Pediatri Hemşireliğinde Genetik/Genomik

Yıl 2021, Cilt: 15 Sayı: 4, 895 - 905, 20.12.2021

Emine Bayrak Aykan Berna Eren Fidancı

https://doi.org/10.21763/tjfmpc.900034

Öz

Genetik, genlerin yapı ve işlevlerini inceleyen, genetik özelliklerin kalıtımını araştıran bilim dalıdır. Genomik, tüm genlerin birlikte çalışmasını, birbirleriyle etkileşimlerini ve çevresel etkilerini tanımlayan yeni bir disiplindir. Genomik bilim, insan genom projesinin tamamlanmasıyla, tüm sağlık profesyonelleri için son derece önemli bir bilim olarak ortaya çıkmıştır. Son yıllarda hastalıkların önlenmesi, tarama, tanı, tedavi ve tedavi etkinliğinin değerlendirilmesi aşamasında genomik bilgi ve teknolojilerin daha sık kullanıldığı ve genomik biliminin sağlık hizmetlerine daha fazla entegre olduğu görülmektedir. Bu durum bazi hastalıklarda daha erken tanı ve risk değerlendirmesinin saglanmasi, tedavi seçenekleri sunmak gibi için genomik bilgi ve teknolojiler temelinde geliştirilmiş bir bakım olarak belirtilen genomik sağlık bakım kavramı ortaya çıkarmıştır. Pediatri hemşireleri, sıklıkla hastanede yatmayı gerektirebilecek genetik hastalıkları olan çocuklara bakım veren sağlık ekibinin kilit üyesidir. Genetik hastalık ve riskleri hakkında giderek daha fazla bilgi arayan asemptomatik çocuklara ve ailelere yardım etmeye hazırlıklı olmalıdırlar. Bu kapsamda etkin bakım sunabilmeleri için yeterli genetik ve genomik okuryazarlık düzeyine sahip olmalıdırlar. Çünkü onlar çocuğun koruyucu, savunucu ve danışmanlık rollerini üstlenmektedirler. Genomik sağlık bakımı kapsamında bu rolleri ancak genetik/genomik bilgilerinin, yeterliliklerinin farkında olarak ve sağlık bakımına entegre ederek yerine getirebilirler. Bu kapsamda, bu makalede pediatri hemşireliğinde genetik/genomik kavramlarının görev ve sorumluluklar, eğitim, klinik uygulama ve yenidoğan taramaları konulari tartışılmıştır

Anahtar Kelimeler

Pediatri, Hemşire, genetik/genomik

Genetics / Genomic in Pediatric Nursing

Öz

Genetics is a branch of science that studies the structure and functions of genes and investigates the inheritance of genetic traits. Genomics is a new discipline that describes how all genes work together, interact with each other, and their environmental impact. Genomic science has emerged as an extremely important science for all healthcare professionals, with the completion of the human genome project. In recent years, it has been observed that genomic information and technologies are used more frequently in the stages of disease prevention, screening, diagnosis, treatment and evaluation of treatment efficiency, and that genomics science is more integrated into health services. This situation is explained by the concept of genomic health care, which is defined as a care developed to use genomic information and technologies to provide early intervention, rapid and accurate diagnosis and risk assessment for genetic diseases. Pediatric nurses are key members of the healthcare team that often caring for children with genetic diseases that may require hospitalization. They must be prepared to assist asymptomatic children and families who are increasingly seeking information about genetic disease and its risks. In this context, it is expected that they should gain genetic and genomic literacy in order to provide effective care. Because they take on the child's protective, advocacy and counseling roles. They can fulfill these roles within the context of genomic healthcare only by being aware of their genetic / genomic knowledge, competencies and integrating them into health care. In this context, it will be useful to evaluate the genetics / genomic concepts in pediatric nursing by considering the duties and responsibilities, education, clinical practice and neonatal screening.

Anahtar Kelimeler

Pediatric, Nursing, genetic/genomic

Kaynakça

• 1. Ward LD, French BF, Barbosa-Leiker C, Iverson AEF. Application of exploratory factor analysis and ıtem response theory to validate the genomic nursing concept ınventory. Journal of Nursing Education. 2016;55(1):9–17. doi:10.3928/01484834-20151214-05
• 2. Ward LD, Purath J, Barbosa-Leiker C. Assessment of genomic literacy among baccalaureate nursing students in the United States. Nurse Educator. 2016;41(6):313–318. doi:10.1097/nne.0000000000000272
• 3. Read CY, Ward LD. Misconceptions About genomics among nursing faculty and students. Nurse Educator. 2018;43(4):196–200. doi:10.1097/nne.0000000000000444
• 4. Calzone KA, Jenkins J, Nicol N, Skirton H, Feero WG, Green ED. Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship. 2013;45(1):1–2.
• 5. Ball J, Binler R, Cowen K, Shaw M. Principles of pediatric nursing caring for children. 7th edition, 2017. Pearson Education, United States.
• 6. Rew L, Mackert M, Bonevac D. Cool, but is it credible? Adolescents’ and parents’ approaches to genetic testing. Western Journal of Nursing Research. 2010;32(5):610–627. DOI: 10.1177/0193945909360781.
• 7. Aiello L, Calzone K. Precision medicine: preparing nurses in genomics for today’s healthcare. Dean’s Notes-Anthony J. Jannetti, 2018;40(2):1-4.
• 8. Consensus panel on genetic/genomic nursing competencies (2006). Essential Nursing Competencies and curricula guidelines for genetics and genomics (1st ed). Silver Spring, MD: American Nurses Association.
• 9. Camak DJ. Increasing importance of genetics in nursing. Nurse Education Today. 2016;44:86 91.http://dx.doi.org/10.1016/j.nedt.2016.05.018
• 10. Coleman B, Calzone KA, Jenkins J, Paniagua C, Rivera R, Hong OS, et al. Multi-ethnic minority nurses’ knowledge and practice of genetics and genomics. Journal of Nursing Scholarship. 2014;46(4):235–244. doi:10.1111/jnu.12083.
• 11. Access to Genomic Healthcare: The Role of the Nurse (ISONG), 2010. Available online: https://www.isong.org/resources/Documents/PS_Access_Genomic_Healthcare.pdf (accessed on 5 January 2021)
• 12. Williams JK, Cashion AK. Using clinical genomics in health care: Strategies to create a prepared workforce. Nursing Outlook. 2015;1-3.http://dx.doi.org/10.1016/j.outlook.2015.04.001.
• 13. Aiello-Laws LB. Genetics and genomics nursing has arrived. Oncology Nursing Forum, 2013;40(1):20-21.
• 14. Khoury MJ, Feero WG, Reyes M, Citrin T, Freedman A, Leonard D, et al. The genomic applications in practice and prevention network. Genetics in Medicine. 2009;11(7):488-494.
• 15. Anderson G, Alt-White A, Schaa KL, Boyd AM, Kasper CE. Genomics for nursing education and practice: Measuring competency. Worldviews on Evidence-Based Nursing. 2015;12(3):165–175.
• 16. Wright H, Zhao L, Birks M, Mills J. Genomic literacy of registered nurses and midwives in australia: A cross-­sectional­survey. Journal of Nursing Scholarship. 2018;1–10. doi:10.1111/jnu.12440.
• 17. Hickey KT, Taylor JY, Barr TL, Hauser NR, Riga TC, Katapodi M. Nursing genetics and genomics: The international society of nurses in genetics (ISONG) survey. Nurse Education Today. 2018;63:12-17. doi:10.1016/j.nedt.2018.01.002.
• 18. Mahon MS. Complexities of genetic care: Implications for advanced practice nurses. The Journal for Nurse Practitioners. 2012;8(8):e23-e27.http://dx.doi.org/10.1016/j.nurpra.2012.04.020.
• 19. Weng HJ, Niu DM, Turale S, Tsao LI, Shih FJ, Yamamoto-Mitani N, Chang CC, Shih, FJ. Family caregiver distress with children having rare genetic disorders: A qualitative study involving Russell–Silver Syndrome in Taiwan. Journal of Clinical Nursing. 2011;21:160–169 doi: 10.1111/j.1365-2702.2010.03583.x
• 20. Roberts DF, Foehr UG. Trends in media use. The Future of Children. 2008;18(1):11-37
• 21. Gaff CL, Clarke AJ, Atkinson P, Sivell S, Elwyn G, Iredale R, et al. Process and outcome in communication of genetic information within families: A systematic review. European Journal of Human Genetics. 2007;15(10):999–1011.doi:10.1038/sj.ejhg.5201883
• 22. Metcalfe A, Coad J, Plumridge GM, Gill P, Farndon P. Family communication between children and their parents about inherited genetic conditions: A meta-synthesis of the research. European Journal of Human Genetics. 2008;16(10):1193–1200. doi:10.1038/ejhg.2008.84
• 23. Driessnack M, Gallo AM. Children ‘Draw-and-Tell’ their knowledge of genetics. Continuing Nursing Education Pedıatric Nursing.2013;39(4):173-180.
• 24. Medin DL, Atran S. The native mind: Biological Categorization and reasoning in development and across cultures. Psychological Review. 2004;111(4):960-983.
• 25. Tsui CY, Treagust DF. Understanding genetics: Analysis of secondary students’ conceptual status. Journal of Research in Science Teaching. 2007;44(2):205–235.doi:10.1002/tea.20116
• 26. Ross LF, Saal HM., Anderson RR, David KL. Ethical and policy ıssues in genetic testing and screening of children. Pediatrics. 2013;131:620–622. Doi:10.1542/Peds.2012-3680
• 27. Impact of expanded newborn screening—United Status, 2006. Available online: www. cdc.gov/mmwr/preview/mmwrhtml/mm5737a2.htm , (acccessed on 5 January 2021)
• 28. The ICN Code of Ethics for Nurses, Revised 2021. Available online: https://www.nzno.org.nz/Portals/0/Files/Documents/Consultation/Sue%20Gasquoine%20Feedback%202020-08-11/2020-11-11%20CoE_Version%20for%20Consultation_October%202020_EN.pdf?ver=IgEV1G-xTMg4UIaBMDf5Cw%3D%3D (accessed on 23 April 2021).
• 29. Godino L, Turchetti D, Skirton H. Knowledge of genetics and the role of the nurse in genetic healthcare: A survey of Italian nurses. Journal of Advanced Nursing. 2012;00(0):000–000. doi: 10.1111/j.1365-2648.2012.06103.x
• 30. Monsen RB, Anderson G, New F, Ledbetter S, Frazier LG, Smith M.E, Wilson M. Nursing education and genetics: Miles to go before we sleep. Nursing and Health Care Perspectives. 2000;21(1):34-37.
• 31. Lessick M, Anderson L. Genetic discoveries: Challenges for nurses who care for children and their families. Journal of Specialists in Pediatric Nursing. 2000;5 (1):47-51. doi:10.1111/j.1744-6155.2000.tb00085.x
• 32. Hemşirelik Yönetmeliği (Ek.R.G-19/4/2011-27910-Ek2) Çalışılan Birim/Servis/Ünite/Alanlara Göre Hemşirelerin Görev, Yetki Ve Sorumlulukları, Available online: https://www.mevzuat.gov.tr/mevzuatmetin/yonetmelik/7.5.13830-ek-2%20ve%203.htm. (accessed on 13 November 2020).
• 33. Connors L, Schorn M. Genetics and genomics content in nursing education: A national ımperative. Journal of Professional Nursing. 2018;34:235–237. https://doi.org/10.1016/j.profnurs.2018.06.003
• 34. Erdemir F, Uysal G. Genetic, Genomic Science in Nursing Dokuz Eylül Üniversitesi Hemşirelik Fakültesi Elektronik Dergisi. 2010;3(2):96-101.
• 35. Position Statement: Direct-to-Consumer Genetic/Genomic Testing (DTC-GT) ISONG, 2017. Available online: https://www.isong.org/resources/Documents/PS_DTC%20GT%20Position%20Statement_Approved%20October%202017.pdf (accessed on 5 January 2021)
• 36. Ward LD. Using biology education research and qualitative ınquiry to ınform genomic nursing education. Nurse Educator. 2017;42(6): 303–307.doi:10.1097/nne.0000000000000378
• 37. Cragun DL, Couch SC, Prows CA, Warren NS, Christianson CA. Success of a genetics educational intervention for nursing and dietetic students: A model for incorporating genetics into nursing allied health curricula. Journal of Allied Health. 2005;34(2):90-96
• 38. Hetteberg CG, Prows CA, Deets C, Monsen RB, Kenner CA. National survey of genetics content in basic nursing preparatory programs in the United States. Nursing Outlook. 1999;47(4):168-174.
• 39. St-Martin G, Bedard A, Nelmes J, Bedard JEJ. Preparing nurses for genetic medicine: ıntegration of a brief education session in an undergraduate nursing curriculum. Journal of Nurse Education. 2017;56(3):170-173. doi:10.3928/01484834-20170222-09
• 40. Tomatir AG, Sorkun HC, Demirhan HA, Akbag B. Nurses’ professed knowledge of genetics and genetic counseling. Tohuku Journal Exp. Med. 2006;210(4):321-332.
• 41. Skirton H, O’Connor A, Humphreys A. Nurses’ competence in genetics: A mixed method systematic review. Journal of Advanced Nursing. 2012;00(0):000–000. doi: 10.1111/j.1365-2648.2012.06034.x
• 42. Godino L, Skirton H. A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice. 2012; 2(3):173-184. 10.5430/jnep.v2n3p173
• 43. Seven M, Akyüz A, Elbüken B, Skirton H, Öztürk H. Nurses’ knowledge and educational needs regarding genetics. Nurse Education Today. 2015;35(3):444–449. doi:10.1016/j.nedt.2014.11.008
• 44. Terzioğlu F. Nurses’ views on their role in genetics. Journal of Obstetric, Gynecologic, and Neonatal Nursing. 2003;33(6):756-764.
• 45. Vural BK, Tomatir AG, Kurban NK, Taşpınar A. Nursing students’ self-reported knowledge of genetics and genetic education. Public Health Genomics. 2009;12:225-232
• 46. Collins C, Stiles A. Predictors of student outcomes on perceived knowledge and competence of genetic family history risk assessment. Journal of Professional Nursing. 2011;27:101-107. doi:10.1016/j.profnurs.2010.09.007
• 47. Sharoff L. Perceived genetic knowledge among pre-licensure undergraduate nursing students. Journal of Nursing Education and Practice .2017a;7 (2):10-17. DOI: 10.5430/jnep.v7n2p10
• 48. Sharoff L. Comparison of perceived genetic-genomic knowledge of nurse educators and graduate degree nursing students. Journal of Nursing Education and Practice. 2017b;7(9):67-77. doi.org/10.5430/jnep.v7n9p67
• 49. Aydın Acar Ç, Demet D. Genetics in Nursing Education Process Göller Bölgesi Aylık Hakemli Ekonomi ve Kültür Dergisi 2017; Ayrıntı Sayı 55: 11-15.
• 50. Gallo AM, Angst DB, Knafl KA. Disclosure of genetic ınformation within families: How nurses can facilitate family communication. American Journal of Nursing. 2009;109(4):65–69. doi:10.1097/01.NAJ.0000348607.31983.6e.
• 51. Privacy and Confidentiality of Genetic Information: The Role of the Nurse, ISONG, 2018. Available online: https://www.isong.org/resources/Documents/ISONG%20Position%20Statement_Privacy%20and%20Confidentiality%20of%20Genetic%20Information%20approved%20May%201%202018.pdf (accessed on 5 January 2021)
• 52. DeLuca J, Zanni KL, Bonhomme N, Kemper AR. Implications of newborn screening for nurses. Journal of Nursing Scholarship. 2013;45(1);25–33. doi: 10.1111/jnu.12005
• 53. İçke S, Genç RE.  National Newborn Screening Tests Carried Out with Heel Lance and Their Importance The Journal of Pediatric Research. 2017;4(4);186-90. DOI:10.4274/jpr.22932
• 54. Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı (NTP), Available online: https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.html (accessed on 5 January 2021).
• 55. Newborn Screening: The Role of the Nurse, ISONG, 2020. Available online: https://www.isong.org/resources/Documents/Newborn%20ScreeningThe%20Role%20of%20the%20Nurse%20Updated%20Nov%202020.pdf (accessed on 5 January 2021).