptive enough to include scientific advances, specifically including genetics/genomics as a recommendation to be part of nursing curricula (IOM, 2011). The American Association of Colleges of Nursing (AACN) incorporated genetic/genomic competencies into the Essentials for baccalaureate nursing education in 2008 and into the master’s nursing curriculum in 2011. The AACN identified that genetic/genomic content is important to include in nursing education programs to ensure the delivery of safe, genetic/genomic-based prevention and health promotion strategies to the public. Recently, the American Nurses Association (ANA) published Essential Genetics and Genomic Competencies for nurses with graduate degrees including nurse practitioners, clinical nurse leaders, nurse educators, nurse scientists, and nurse administrators to complement existing nursing competencies and standards of care into clinical and non-clinical nursing roles (Greco et al., 2012).

Review of the literature A review of the literature was conducted to assess the findings of prior studies regarding implementation of genetics/genomics into nursing curricula. Key search terms included genetics, genomics, nursing education, and curricula in Google Scholar, Cumulative Index to Nursing and Allied Health (CINAHL), and Medline search engines from 2003 to 2013. Inclusion criteria were studies pertaining to nursing education in the United States (U.S.) so that data from this current study could be compared to determine changes in genetics/genomics knowledge and comfort level among U.S. nursing faculty. Only articles considered “research studies” regardless of design were included in the search and used as background data for this study. Using this search criterion resulted in 10 studies in which the utilization of genetic/genomic information in nursing education programs and nursing faculty education were examined. A study of APRN students (N ¼ 46) who participated in a genetic/genomic education training program revealed that 95% of the students had no genetic/genomic training in their undergraduate program, highlighting the challenge educators face in reaching students as they enter

their program of study (Maradiegue et al., 2005). In a descriptive, cross-sectional study, Dodson and Lewallen (2011) assessed the medical genetic/genomic knowledge base and comfort level of undergraduate nursing students (N ¼ 275), as the students progressed through the program. In this study, the students did not have a standalone genetics/genomics course in their curricula; instead the genetic/genomic information was integrated throughout their curricula. Findings from this study revealed significant differences in the perceived knowledge of medical genetics/genomics as students progressed through the nursing program from freshmen to senior levels when this information was given throughout the curricula. The seniors had a greater perceived knowledge of genetic/ genomic terms than either freshman or sophomores, and the junior class had greater perceived knowledge than the sophomore class. In another study conducted by Jenkins and Calzone (2012), researchers addressed the question “is nursing faculty ready to integrate genetic/genomic content into curricula?” They found that of the 167 masters and doctoral nursing faculty assessed, 83% agreed that preparing nurses to use genetics/genomic information was an important role for nurse educators and more than 72% reported “positive feelings” about the AACN Essentials of Baccalaureate Education (Essentials) including genetics/ genomics in nurse preparation. Despite these findings, 71% of the faculty rated their own personal genetics/ genomics knowledge as low or very low. Similar findings of licensed registered nurses (N ¼ 239) were reported by Calzone et al. (2012) regarding practicing nurses’ attitudes, practices, receptivity, confidence, and competency of integrating genetics/genomics into practice. In this study, the authors reported that 81% of the participants rated their understanding of genetics/genomics of common diseases as poor or fair. Knowledge of professional core competencies may aid faculty members, integration of genetics/genomics into curricula and improve nurses’ knowledge of genetics/ genomics in clinical practice. However, in some studies many faculty are unfamiliar with the Essentials, and according to Thompson and Brooks (2011) 64% of the faculty who teach in undergraduate programs across the U.S. have not even read the Essentials document. Implementation of genetics/genomics into course work requires faculty preparation. Horner, Abel, Taylor & Sands (2004) reported on a university that had 40–50% of their APRN faculty agree to participate in an individual and lunch time training program, resulting in the successful integration of genetic/genomic into the graduate nursing programs. Another way to address the teaching

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

genetics/genomics in undergraduate programs is to integrate genetics/genomics into the basic science courses that students are required to take. This approach was shown to be effective in a study of undergraduate (N ¼ 50) prenursing students, whereby integrating genetics/genomics into science courses contributed to gains in learning that may be useful in preparing them for professional practice (Schuster, 2011). Few published studies have been conducted to assess the integration of genetic/genomic information into graduate nursing programs. In a study by Edwards et al. (2006) to assess APRN faculty’s perceptions of medical genetics/genomics and its integration into APRN curricula, researchers found that most faculty (95%) recognized the importance of genetics/genomics in APRN education, but only 40% felt comfortable teaching a three-generation pedigree, and slightly more than half (55–58%) reported feeling comfortable teaching some of the basic genetic/genomic concepts. Moreover, only 20% of faculty reported that they had integrated a high-level of pharmacogenomics in their curricula and 60% reported feeling uncomfortable teaching pharmacogenomics (Edwards et al., 2006). The study was limited regarding data about previous genetic/genomic training obtained by faculty members. Training for faculty is important because studies have shown those nursing faculty who receive genetic/genomic training, either through a specific training program designed for nursing faculty (Prows et al., 2003) or through continuing education offerings by professional nursing organizations (Lea et al., 2006), are able to make significant contributions to the course work within their institutions regarding the addition of genetic/genomic content to nursing curricula. Prows et al. (2003) found that 31% of the faculty who had completed Genetics Summer Institute incorporated genetics/genomics content into their curriculum. Lea et al. (2006) in a study (N ¼ 211) of APRNs with training in genetics/genomics found that 57% worked in direct patient care, 33% were educators and 19% were actively involved in genetic/genomic research. Failure to include genetic/genomic content in APRN curricula is an impediment to nurses actively engaging in a health-care system that is increasingly influenced by genetics/genomics, and that these skills are important for all health-care professionals (Baars et al., 2005; Harris, Challen, Benjamin, & Harris, 2006; Suther & Goodson, 2003).

Conceptual framework In this study, researchers used the Essential Knowledge and Skills conceptual framework developed by

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Guttmacher and colleagues in 2007. The framework describes the essential knowledge and skills necessary for educating all health-care professionals about genetics/genomics and supports teaching the underlying scientific concepts of genetics/genomic, so that as the scientific knowledge base continues to grow, healthcare providers have the tools to translate the clinical utility of genetic/genomic information for patient care, and the skills to continue to expand their knowledge base (Guttmacher, Porteous, & McInerney, 2007). The essential concepts included in the framework are: modes of inheritance and utilization of the family history, genetic testing and interpretation of the results, risk calculation and genetic referral process, communication of genetic information and informed decision making.

Methods The overall objective of this study was to describe current genetic/genomic knowledge, perception, and integration of APRN faculty and to compare this data to previous findings from a study of APRN faculty on the same topic conducted in 2005 (Edwards et al., 2006). This study is a replication of one by Edwards et al. (2006), using the same survey to assess selfreporting data to answer the following research questions: (1) What are APRN faculty members’ knowledge regarding molecular/medical genetics/genomics concepts and conditions? (2) What molecular/medical genetics/genomics concepts, conditions, and topics were integrated into APRN curriculum by faculty? (3) What was the previous genetics/genomics education or formal training of the faculty? (4) What is APRN faculty members’ comfort level in teaching genetics/genomics content in APRN education?

Design/setting This is a descriptive, comparative, cross-sectional study that utilized surveys to obtain self-reporting data to meet the study’s purpose. The current study was conducted on APRN faculty attending a major national APRN faculty conference in 2010. Approximately 480 faculty members attended this 2010 conference. The focus of the conference was on current clinical practice, and the number of offerings that contained genetic content represented approximately 3% of the total

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

content for this conference for both the years 2005 and 2010. Self-reported questionnaires to obtain data to meet the study’s purpose were distributed via convenience sampling to APRN attendees, who attended a conference in 2010 and who volunteered to participate in the study. This method was similar to the study conducted in 2005 (Edwards et al., 2006). Permission from the University Human Subjects Review Board and the conference organizations were obtained prior to data collection.

Study instrument A 97-item self-report questionnaire was used to assess faculty training in genetics/genomics and their comfort teaching genetic/genomic content. Content validity for the instrument was established by a panel of medical genetics experts, and Cronbach’s alpha was estimated to be 0.76 using split-half technique. Questionnaire components included 51 multiple choice, 13 dichotomous items and two short open-ended questions assessing genetic knowledge, seven demographic questions, two items that assessed perceived overall knowledge of genetic/genomic concepts and conditions (categorical: very low, low, moderate, high, very high), five questions that assessed previous training or genetic education; and one item that assessed perceptions of barriers to integrating genetics content into APRN curricula. Fourteen items focused on the participants’ level of curriculum integration (categorical data: none, minimal, high), perceived comfort level in teaching genetics/genomics (dichotomous: yes/no), perceived level of comfort looking up genetic/genomic data online (dichotomous: yes/no), and two questions on prior formal education or training in genetics/genomic content (dichotomous data: yes/no). Two open-ended questions were used to determine where formal genetic/genomic training was received and where genetic/genomic material was taught in the curriculum.

Data analysis Data were coded and analyzed using SPSS (version 17). Descriptive statistics including frequencies and percentages were used to describe the participants’ demographics, perceived knowledge about medical genetics/ genomics, and comfort-level teaching medical genetics/ genomics. These frequencies were compared to those reported in a previous study (Edwards et al., 2006).

Results Sample Eighty-five faculty members (17.7%), out of the total 480 conference attendees, completed the questionnaire. At least one faculty member from all 50 U.S. states and Canada were included in the study, and perspectives from 50 different universities, representing state (62.4%), private (28.2%), historically black colleges (3.5%), health science centers (4.7%) and the uniformed service university (1.2%) were captured. All (100%) of the participants were APRNs’ and taught nursing at the graduate level. An overview of the study’s participants is in Table 1.

Table 1 Demographic characteristics of 2010 and 2005 faculty participants who teach in advance practice programs (N ¼ 85 year 2010; N ¼ 40 year 2005) Demographic characteristics

Highest education: Master’s degree Doctorate degree APRN: Yes No Type of certification* Family Adult Pediatrics Acute care Geriatrics Neonatal Women’s health Other (Not specified) Type of educational program State Private Health science center Historically Black college/university Other Type of NP program Family Adult/Geriatrics Acute care DNP Other

Study year 2010 N (%)

2005 N (%)

28 (32.9) 57 (67.1)

9 (22.5) 31 (77.5)

85 (100) 0 (0)

37 (92.5) 3 (7.5)

43 13 2 10 2 8 4 3

(50.6) (15.3) (2.4) (11.8) (2.4) (9.4) (4.7) (3.6)

21 7 5 1 1 1 2 2

(52.5) (17.5) (12.5) (2.5) (2.5) (2.5) (5.0) (5.0)

53 24 4 3 1

(62.4) (28.2) (4.7) (3.5) (1.2)

28 7 3 1 1

(70.0) (17.5) (7.5) (2.5) (2.5)

50 11 3 8 13

(58.8) (12.9) (3.5) (9.4) (15.4)

27 (57.5) 7 (17.5) 1 (2.5) N/A 5 (12.5)

Notes: *Respondents could select more than one type of certification; APRN ¼ Advance Practice Registered Nurse; N/A no data obtained.

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

Overall perceived knowledge of genetic concepts Participants rated their overall knowledge of medical genetic/genomic concepts and disease conditions by selecting one of the following responses: “very low”, “low”, “moderate”, “high” or “very high”. In the current study, approximately 15% of APRN faculty reported “high” or “very high” level of medical genetics/genomics, while 33.0% and 32.5% reported “very low” to “low” knowledge of this topic. Similar percentages of faculty who reported “low” knowledge were reported among faculty who participated in the 2005 study; however, there were higher percentages of APRN faculty who reported “moderate” knowledge of genetics/genomics in 2005 compared to APRN faculty in 2010 (Figure 1).

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the 2010 study when compared to the earlier study regarding teaching genetic/genomic conditions and concepts (Table 2). There was more than a 33% change in the percent of 2010 APRN faculty who reported being “comfortable” in teaching the three-generation pedigree, breast/ovarian cancer, colon cancer, sickle cell disease and thalassemia when compared to 2005. The biggest percent difference occurred in faculty’s comfort level in teaching sickle cell disease (48.2%) and breast/ovarian cancer (44.0%) in 2010 compared to data obtained from the 2005 study. Although these results are encouraging, faculty were still not comfortable using some of the available resources to learn more about genetic/genomic topics. For example, 65% did not feel comfortable using the Online Mendelian Inheritance in Man (OMIM) as a resource to look up genetic/genomic information.

Perceived comfort level of teaching selected genetic conditions and concepts

Integrating genetics into APRN curricula

APRN faculty were queried about perceived comfort level of teaching genetics/genomics by responding “yes” or “no” to 28 specific genetics conditions and concepts. Approximately 50% or more of the faculty in the 2010 study reported that they felt comfortable in teaching basic genetic/genomic concepts; however, the percentage of faculty who felt comfortable teaching specific genetic/ genomic conditions varied. Approximately 70% of the faculty felt comfortable teaching the genetics concepts related to Mendelian inheritance (e.g. autosomal dominant, and recessive disorders), and 83.6% reported feeling comfortable teaching hemochromatosis content. With the exception of the genetics/genomics of diabetes, there was a positive change in the comfort level of faculty in

Table 3 provides a summary of APRN faculty’s selfreported data regarding level of integration of genetic/ genomic concepts and conditions into advanced practice curricula for 2005 and 2010. Similar to the perceived comfort level described previously, the percent of faculty who reported the level of integration of selected genetic/ genomic concepts and conditions into APRN curricula for the current study also varied (Table 3). Of all the selected genetic/genomic conditions and concepts, slightly more than half of the 2010 APRN faculty reported “high” level of integration of cardiovascular conditions and genetics/ genomics (57.5%) and hemochromatosis (54.2%) in APRN curricula. For all genetic/genomic concepts, conditions and technologies assessed with the exception of diabetes

Year 2010

Year 2005 62.5%

52.0%

33.0%

32.5%

15.0% 5.0%

Very low/Low

Moderate

High/Very high

Genetic knowledge Figure 1 Comparison of years 2010 and 2005 regarding the percentage of advance practice faculty (APRN) who self-reported their perceived overall knowledge of medical genetics/genomics concepts and conditions

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Table 2 Advance practice faculty’s self-reported level of comfort teaching genetic concepts and conditions years 2010 and 2005 (N ¼ 85 and N ¼ 40 respectively) Genetic condition and concepts

Year 2010

Year 2005

**Percent difference in 2010 and 2005*

Yes N (%)

No N (%)

Yes N (%)

No N (%)

Yes to comfort in teaching genetics (%)

Basic genetic concepts Autosomal dominant Autosomal recessive X-linked Mitochondrial inheritance Three-generation pedigree

59 (69.4) 60 (70.6) 56 (65.9) 42 (49.4) 67 (78.8)

26 (30.6) 25 (29.4) 29 (34.1) 43 (50.6) 18 (21.2)

23 (58.0) 23 (58.0) 22 (55.0) 10 (25.0) 16 (40.0)

17 (43.0) 17 (43.0) 18 (46.0) 30 (75.0) 24 (60.0)

11.4 12.6 10.9 24.4 38.8

Genetic conditions Tay–Sachs disease Cystic fibrosis Breast/ovarian cancer Colon cancer Hemochromatosis Sickle cell anemia Thalassemia Fragile-X syndrome Huntington’s disease Phenylketonuria Gaucher’s disease Myotonic dystrophy Klinefelter’s syndrome Diabetes and genetics Cardiovascular conditions and genetics Trisomy 13, 18 or 21 Familial hypercholesterolemia

50 (58.8) 59 (69.4) 74 (87.0) 71 (83.6) 71 (83.6) 75 (88.2) 70 (82.4) 46 (54.2) 55 (64.7) 49 (57.6) 28 (33.0) 31 (36.6) 46 (54.1) 46 (54.1) 49 (57.6) 48 (56.4) 65 (57.7)

35 (41.2) 26 (30.6) 11 (13.0) 14 (16.5) 14 (16.5) 10 (11.8) 15 (17.6) 39 (45.8) 30 (35.3) 36 (42.4) 57 (67.0) 54 (63.4) 39 (45.9) 39 (45.9) 36 (42.4) 37 (43.6) 36 (42.3)

15 (38.0) 18 (45.0) 23 (58.0) 22 (55.0) 16 (40.0) 24 (60.0) 22 (55.0) 20 (50.0) 14 (35.0) 19 (48.0) 6 (15.0) 11 (28.0) 14 (35.0) 22 (55.0) 21 (53.0) 17 (43.0) 19 (48.0)

25 (63.0) 22 (55.0) 17 (43.0) 18 (45.0) 24 (60.0) 16 (40.0) 18 (45.0) 20 (50.0) 26 (65.0) 21 (53.0) 34 (85.0) 29 (73.0) 26 (65.0) 18 (45.0) 19 (48.0) 23 (58.0) 21(53.0)

20.8 24.4 44.0 38.6 23.6 48.2 37.4 4.2 29.7 9.6 18.0 8.6 19.1 −0.9 4.6 23.4 9.7

Other Polymerase chain reaction Gene therapy Online Inheritance in Man (OMIM)

20 (23.5) 33 (38.8) 30 (35.3)

65 (76.5) 52 (61.2) 55 (64.7)

6 (15.0) 11 (28.0) N/A

34 (85.0) 29 (73.0) N/A

8.5 10.8

Notes: *2005 data from Edwards et al. (2006, p. 128); **Percent change reflects “high-level” of integration into advance practice curriculum years 2010 compared to 2005; N/A no data obtained.

and genetics, there were higher percentages of APRN faculty in 2010 who reported a high integration of genetics/genomics into curricula when compared to that of the 2005 APRN faculty. The biggest difference or improvement was noted in high “integration” of sickle cell anemia (48.2%), breast/ovarian cancer (44.0%), and the three-generation pedigree (38.8%) topics into the nursing curricula. In 2005, only 25% of the participants included a three-generation pedigree in the curricula and 20–23% of the participants reported that their curricula included a “high level” of discussion around inheritance patterns (autosomal dominant, autosomal recessive and X-linked inheritance (Edwards et al., 2006)). Of the 85 participants in the 2010 study, all felt that genetic/genomic knowledge was important to APRN education, but only 4 (4.7%) reported having a separate

genetic/genomic course at their institution. Of those who reported not having a separate genetics/genomic course, approximately 92% and 85% of the APRN faculty reported that their university either began or planned to integrate genetics into a pathophysiology and health assessment course respectively, and 11% reported that they had begun or planned integration of pharmacogenomics into an APRN pharmacology course.

Prior education and training in genetics Participants of the 2010 study were asked to respond yes/ no to whether they had received formal training in genetics. If they responded yes, they were asked where they received training. Five of the 85 participants (5.9%)

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

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Table 3 Advance practice faculty’s self-reported level of integration of genetic concepts and conditions into advance practice curricula – years 2010 and 2005 (N ¼ 85/N ¼ 40 respectively) Genetics topics

Level of integration Year – 2010 None N (%)

Minimal N (%)

High N (%)

Year – 2005* None N (%)

Minimal N (%)

**Percent change from 2005 to 2010 for HighLevel integration (%)

High N (%)

Basic genetic concepts Autosomal dominant Autosomal recessive X-linked Mitochondrial inheritance Three-generation pedigree

5 6 8 12 2

(5.9) 57 (65.8) (7.1) 56 (58.7) (9.4) 60 (70.7) (14.1) 61 (75.8) (2.4) 42 (50.4)

23 23 17 12 41

(27.1) 6 (15.0) (27.1) 6 (15.0) (19.9) 7 (18.0) (14.1) 17 (43.0) (48.2) 8 (20.0)

25 25 25 20 22

(63.0) 9 (63.0) 9 (63.0) 8 (50.0) 3 (55.0) 10

(23.0) (23.0) (20.0) (8.0) (25.0)

4.1 4.1 0.1 6.1 25.4

Genetic conditions Tay–Sachs disease Cystic fibrosis Breast/ovarian cancer Colon cancer Hemochromatosis Sickle cell anemia Thalassemia Fragile-X syndrome Huntington’s disease Phenylketonuria Gaucher’s disease Myotonic dystrophy Klinefelter’s syndrome Diabetes and genetics Cardiovascular conditions and genetics Trisomy 13, 18 or 21 Familial hypercholesterolemia

5 2 1 2 11 2 3 11 6 5 27 25 10 11 7 10 7

(6.4) (2.4) (1.2) (2.4) (12.9) (2.4) (3.5) (12.9) (7.1) (5.9) (31.8) (29.4) (11.8) (12.9) (8.2) (11.8) (8.2)

17 25 36 35 46 28 21 15 14 16 6 8 18 16 49 18 30

(20.0) (29.3) (42.4) (41.2) (54.2) (33.0) (24.7) (17.2) (16.4) (18.8) (7.1) (9.5) (21.2) (25.2) (57.7) (23.6) (35.3)

23 21 21 20 20 23 22 20 23 15 1 14 19 22 21 19 14

(58.0) (53.0) (53.0) (50.0) (50.0) (58.0) (55.0) (50.0) (58.0) (38.0) (3.0) (35.0) (48.0) (55.0) (53.0) (48.0) (35.0)

(13.0) (33.0) (40.0) (35.0) (8.0) (30.0) (23.0) (15.0) (8.0) (28.0) (23.0) (5.0) (13.0) (38.0) (35.0) (20.0) (33.0)

7.0 2.7 2.4 6.2 46.2 3.0 2.2 2.2 8.4 –10.8 –16.9 4.5 8.2 –12.8 22.7 3.6 2.3

Other Polymerase chain reaction Gene therapy

28 (32.9) 45 (52.9) 12 (14.2) 29 (73.0) 7 (18.0) 13 (15.3) 65 (74.4) 7 (10.3) 20 (50.0) 16 (40.0)

4 (10.0) 4 (10.0)

14.4 0.3

63 58 48 48 58 55 61 59 65 31 52 52 57 58 29 57 48

(73.6) (68.3) (56.4) (56.4) (61.9) (64.6) (71.8) (69.9) (76.5) (36.5) (61.1) (61.1) (67.0) (61.9) (34.1) (70.2) (56.5)

12 6 3 6 17 5 9 14 14 14 30 24 16 3 5 13 13

(30.0) (15.0) (8.0) (15.0) (43.0) (13.0) (23.0) (35.0) (35.0) (35.0) (75.0) (60.0) (40.0) (8.0) (13.0) (33.0) (33.0)

5 13 16 14 3 12 9 6 3 11 9 2 5 15 14 8 13

Notes: *2005 data from Edwards et al. (2006, p. 128); **Percent change reflects “high-level” of integration into advance practice curriculum years 2010 compared to 2005; N/A no data obtained.

reported having had formal training in genetics/genomics; of these five participants, four (4.7%) reported prior training at the Summer Genetic Institute offered by the National Institute of Nursing Research. In Table 4, the self-reported data on APRN faculty’s formal training/education on selected genetic/genomic concepts and conditions are presented. The percentage of APRN faculty who reported “yes” to receiving formal training and education of selected genetic/genomic concepts and conditions ranged from 2.4% to 8.2%. When compared to the 2005 study, the percentage of faculty in the 2010 study reporting formal genetic/genomic training education in the year 2010 was less in all the selected topic areas suggesting that fewer 2010 faculty received overall genetics/genomic training when compared to the 2005 study group.

Discussion While there are some limitations to the study, such as the small, convenience sample, this study still provides some important insights for the nursing profession. Although it was found in previous studies that faculty recognize the importance of medical genetics/genomics (Edwards et al., 2006; Jenkins & Calzone, 2012), the results of this study indicate that many faculty are still uncomfortable with the subject matter, despite professional core competencies warranting integration of genetics/genomics into nursing curricula. If APRNs are to be considered clinical experts and play a significant role in health care, they must be able to apply genetic/genomic knowledge to practice. It is highly likely that in the near future, the

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

Table 4 Advance practice faculty who self-reported formal education or training in genetics/genomics in years 2010 and 2005 (N ¼ 85 and N ¼ 40 respectively) Genetic concepts and conditions

Year 2010

*Year 2005

% Difference

Yes N (%)

No N (%)

Yes N (%)

No N (%)

“Yes” faculty training/education year 2010 and 2005

Basic genetic concepts Autosomal dominant Autosomal recessive X-linked Mitochondrial inheritance Three-generation pedigree

6 (7.1) 6 (7.1) 3 (3.5) 3 (3.5) 7 (8.2)

79 (92.9) 82 (96.5) 82 (96.5) 78 (91.8) 78 (91.8)

15 (37.5) 15 (37.5) 15 (37.0) 8 (20.0) 13 (32.5)

25 (62.5) 25 (62.5) 25 (63.0) 32 (80.0) 27 (67.5)

–30.4% –30.4% –33.5% –16.5% –23.3%

Genetic conditions Tay–Sachs disease Cystic fibrosis Breast/ovarian cancer Colon cancer Hemochromatosis Sickle cell anemia Thalessemia Fragile-X syndrome Huntington’s disease Phenylketonuria Gaucher’s disease Myotonic dystrophy Klinefelter’s syndrome Diabetes and genetics Cardiovascular conditions and genetics Trisomy 13, 18 or 21 Familial hypercholesterolemia

4 (4.7) 4 (4.7) 6 (7.1) 4 (4.7) 4 (4.7) 5 (5.9) 4 (4.7) 3 (3.5) 4 (4.7) 4 (4.7) 3 (3.5) 2 (2.4) 3 (3.5) 4 (4.7) 4 (4.7) 2 (2.4) 3 (3.5)

81 (95.3) 79 (92.9) 81 (95.3) 81 (95.3) 80 (94.1) 81 (95.3) 82 (96.5) 81 (95.3) 81 (95.3) 82 (96.5) 83 (97.6) 82 (96.5) 81 (95.3) 81 (95.3) 83 (97.6) 82 (96.5) 82 (96.5)

9 (22.5) 10 (25.0) **7 (18.5) 9 (22.5) 6 (15.0) 9 (22.5) 11 (27.5) 10 (25.0) 8 (20.0) 8 (20.0) 4 (10.0) 7 (17.5) 9 (22.5) 9 (22.5) 9 (22.5) 11 (27.5) 8 (20.0)

31 (77.5) 30 (75.0) **31 (81.5) 31 (77.5) 34 (85.0) 31 (77.5) 29 (72.5) 30 (75.0) 32 (80.0) 32 (80.0) 36 (90.0) 33 (82.5) 31 (77.5) 31 (77.5) 31 (77.5) 29 (72.5) 32 (80.0)

–17.8 –20.3 –11.4 –17.8 –10.3 –16.6 –21.4 –21.4 –15.3 –15.3 –6.5 –15.1 –19.0 –17.8 –17.8 –21.5 –16.5

Other Polymerase chain reaction Gene therapy

2 (2.4) 4 (4.7)

81 (95.8) 81 (95.8)

5 (12.5) 7 (17.5)

35 (87.5) 33 (82.5)

–10.1 –12.8

Notes: *2005 data from Edwards et al. (2006, p. 128); **Denotes missing data.

diagnostic categories that practitioners are familiar with will be significantly modified based on genetics/genomics. The leading causes of death and Illness in the U. S. include heart disease, cancer, cerebrovascular disease, Alzheimer’s and diabetes all of which have a genetic and/ or genomic component (Murphy, Xu, & Kochanek, 2012). Due to the chronic nature of these conditions and the management needed, nurses are intimately involved in the care of the patients, making genetic/genomic knowledge imperative for the nursing profession. Although faculty members have access to a variety of different training programs, many have requested online genetic/genomic toolkits, didactic models, model curricula, and faculty mentors (Jenkins & Calzone, 2012). If nurses are to deliver high-quality health-care services in the twentyfirst century, education is the key. It is evident by the results of this study that while some APRN programs offer genetics/ genomics content, many academic programs do not

adequately prepare APRNs to assume responsibility for all aspects of genetic/genomic service delivery. APRN students must be taught to assist the patient in making informed decisions regarding their health care, genetic/genomics must be incorporated into the physical health assessment and diagnostic processes across the life span, and APRNs must be prepared to interpret drug interventions and prescribe using pharmacogenomics. Sample curricula for APRN students along with suggestions for integration and resources are presented in Table 5. A rigorous program of study (e.g. research, theory/ethics, and informatics) is required. Some suggestions and resources for each content area resources are presented in Table 5. Most universities find a stand-alone genetic/genomic course not cost effective, thus integrating content into the appropriate subject matter is not only optimal, an increasing number of texts used by APRNs are including genetic/genomic information (Jenkins & Calzone, 2012).

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A. H. Maradiegue et al.: Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum

Table 5

253

Sample APRN curricula

Core courses for APRN graduate studies

Genetic/Genomic addition

Research/statistics

Have students review an issue in Biological Research for Nurses and present a method of research specific to genetics/genomics. Evaluate the Genetic Information Non-Discrimination Act (GINA) and ethical, legal and social issues (ELSI) related to genetic/genomic testing and storage of data http://www.genome.gov/24519851 http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Explore the challenges to genome analysis and personalized medicine. http://bioinformatics.oxfordjournals.org/content/27/13/1741.full.pdf Include public health genomics in the community project as part of the chronic disease evaluation in the population http://www.cdc.gov/genomics/public/

Theory/ethics

Informatics Community First year Pharmacology

Advanced pathophysiology

Advanced health assessment

Clinical decision making

Second year Clinical rotations

Include pharmacogenomics applications in pharmacology http://www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml http://pharmacogenomics.ucsd.edu/ Integrate genetic content into each system Example: Factor V Leiden into Reproductive System and Hyperlipidemia into cardiovascular system http:// ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia http://ghr.nlm.nih.gov/condition/hypercholesterolemia Have students collect a three-generation pedigree and conduct a risk assessment http://www.jogc.com/abstracts/full/201007_Obstetrics_5.pdf http://www.genome.gov/17516481 Have students explore online testing resources and reporting of genetic laboratory values, shared decision making. http://ghr.nlm.nih.gov/handbook/testing/interpretingresults http://nursingstandard.rcnpublishing.co.uk/shared/media/pdfs/v20n03p4851.pdf Include genetics in the case studies that students have during clinical rotations. For example, include different scenarios within existing case studies. A case study on a breast cancer may have several different outcomes, treatment and prevention strategies based on the family history and risk factors. http://www.cancer.gov/cancertopics/pdq/prevention/breast/HealthProfessional/page1

Conclusions An increasing number of young students have received some genetic/genomic course work in high school and in their undergraduate curricula (Prows, Glass, Nicol, Skirton, & Williams, 2005). The challenge for all healthcare providers is to transform this basic knowledge into something meaningful in the clinical environment. Although there are many genetic/genomic learning opportunities for nurse educators, much work remains

to be done to ensure that all nurses are adequately prepared to safely care for patients in this age of genomic medicine, where science has moved from single gene disorders to common complex diseases. APRNs with prescriptive authority and responsibility to diagnose and manage patient health problems must be attain and maintain basic genetic/genomic competencies in order to practice. Future research needs to explore the most effective educational methods to deliver genetics/genomic information to optimize clinical outcomes.

References American Association of Colleges of Nursing. (2011). AACN essential series. Washington, DC: Author. Retrieved from http://www. aacn.nche.edu/education/essentials.htm Baars, M. J., Scherpbier, A. J., Schuwirth, L. W., Henneman, L., Beemer, F. A., Cobben, J. M., … Ten Kate, L. P. (2005).

Deficiency knowledge of genetics relevant for daily practice among medical students nearing graduation. Genetics in Medicine, 7(5), 295–301. Calzone, K., Jenkins, J., Prows, C., & Masny, A. (2011). Establishing the outcome indicators for the essential nursing competencies

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and curricula guidelines for genetics and genomics. Journal of Professional Nursing, 27(3), 179–191. Calzone, K., Jenkins, J., Yates, J., Cusack, G., Wallen, G., Liewehr, D., … McBride, C. (2012). Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship, 44(4), 428–436. Dodson, C., & Lewallen, L. (2011). Nursing students’ perceived knowledge and attitude towards genetics. Nurse Education Today, 31(4), 333–339. Doksum, T., Bernhardt, B., & Holtzman, N. (2003). Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing? Genetics in Medicine, 5(2), 99–105. Edwards, Q. T., Maradiegue, A., Seibert, D., Macri, C., & Sitzer, L. (2006). Faculty members’ perceptions of medical genetics and its integration into nurse practitioner curricula. Journal of Nursing Education, 45(3), 124–130. Feero, W. G., Guttmacher, A. E., & Collins, F. S. (2010). Genomic medicine – An updated primer. New England Journal of Medicine, 362(21), 2001–2011. Greco, K. E., Tinley, S., & Seibert, D. (2012). Essential genetic and genomic competencies for nurses with graduate degrees. Silver Spring, MD: American Nurses Association and International Society of Nurses in Genetics. Guttmacher, A., Porteous, M., & McInerney, J. (2007). Educating health professionals about genetics and genomics. Nature Reviews Genetics, 8(2), 151–157. Harris, R., Challen, K., Benjamin, C., & Harris, H. (2006). Genetic education for non-geneticist health professionals. Community Genetics, 9(4), 224–226. Horner, S., Abel, E., Taylor, K., Sands, D. (2004). Using theory to guide the diffusion of genetics content in nursing curricula. Nursing Outlook, 52(2), 80–84.

Institute of Medicine. (2011). The future of nursing. Washington, DC: National Academies Press. Jenkins, J., & Calzone, K. (2012). Are nursing faculty ready to integrate genomic content into curriculum? Nurse Educator, 37(1), 25–29. doi:10.1097/NNE.0b013e31823836ec. Lea, D., Williams, J., Cooksey, J., Flanagan, P., Forte, G., & Blitzer, M. (2006). U.S. genetics nurses in advanced practice. Journal of Nursing Scholarship, 38(3), 213–218. Maradiegue, A., Edwards, Q., 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(11), 472–479. Murphy, S., Xu, J., & Kochanek, K. (2012). National vital statistics reports. Deaths: Preliminary data for 2010, 60(4). Retrieved from http://www.cdc.gov/nchs/data/nvsr/nvsr60/nvsr60_04. pdf Prows, C., Glass, M., Nicol, M., Skirton, H., & Williams, J. (2005). Genomics in nursing education. Journal of Nursing Scholarship, 37(3), 196–202. Prows, C., Hetteberg, C., Johnson, N., Latta, K., Lovell, A., Saal, H., … Warren, N. (2003). Outcomes of a genetics education program for nursing faculty. Nursing Education Perspectives, 24(2), 81–85. Schuster, M. (2011). Can genetic and genomic competencies nursing be taught in a pre-nursing microbiology class? Life Sciences Education, 10(2), 216–221. Suther, S., & Goodson, P. (2003). Barriers to the provisions of genetic services by primary care physicians: A systematic review. Genetics in Medicine, 5(2), 70–76. Thompson, H., & Brooks, M. (2011). Genetics and genomics in nursing: Evaluating essentials implementation. Nurse Education Today, 31(6), 623–627. doi:10.1016/j.nedt.2010.10.023

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5-years later - have faculty integrated medical genetics into nurse practitioner curriculum?

Abstract Many genetic/genomic educational opportunities are available to assist nursing faculty in their knowledge and understanding of genetic/genomi...
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