Genetic counseling: A survey to explore knowledge and attitudes of Italian nurses and midwives

Authors


Correspondence address: Lea Godino, University of Bologna, UO Genetica Medica, Policlinico Sant'Orsola-Malpighi, via Massarenti, 9, Bologna 40138, Italy. Email: leagodino@gmail.com

Abstract

In the past, genetic services were delivered to a limited number of families with rare conditions. However, genomics is now being applied to both inherited and common diseases in a range of healthcare settings, and there is a greater need for nurses to understand the basic concepts of genetic health care. The aim of this cross-sectional survey was to explore the understanding and attitudes of Italian nurses toward genetic health care. A questionnaire was completed by 102 nurses and midwives (85% response rate). Of these, 61% believed that genetic counseling was only an informative and advisory process, and 53.9% could not specify to whom the counseling was aimed. When asked to identify nurses’ role in genetic health care, 62% of the respondents believed they had no role, although 28% believed that nurses could provide information, support, and counseling. These findings indicate that nurses have only partial knowledge of the issues surrounding genetic health care. To prepare nurses for the post-genomic era, improved genetic education at the undergraduate and postgraduate levels is required.

Introduction

In the past, medical genetics was a small specialty, delivering services to a limited number of families with conditions caused by a chromosomal abnormality or genetic mutation. Individually, each of these conditions is relatively rare; however, when viewed as a group, it is clear that genetic conditions do affect a significant number of people in the general population. Nurses have always been involved in offering care to individuals who are affected by one of a large number of genetic conditions, but this situation is changing. In the past, access to specialist genetic services and genetic testing was generally not available to patients with concerns about the genetic component of more common diseases, such as coronary heart disease and diabetes. Developments in technology have enabled the detection of genetic contributions to common diseases (Collins, 2004) and the identification of inherited subsets of diseases, such as diabetes (Shepherd et al., 2001). As a result, the study of genetics has become progressively more important to healthcare providers in Europe, where an estimated 30 million people now suffer from diseases with a genetic component (Cassiman, 2005). Nowadays, the number of people requiring genetic counseling has increased due to technological progress and molecular research. In addition, there have been some sociocultural changes, such as increasing maternal age for first pregnancies and medically-assisted procreation (Bricarelli et al., 2001). In view of these changes, genetic counseling activities need to be offered by a wider group of health professionals, so as to provide genetic information, education, and support to patients and their families with current and/or future genetic problems (Frazier et al., 2004).

In an article focused on nursing education, Lea (2002) explains not only basic genetics, but also the ways in which nurses can integrate a genetic focus into practice. This is important to enable nurses to help patients and their families understand genetic characteristics, genetic transmission, and how the expression of disease varies depending on environment. Lea (2002) therefore recommends that an initial nursing assessment should include taking a family history, to enable the nurse to identify a potential pattern of inheritance (e.g. Mendelian pattern or identification of a multifactorial condition), as this might have implications for the ongoing nursing and medical management of the family.

In many countries, genetic nurses are central to genetic health care. Genetic nurses currently work in many countries, including the UK, Japan, and the USA (Skirton et al., 2010a). There are diverse groups of professionals (including experts in clinical genetics, biologists, and psychologists) that see the need to integrate genetic knowledge with nursing science (Williams et al., 2004). Nurses need to use genetic information in care settings, such as cardiovascular nursing, geriatric nursing, oncology nursing, public health, nursing education, and primary care (Jenkins et al., 2001). In fact, in a survey by Tomatir et al. (2006), from Denizli, Turkey, approximately 67% of nurses stated they would like to attend a training course on these subjects to inform their practice, and as result of this study, a genetic course is planned for nurses.

The influence of genetics on nursing varies in different countries. In developing countries, competing health issues might reduce the impact and importance of genetics in public health. In other countries, the status of nurses might not be high enough for them to be considered relevant providers of genetic health care (Skirton et al., in review). However, genetics is now integral to routine nursing care in North America (Hamilton, 2009), Japan (Arimori et al., 2007), and Europe, although even in Europe, the role of the genetic nurse varies greatly from country to country (Skirton et al., 2010b).

In Italy, the Italian Society of Human Genetics states that the presence of a genetic nurse on the team in clinical genetic units is an obligatory requirement; however, despite this recommendation, the role of the genetic nurse has not yet been well defined (Society of Human Genetics, 2009). There are very few genetic centers in Italy employing genetic nurses; in fact, they are only employed in two independent provinces: Trento and Bolzano. In these two centers, there are nurses with genetic knowledge, and they work in collaboration with medical geneticists. Their training in genetics is provided “on the job” and through conferences and seminars, because in Italy there is no master program or any other specialized training available to become a genetic nurse.

In a systematic review of the published peer-reviewed literature of nurses’ knowledge of genetics (Godino & Skirton, 2012), there was only one study in which the actual knowledge of nurses was assessed. Bottorff et al. (2005) conducted a study to investigate the knowledge, professional involvement, and confidence of Canadian nurses and physicians in providing genetic services for adult onset hereditary disease. The authors stated that the opportunity to do this comparison provided information about potential areas for multidisciplinary collaboration in education programs and for arrangement of healthcare services to support the provision of genetic services. Surveys were sent to 1425 physicians and 1425 nurses, with responses from 543 physicians and 975 nurses. The questionnaire included items about: (i) demographics; (ii) current practice and expected professional role in providing genetic services; (iii) confidence in providing genetic services; (iv) perceived usefulness of participating in genetics-continuing education; and (v) genetics education and knowledge. The knowledge score was based on responses to five items on autosomal dominant inheritance risk (n = 1), familial cancer (n = 3), and definition of a mutation (n = 1). Two questions were in multiple-choice format, and three required either a true or false answer. Of the physicians, 34% responded correctly to four items, and 43% responded correctly to all five items, while 35% of nurses responded correctly to four items, and only 14% had all five items correct. There were large differences between the knowledge of nurses and physicians for two key items. Sixty-two percent of physicians correctly identified the 50% inheritance risk to a child of a person with an autosomal dominant condition, compared with 32.3% of nurses, while 81.1% of physicians knew that testing for a breast cancer gene mutation could not tell a woman that she had breast cancer, compared with 49.9% of nurses. The findings of this study indicate that nurses’ knowledge of even basic genetic principles might be poor. However, one of the weaknesses of this study lies in the survey questions used to assess knowledge. Three of the five questions required a true or false answer, which would have significantly increased the chance of a response being correct through chance. In addition, three of the questions relate to familial cancer, so the use of this test to assess overall genetics knowledge is questionable.

Authors of a number of other studies (Maradiegue et al., 2005; Tomatir et al., 2006; Spruill et al., 2009; Gharaibeh et al., 2010) assessed nurses’ self-reported knowledge; however, these studies do not provide a subjective assessment of the actual genetic knowledge of nurses. For example, both Spruill et al. (2009) and Gharaibeh et al. (2010) reported the self-perceived knowledge of nurses recruited via convenience sampling. Spruill et al. (2009) studied the perceptions of 77 African American nurses attending a conference, while Gharaibeh et al. (2010) recruited 200 nurses and midwives working at local hospitals serving women and children. In a systematic review by Skirton et al. (in review), nurses appeared to rate their knowledge of genetics as generally low, while another study of midwives (Skirton et al., 2010b) also indicated they were not achieving sufficient levels of knowledge and skill in the area of genetic health care. We were unable to find any relevant studies conducted with Italian nurses or midwives. We therefore identified a need to assess the knowledge of nurses and midwives in Italy with regard to basic genetic health care. Ethical approval was obtained from the Servizio Assistenziale, Tecnico – Sanitario e Riabilitativo in Bologna, Italy.

Literature review

Authors of a number of studies (Maradiegue et al., 2005; Tomatir et al., 2006; Spruill et al., 2009; Gharaibeh et al., 2010) have assessed nurses’ self-reported knowledge, and the evidence indicates that nurses generally perceive their knowledge of genetics as inadequate. Tomatir et al. (2006) conducted a survey to describes nurses’ current approaches to, and knowledge about, human genetics and genetic education in Turkey. Of 86 respondents, 68.7% reported that they had insufficient knowledge about basic genetics. Those results are not very different to those obtained by Spruill et al. (2009), who conducted a survey to explore to explore the genetics knowledge of African American nurses in the USA. Of the 77 nurses who participated in that study, 56% described their described their knowledge of genetics as poor, while 43% described it as good. In a later study, Gharaibeh et al. (2010) investigated nurses’ and midwives’ knowledge and perceptions of their role in genetic teaching. Of the 200 nurses and midwives who participated, the majority (86%) indicated an inadequate level of knowledge. However, these studies rely on nurses’ perceptions of their knowledge, rather than an objective assessment of the actual genetic knowledge of nurses. In a systematic review by Skirton et al. (2010b), midwives also indicated they were not achieving sufficient levels of knowledge and skill in the area of genetic health care. We were unable to find any relevant study conducted with Italian nurses or midwives, and therefore identified a need to assess the knowledge of nurses and midwives in Italy with regard to basic genetic health care.

Study aim

The aim of this exploratory qualitative study was to explore the understanding and attitudes toward genetic health care in a sample of Italian nurses and midwives.

The objectives were to explore the perceptions and knowledge of genetic counseling, the opinions of respondents about the role the role of nurses and midwives in the process of genetic counseling, and the attitudes of nurses and midwives towards the role of the specialist genetic nurse.

Methods

Study design

As this was an exploratory study, we used a mixed-methods design (O'Cathain et al., 2007). A cross-sectional survey that included both multiple choice questions and free-text boxes allowed us to collect data on specific questions, but also enabled respondents to provide further information about their views in free-text format.

Data collection

We performed a survey of nurses and midwives working at two large public hospitals in Bologna, Italy. The survey tool was an anonymous questionnaire. The questionnaire was developed by an expert in clinical genetics (a medical geneticist with over 15 years’ experience in clinical work and teaching nurses) and a final-year nursing degree student who was writing a thesis on genetics in nursing. The involvement of an expert in genetics helped to ensure face validity of the questionnaire. The questionnaire had 16 items (Fig. 1), and was divided into two parts. In the first part, the questions (1–3) were on demographics. The second part was divided into three thematic areas. The first dealt with education and training; the next five questions explored their thinking on what genetic counseling is and who might provide it. The last thematic area included eight questions about the professional experiences of nurses and midwives in genetics. Some of the questions (in particular, those focused on previous education and training in genetics) were based on the literature reporting similar studies (Irwin et al., 2004). However, as we were unable to find other surveys that included the topics we covered, the questions on genetic counseling and who can provide it were devised by the researchers to address the aims of this particular study. As the study was undertaken as part of an academic course, time constraints precluded conduct of a pilot study.

Figure 1.

Questionnaire, excluding the demographic questions.

Participants

Between November 2010 and January in 2011, questionnaires were given to registered nurses and midwives in the gynecology, obstetrics, prenatal medicine, neonatology, neonatal intensive care units at one hospital. In the other hospital, it was only possible to recruit midwives, because the Director of Nursing believed that genetics was irrelevant to the nurses’ role, and therefore did not give consent for nurses to be approached. Student nurses and student midwives were excluded from the study.

After obtaining consent from the hospital authorities, the first author visited each relevant department and explained the study. Questionnaires were left in the department, and the researcher returned one month later to collect any completed questionnaires. This ensured that potential participants were not placed under any pressure to be involved, and that all questionnaires were returned anonymously.

Statistical analysis

Data were put into a dedicated database, arranged by nominal variables, and analyzed using SPSS 16.0 for Windows (SPSS, Chicago, IL, USA). We used descriptive statistical tests to analyze demographic data, χ2-tests to compare the distribution between groups in non-parametric data, and ANOVA to compare means between groups for parametric data. Missing data were treated as a declined response, and participants who had not answered were not included in the analysis of the individual question responses.

Results

Of the 120 questionnaires circulated, 102 were returned (response rate of 85%). Of these respondents 58% (n = 59) were nurses and 42% (n = 43) were midwives. Most of the respondents were less than 40 years of age (Fig. 2) and had completed less than 20 years of service (see Fig. 3).

Figure 2.

Age of respondents. Medium = 37.78; standard deviation = 9.185; N = 102.

Figure 3.

Number of years that the respondents had worked as nurses. Medium = 13.56; standard deviation = 9.741; N = 102.

The majority of respondents had not studied a specific course or module on medical genetics during their training, but had studied basic principles of genetics at some point within the curriculum (see Table 1). The free-text responses to questions on the nature of genetic counseling and who might benefit from it are summarized in Table 2, as are the nurses’ opinions about who they considered could provide genetic counseling. Views on the roles of nurses and midwives in genetic counseling are presented in Table 3.

Table 1. Genetics training for nurses and midwives
QuestionYesNo
1. Did you study medical genetics in your training?46 (45.1%)56 (54.9%)
2. If not, were the basic principles of genetics covered in your courses of study?28 (52.8%)25 (47.2%)
3. Were you taught prenatal genetic counseling?45 (44.1%)57 (55.9%)
Table 2. Nurses’ responses to free-text questions on genetic counseling
What is genetic counseling?Genetic counseling is an informative and advisory processGenetic counseling is a diagnostic procedureDid not respond to the question  
61.0% (n = 62)15.0% (n = 15)24.0% (n = 25)
Who would benefit from genetic counseling?Couples before conception and during pregnancyIndividuals during other specified phases of lifeDid not specify  
39.2% (n = 40)6.9% (n = 7)53.9% (n = 55)
What types of professionals can provide genetic counseling?Medical geneticistsGynecologistsMidwivesNursesDid not know
52.7% (n = 54) 18.0% (n = 18)15.3% (n = 16)5.3% (n = 5)7.3% (n = 8)
Table 3. Role of nurses and midwives in providing genetic counseling
 Providing information, counseling, and supportCollecting dataMinimal roleNo role
Role of nurses in providing genetic counseling28.0%3.0%7.0%62%
(n = 29) (n = 3)(n = 7)(n = 63)
Role of midwives in providing genetic counseling39.0%2.0%15.0%44.0%
(n = 40) (n = 2)(n = 15)(n = 45)

Regarding the uses of genetic counseling, 19.7% (n = 20) responded that it could be used for the diagnosis of disease, 33.6% (n = 34) when there was a family history of genetic disorders, 1.5% (n = 2) after exposure to drugs, 6.6% (n = 7) in cases of consanguinity, 21.2% (n = 21) for other reasons (e.g. for women with a history of miscarriage), and 17.5% (n = 18) did not know.

In response to questions about their knowledge of the existence of a medical genetics unit in Bologna, 69.9% (n = 71) answered positively, and 30.4% (n = 31) negatively. However, only 24.5% (n = 25) reported having had contact with the local genetics service, while the same number had contact with other genetics services (mainly in Emilia–Romagna and neighboring regions, such as Toscana and Veneto). In contrast, 77.5% (n = 79) were aware of the availability of follow up (during and after the pregnancy) for couples if a fetus was found to have an abnormality and the parents decided to continue with the pregnancy.

Discussion

It is clear from our findings that the majority of nurses in our study did not have a clear perception of genetic counseling and only partial knowledge of the issues surrounding genetic health care. This might be because only a minority studied medical genetics (relating to genetic disease, rather than purely scientific genetic concepts) in their nursing courses, although the main content of medical genetics was addressed as a component of other topics. In addition, there was a marked absence of postgraduate training in genetics for nurses.

The results indicate that nurses and midwives do not have confidence in the ability of nurses to provide genetic health care. This might be because they believe that nurses do not have the requisite knowledge or skills in genetics to provide care. This is supported by evidence from the literature. For example, the survey conducted by Maradiegue et al. (2005) with advanced-practice nursing students indicated that nurses perceive that their knowledge of genetics is generally poor. The survey consisted of multiple-choice questions that examined their awareness and understanding of genetics. Fifty-seven percent of the students said they had no or minimal knowledge of the genogram, and only half (52.6%) knew something about genetic terms, such as meiosis, mitosis, and DNA; 5.14% of the respondents reported high knowledge of the genetic terms, and 3.9% reported high knowledge of genetic conditions. Those results are similar to those obtained by Tomatir et al. (2006), Spruill et al. (2009) and Gharaibeh et al. (2010).

Our results are also consistent with those of Terzioglu and Dinç (2003), who determined the views of nurses about their role in genetics in Turkey. A total of 313 nurses from two university hospitals participated in that study. The majority of respondents (88.6%) thought that they did not have an active role in genetic health care. The reasons given for this included poor knowledge (61.7%), low demand for nursing services in this area (67.5%), and lack of nursing staff (32.1%). Other participants cited restricted time (24.2%) and economic limitations (12.9%). However, a majority stated the nurses’ role in genetics obtaining data on family history (64.6%), assessment of the family pedigree (59%), and education of patients and their families before (72%) and after (67.5%) the test.

However, there is a body of literature that indicates that nurses need to contribute to the genetic aspects of the health care of a wide range of patients (Kirk, 1999; Lea, 2002; Williams et al., 2004). If nurses are to function in this way in Italy, as well as in countries, such as Turkey (Terzioglu & Dinç, 2003), it is clear that there needs to be improvement in the education of nurses. Reforms in Law 42/99 have influenced nurse education in the National Health System in Italy, changing the basic educational level from diploma to degree; however, nursing education does not appear to adequately address these topics in a way that enhances nurses’ understanding of basic genetic health care. The attitude of one director of nursing, who declined to allow nurses to be recruited, because genetics was not relevant to nursing, is an indicator of the challenges that can face those endeavoring to embed genetics into nursing practice. The same types of attitudes were discovered in a UK study by Pfeil and Chi-Meih (2005), who found that nursing managers were not convinced that genetics or genomics was an important issue for mainstream health care, and genetics education was not needed to prepare nurses for practice. In an international survey of nursing leaders in 10 countries from six continents, Kirk et al. (2011) also discovered that there were existing challenges to integrating genetics into nursing in all the countries studied; these included identifying nursing competences in genetics to integrating genetics into the nursing curricula. The authors call for more support by nurses at senior levels in government, regulatory bodies, and education to facilitate change, but do not specifically cite nurse managers at the institutional level as key personnel in this regard. As the low priority of genetics in nursing appears to be a global issue, it is unsurprising that nurses in Italy do not recognize the relevance of genetics to their practice.

The present study was a small study of nurses and midwives working in one city, and in departments where referral to genetic services is most likely (perinatal care). Although the response rate was very good (85%), further research is needed to establish whether the views and knowledge of nurses in this study are reflected across Italy and in different clinical contexts. We acknowledge the weaknesses of the study; one being the lack of a pilot study, and another, the use of invalidated tools. However, we were unable to find any previously used tools that would have served the purpose of surveying nurses on this topic.

Conclusion

Genetic counseling is not only a transmission of information, but a process in which patients’ emotional and psychological situations are considered and supported (Freshwater, 2003). In view of the findings, there appears to be a need to include more genetics material in nurse training courses, in particular with respect to genetic counseling and medical genetics issues. Nurses who work closely with patients and their families can then play a more effective role in supporting those with genetic conditions.

Acknowledgments

Lea Godino was supported by the Italian Ministry of University (Genetic Testing and Biobanks, Bioethical Issues in Law and Society, grant no. FIRB RBNE064RKM) and by a fellowship granted by the Medical School of the University of Bologna.

Contributions

Study Design: LG, DT.

Data Collection and Analysis: LG, DT.

Manuscript Writing: LG, HS, DT.

Ancillary