Tohoku J. Exp. Med., 2006, 210, 321-332Genetics and Primary Care Nurses 321 Nurses’ Professed Knowledge of Genetics and Genetic Counseling 1 2 2 3 AYS¸E GAYE TOMATIR, HÜLYA ÇETIN SORKUN, HURIYE DEMIRHAN and BEYZA AKDAĞ 1Department of Medical Biology, Pamukkale University Medical Faculty, Denizli, Turkey 2Health Services Vocational School, Pamukkale University, Denizli, Turkey 3Department of Biostatistics, Pamukkale University Medical Faculty, Denizli, Turkey TOMATIR, A.G., SORKUN, H.C., DEMIRHAN, H. and AKDAĞ, B. Nurses’ Professed Knowledge of Genetics and Genetic Counseling. Tohoku J. Exp. Med., 2006, 210 (4), 321-332 ── All over the world, the increased awareness of the importance of early diag- nosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This sur- vey aimed to measure the current status of primary care nurses’ knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consan- guineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses’ approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenyl- ketonuria, at 61.5%, and Cooley’s anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the preven- tion and early diagnosis of genetic diseases. ──── human genetics; genetic counseling; nurses; primary care © 2006 Tohoku University Medical Press A turning point in the history of biology was human genome research is creating new medical reached a decade ago when significant research and nursing practice roles and expanding health funding support was made available for the study opportunities for individuals, families, and com- of the human genome as part of the Human munities around the world (Lea et al. 2002). The Genome Project (HGP) (Collins 1999). The era of utilizing genomic information in all aspects explosion of genetic discoveries resulting from of basic and applied research and health care has Received June 26, 2006; revision accepted for publication October 14, 2006. Correspondence: Ays¸e Gaye Tomatır, Siteler M. Barbaros C. 6249 S. B1 Blok No:2/5, 20070 Kınıklı, Denizli, Turkey. e-mail: [email protected], [email protected] 321 322 A.G. Tomatır et al. Genetics and Primary Care Nurses 323 begun. The roles and activities of nurses in this Genetics (ISONG), which is dedicated to the new era include: (a) active participation in scientific, professional, and personal development genomic research, including the study of the bio- of nurses in the management of genetic informa- logic, behavioral, family, ethical, legal, and social tion (http://www.isong.org/); an ISONG initiative implications; (b) the development and integration designed to improve the quality of care succeeded of genomic technologies in health care and other in collaboration with the ANA in publishing a settings; (c) the interpretation and use of genomic document outlining the scope of practice and information and efforts to protect against the mis- identifying the characteristics of this specialty use of information; and (d) assuring that genomic area. In summary, nurses require education in research, technologies, and information be viewed genetics and nursing practice to identify, refer, in the context of other biopsychosocial factors support, and care for persons affected by, or at and cultural norms so that reinforcement of the risk from manifesting or transmitting, genetic concept of genetic determinism is not an unin- conditions (Jenkins et al. 2001). There are several tended by-product of this recent emphasis on categories of inquiry that integrate genetic knowl- genomics (Feetham et al. 2005). edge with nursing science (Williams et al. 2004). It was recommended over 40 years ago Nurses need to use genetic information in care; (Brantl and Esslinger 1962) that genetics be several areas of current need include cardiovascu- included in nursing curricula. Moreover, Kenen lar nursing, geriatric nursing, oncology nursing, (1984) stated that genetic counseling is an impor- public health, nursing education, and primary care tant new interdisciplinary occupational field for (Jenkins et al. 2001). nurses. However, more recent surveys indicate Primary health care is defined as the first that genetics content is still lacking (Hetteberg point of contact between patients and the health and Prows 2004). The National Coalition for service. In high-resource countries this may be Health Professional Education in Genetics the family doctor, or a community-based special- (NCHPEG) in the United States has developed a ist in internal medicine, pediatrics, or obstetrics set of recommendations for core competencies in and gynecology. In lower-resource countries the genetics that they regard as essential for all health first point of contact is often a nurse or trained professionals (NCHPEG Working Group health worker in a local clinic (Christianson and Committee Report 2001; Metcalfe and Burton Modell 2004). In our country the increased 2003). To address the continuing need for genet- awareness of the importance of early diagnosis of ics education amongst nursing faculty, a multifac- genetic illnesses has given them priority in prima- eted Genetics Program for Nursing Faculty ry health care (Tunçbilek 1998). Primary care (GPNF) was proposed and subsequently funded nurses who work in primary care in Turkey ensure in 1996 by the Ethical, Legal, and Social that preventive and therapeutic services are pro- Implications Research Program (ELSI) of the vided. National Human Genome Research Institute Turkey has a high rate of consanguineous (NHGRI) at the National Institute of Health (NIH). marriages (20-25%) (Tunçbilek 2001). The site The specific aims of the program are to increase of this study, Denizli province in Western Turkey, faculty knowledge about genetics and to increase has an 11.7% rate of consanguineous marriages the amount of genetics content in entry-level (S¸imsek et al. 1999). In Turkey’s Denizli prov- nursing education program curricula. Other ince about 3.5% of the population are hemoglo- initiatives to address this issue include the vote by binopathies carrier and 3.2% are thalassemia the American Nurses Association (ANA) in its carriers (refer to Turkish Ministry of Health, House of Delegates convention held in June 1999 Thalassemia Screening Program [www.denizli.sa to support genetics in basic, graduate, and con- glik.gov.tr]). Overall, the high consanguinity rate tinuing education for all nurses. It is also worth is one of the underlying factors in the high infant mentioning the International Society of Nurses in and child mortality rate in Turkey (Tunçbilek 322 A.G. Tomatır et al. Genetics and Primary Care Nurses 323 2001). For this reason, genetic screening of and 7. the ability to make recommendations to counseling for consanguineous couples are decrease risks that lead to common illnesses important issues (Bennett et al. 2002). In the near with genetic tendencies (questions 15-16), future, nurses will use counseling and case man- 8. an understanding of basic ethical principles agement skills to assist patients, families, and and techniques of genetic counseling (questions communities in this new era of genomic-based 17, 18). health care. This article describes nurses’ current The questionnaire’s validity and reliability were not researched because our main aim was not to create a approaches to and knowledge about human genet- research tool. ics and genetic education in Denizli, Turkey. MATERIALS AND METHODS Procedures Permission was obtained from the Provincial Health This was a descriptive and cross-sectional study in Ministry to conduct this study and it was informed about which experiences relating to genetic diseases and genet- the contents of the questionnaire. To provide consistent ic counseling and approaches within the scope of the explanatory information about the subject and questions, duties and responsibilities of nurses were researched. To the same investigator was available when all the nurses accomplish this, nurses who worked in all 26 of the filled out the questionnaires. Only volunteers participat- health clinics in the centre of Denizli province were ed in the study and the data were collected anonymously. included in the study. A self-report method was used for The items on the questionnaire were developed based on data collection. an article titled, “Illnesses that need genetic counseling” The questionnaire began with open-ended questions by Erdemir (1998) as well as studies by Mertens et al. regarding socio-demographic information. On the ques- (1984) and by Kirk (1999). Additionally, items asking tions relating to