Genetik, Genetik Hastalıklar ve Hemşirelik Yaklaşımı
Özet
Genetik ve genom bilimi, insan sağlığı ve hastalığının sürekliliği anlayışını yeniden tanımlamaktadır. Temel olarak tüm hastalıklar ve durumlar genetik veya genomik bir bileşene sahip olduğundan, tüm insanlara yönelik bakım seçenekleri, önleme, tarama, teşhis, prognostik, tedavi seçimi ve tedavi etkinliğinin izlenmesi yollarındaki genetik ve genomik bilgileri giderek daha fazla içerecektir. Genetik ve genomik bilginin klinik uygulamasının, akademik hazırlık, rol veya uygulama ortamına bakılmaksızın tüm hemşirelik mesleği için önemli etkileri vardır. Hemşirenin bakım sağlarken genetik ve genomik bilgi ve teknolojiyi kullanması giderek daha fazla önem kazanmaktadır. Bakım süreci boyunca genomik yaklaşımın uygulanmasındaki ilerleme oranı sadece teknolojik ilerlemelere değil aynı zamanda hemşirelik uzmanlığına da bağlıdır. Kişilere/ailelere/topluluklara ve/veya popülasyonlara yaşamları boyunca bakım sağlamak için hemşirelerin, genetik ve genomik bilgileri uygulamalarına dahil etme konusunda yeterlilik göstermeleri gerekecektir. Hemşireler; kişinin bakım aradığı sağlığın ve/veya hastalığın genetik ve genomik temelini ve kişinin tepkisini etkileyen değişkenleri anlamalı, genetik metabolizma hatalarından kaynaklanan hastalık veya ölüm riski taşıyan yenidoğanı tanımalı, kalıtsal kolon kanseri açısından yüksek risk altında olan asemptomatik bir ergeni belirleyebilmeli, genetik rahatsızlığı olan bir çocuğa sahip olma riski taşıyan bir çifti belirleyebilmeli, genç yetişkinlerde kardiyovasküler hastalığın önlenmesine yönelik müdahalelere rehberlik edebilmeli, kanserli bir yetişkinin tedavisinde moleküler belirteçlere dayalı olarak ilaç seçimini veya dozajını kolaylaştırabilmeli, genetik araştırmaya katılımın risklerini, yararlarını ve sınırlamalarını içeren bilgilendirilmiş onayı teşvik edebilmeli, genetik ve genomik bilgi veya hizmetler hakkında sorusu olan herkese yol gösterebilmelidirler.Bu bölümde temel genetik kavramlar, genetik hastalıklar, genetik danışmanlık ve hemşirenin rolleri açıklanmıştır.
Referanslar
Genomics & Precision Health, Genetics Basics. (19.02.2024 tarihinde https://www.cdc.gov/genomics/about/basics.htm adresinden ulaşılmıştır).
Genomics & Precision Health, Glossary of Terms. (19.02.2024 tarihinde https://www.cdc.gov/genomics/about/basics.htm adresinden ulaşılmıştır).
Genetics. National Library of Medicine (NIH) (19.02.2024 tarihinde https://medlineplus.gov/ency/article/002048.htm adresinden ulaşılmıştır).
Jones KL, Jones MC, Campo M. Genetics, genetic counseling, and prevention. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Deformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 2.
Nussbaum RL, McInnes RR, Willard HF. Patterns of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 7.
Scott DA, Lee B. Patterns of genetic transmission. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 97.
Feero WG, Zazove P, Chen F. Clinical genomics. In: Rakel RE, Rakel DP, eds. Textbook of Family Medicine. 9th ed. Philadelphia, PA: Elsevier; 2016:chap 43.
Gregg AR, Kuller JA. Human genetics and patterns of inheritance. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 1.
Jones KL, Jones MC, Campo M. Genetics, genetic counseling, and prevention. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Deformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 2.
Korf BR. Principles of genetics. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 35.
Jorde LB, Carey JC, Bamshad MJ. Sex-linked and nontraditional modes of inheritance. In: Jorde LB, Carey JC, Bamshad MJ, eds. Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 5.
Marcdante KJ, Kliegman RM, Schuh AM. Chromosomal disorders. In: Marcdante KJ, Kliegman RM, Schuh AM, eds. Nelson Essentials of Pediatrics. 9th ed. Philadelphia, PA: Elsevier; 2023:chap 49.
Sorbara JC, Wherrett DK. Disorders of sex development. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 89.
Yesilcinar I, Seven M, Sahin E, Calzone K Genetics and genomic competency of Turkish nurses: A descriptive cross-sectional study. Nurse Education Today. 2022;109(105239): 1-7. Doi: 10.1016/j.nedt.2021.105239.
Cortés-Martín J, Peñuela NL, Sánchez-García JC, et al. R. Deletion Syndrome 22q11.2: A Systematic Review. Children 2022; 9:1168. https://doi.org/10.3390/children9081168.
Lee AC, Kamalam A, Adams SM, Jobling MA. Molecular evidence for absence of Y-linkage of the Hairy Ears trait. Eur J Hum Genet. 2004 Dec;12(12):1077-9. doi: 10.1038/sj.ejhg.5201271. PMID: 15367914.
Genetic Counseling. (11.03.2024 tarihinde https://www.nursinghero.com/study-files/4691727 adresinden ulaşılmıştır).
Genetic Counseling. (11.03.2024 tarihindehttps://www.researchgate.net/publication/268522964_Genetic_counseling#fullTextFileContent adresinden ulaşılmıştır).
American Board of Genetic Counseling (2012). Genetic counselors’scope of practice. (11.03.2024 tarihinde http://www.abgc.net/docs/GC_Scope_of_prractice_final.pdf adresinden ulaşılmıştır).
Godino L, Turcheti D. & Skirton H. Knowledge of genetics and the role of the nurse in genetic healthcare: a survey of Italian nurses. Journal of Advanced Nursing 2013;69(5):1125–1135. doi: 10.1111/j.1365-2648.2012.06103.x
Barr JA, Tsai LP, Welch A. et al. Current practice for genetic counselling by nurses: An integrative review. Int J Nurs Pract. 2018;24:e12629. https://doi.org/ 10.1111/ijn.12629.
Seven M, Akyüz A, Elbüken B. et al. Nurses' knowledge and educational needs regarding genetics. Nurse Education Today. 2015;35(3): 444–449. https://doi.org/10.1016/j.nedt.2014.11.008
Blondeaux E, Lambertini M, Buzzatti G. et al. Experience with a nurse-driven genetic counseling pathway of Italian women with uninformative BRCA test result. Journal of Genetic Counseling. 2023;32:140–152.https://doi.org/10.1002/jgc4.1630
Referanslar
Genomics & Precision Health, Genetics Basics. (19.02.2024 tarihinde https://www.cdc.gov/genomics/about/basics.htm adresinden ulaşılmıştır).
Genomics & Precision Health, Glossary of Terms. (19.02.2024 tarihinde https://www.cdc.gov/genomics/about/basics.htm adresinden ulaşılmıştır).
Genetics. National Library of Medicine (NIH) (19.02.2024 tarihinde https://medlineplus.gov/ency/article/002048.htm adresinden ulaşılmıştır).
Jones KL, Jones MC, Campo M. Genetics, genetic counseling, and prevention. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Deformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 2.
Nussbaum RL, McInnes RR, Willard HF. Patterns of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 7.
Scott DA, Lee B. Patterns of genetic transmission. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 97.
Feero WG, Zazove P, Chen F. Clinical genomics. In: Rakel RE, Rakel DP, eds. Textbook of Family Medicine. 9th ed. Philadelphia, PA: Elsevier; 2016:chap 43.
Gregg AR, Kuller JA. Human genetics and patterns of inheritance. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 1.
Jones KL, Jones MC, Campo M. Genetics, genetic counseling, and prevention. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Deformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 2.
Korf BR. Principles of genetics. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 35.
Jorde LB, Carey JC, Bamshad MJ. Sex-linked and nontraditional modes of inheritance. In: Jorde LB, Carey JC, Bamshad MJ, eds. Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 5.
Marcdante KJ, Kliegman RM, Schuh AM. Chromosomal disorders. In: Marcdante KJ, Kliegman RM, Schuh AM, eds. Nelson Essentials of Pediatrics. 9th ed. Philadelphia, PA: Elsevier; 2023:chap 49.
Sorbara JC, Wherrett DK. Disorders of sex development. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 89.
Yesilcinar I, Seven M, Sahin E, Calzone K Genetics and genomic competency of Turkish nurses: A descriptive cross-sectional study. Nurse Education Today. 2022;109(105239): 1-7. Doi: 10.1016/j.nedt.2021.105239.
Cortés-Martín J, Peñuela NL, Sánchez-García JC, et al. R. Deletion Syndrome 22q11.2: A Systematic Review. Children 2022; 9:1168. https://doi.org/10.3390/children9081168.
Lee AC, Kamalam A, Adams SM, Jobling MA. Molecular evidence for absence of Y-linkage of the Hairy Ears trait. Eur J Hum Genet. 2004 Dec;12(12):1077-9. doi: 10.1038/sj.ejhg.5201271. PMID: 15367914.
Genetic Counseling. (11.03.2024 tarihinde https://www.nursinghero.com/study-files/4691727 adresinden ulaşılmıştır).
Genetic Counseling. (11.03.2024 tarihindehttps://www.researchgate.net/publication/268522964_Genetic_counseling#fullTextFileContent adresinden ulaşılmıştır).
American Board of Genetic Counseling (2012). Genetic counselors’scope of practice. (11.03.2024 tarihinde http://www.abgc.net/docs/GC_Scope_of_prractice_final.pdf adresinden ulaşılmıştır).
Godino L, Turcheti D. & Skirton H. Knowledge of genetics and the role of the nurse in genetic healthcare: a survey of Italian nurses. Journal of Advanced Nursing 2013;69(5):1125–1135. doi: 10.1111/j.1365-2648.2012.06103.x
Barr JA, Tsai LP, Welch A. et al. Current practice for genetic counselling by nurses: An integrative review. Int J Nurs Pract. 2018;24:e12629. https://doi.org/ 10.1111/ijn.12629.
Seven M, Akyüz A, Elbüken B. et al. Nurses' knowledge and educational needs regarding genetics. Nurse Education Today. 2015;35(3): 444–449. https://doi.org/10.1016/j.nedt.2014.11.008
Blondeaux E, Lambertini M, Buzzatti G. et al. Experience with a nurse-driven genetic counseling pathway of Italian women with uninformative BRCA test result. Journal of Genetic Counseling. 2023;32:140–152.https://doi.org/10.1002/jgc4.1630
