护理学报 ›› 2021, Vol. 28 ›› Issue (24): 31-35.doi: 10.16460/j.issn1008-9969.2021.24.031
姚溪, 夏梦婷, 黄冉冉, 杨滢瑞
摘要: 目的 对遗传咨询的基本概况、发展进程,以及在护理人员工作中的应用情况进行综述,旨在为临床护理提供依据。方法 检索国内外相关研究文献,从护理人员在遗传咨询工作过程中的角色定位、工作内容,以及我国临床护理人员在遗传咨询方面存在的问题和解决措施等方面进行综述。结果 在临床工作中,护理人员可通过遗传咨询及时发现可能存在的遗传问题并进行早期防治;对可能存在遗传疾病患者进行有效评估和合理监护;还可向患者提供遗传疾病相关的健康教育和指导。结论 我国护理人员在遗传咨询中的作用研究较少,因此借鉴国内外相关研究结果,探索适合我国国情的遗传咨询模式。
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[1] Patch C,Middleton A.Genetic Counselling in the Era of Genomic Medicine[J]. Br Med Bull,2018,126(1):27-36. DOI: 10.1093/bmb/ldy008. [2] 李佩琼,章远志,申本昌,等.遗传咨询为生物技术专业打开就业新局面——遗传咨询的初步教学实践[J].现代职业教育,2020(40):78-80. DOI:10.13700/j.bh.1001-5965.2021.0042. [3] Abacan M, Alsubaie L, Barlow-Stewart K, et al.The Global State of the Genetic Counseling Profession[J]. Eur J Hum Genet,2019,27(2):183-197.DOI:10.1038/s41431-018-0252-x. [4] Medendorp NM, van den Heuvel LM, Han PKJ, et al. Communication Skills Training for Healthcare Professionals in Providing Genetic Counseling: A Scoping Literature Review[J]. Patient Educ Couns,2021,104(1):20-32.DOI:10.1016/j.pec.2020.07.018. [5] 颜宏利,刘燕敏,沈嘉铭,等.基于遗传咨询实践的医学遗传学教学培训体系改革[J].解放军医院管理杂志,2020,27(9):876-877. DOI: 10.16770/J.cnki.1008-9985.2020.09.023. [6] Huggins E, Ong R, Rockman-Greenberg C, et al.Multigenerational Case Examples of Hypophosphatasia: Challenges in Genetic Counseling and Disease Management[J]. Mol Genet Metab Rep,2020, 25:100661.DOI:10.1016/j.ymgmr.2020.100661. [7] Chong SC, Hon KL, Yuen LYP, et al.Neonatal Epidermolysis Bullosa: Lessons to Learn about Genetic Counseling[J]. J Dermatolog Treat ,2021,32(1):29-32.DOI:10.1080/09546634.2018.1527999. [8] Elisabeth King, Suzanne M.Mahon. Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes[J]. Clin J Oncol Nurs,2017, 21(5):223-263. DOI:10.1188/17.CJON.589-598. [9] McReynolds KM, Connors LM. Genomics of Prostate Cancer: What Nurses Need to Know[J]. Semin Oncol Nurs,2019,35(1):79-92. DOI: 10.1016/j.soncn.2018.12.003. [10] Hudson P, Zajo K, Gerhardt CA, et al.Defining the Role of a Genetic Counselor within Pediatric Hematology and Oncology Comprehensive Care Teams: Perspectives of the Provider Team and Patients[J]. J Genet Couns,2019,28(6):1139-1147. DOI: 10.1002/jgc4.1164. [11] Débora Gusmão Melo, Pamela Karen de Paula, Stephania de Araujo Rodrigues, et al. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: Opportunities and Challenges for Professional Education[J].J Community Genet, 2015, 6(3):231-240. DOI:10.1007/s12687-015-0224-6. [12] De La Mota M, Lipov E, Yaipen K, et al. Clinical Experience of Nursing Team in Preconception Genetic Counseling at a Large, Diverse Infertility Practice[J]. Fertility and Sterility,2019,112(3)e90-e96.DOI:10.3343/alm.2018.38.4.291. [13] Underwood PC, Read CY.Genetic Association Studies in Nursing Practice and Scholarship[J]. J Nurs Scholarsh,2008,40(3):212-218.DOI:10.1111/j.1547-5069.2008.00228.x. [14] Derenzo E, Moss J.Writing Clinical Research Protocols: Ethical Considerations[M]. Amsterdam: Elsevier Academic Press, 2006:239-274. [15] Dupuis J, O’Donnell CJ. Interpreting Results of Large-scale Genetic Association Studies: Separating Gold from Fool’s Old[J]. JAMA,2007,297(5):529-531.DOI:10.1001/jama.297.5.529. [16] Wang Z, Moult J. SNPs, Protein Structure,Disease[J]. Human Mutation, 2001, 17(4):263-270.DOI:10.1002/humu.22. [17] Barnoy S, Appel D, Peretz C,et al.Genetic Testing, Genetic Information, and the Role of Maternal-child Health Nurses in Israel[J]. J Nurs Scholarsh,2006,38(3):219-224. DOI: 10.1111/j.1547-5069.2006.00106.x. [18] Skirton H.Recommendations for Education and Training of Genetic Nurses and Counselors in the United Kingdom[J]. J Med Genet,1998,35(5):410-412. DOI:10.1136/jmg.35.5.410. [19] Williams JK, Skirton H, Reed D, et al.Genetic Counseling Outcomes Validation by Genetics Nurses in the UK and US[J]. J Nurs Scholarsh,2001,33(4):369-374. DOI:10.1111/j.1547-5069.2001.00369.x. [20] Skirton H, Arimori N, Aoki M.A Historical Comparison of the Development of Specialist Genetic Nursing in the United Kingdom and Japan[J]. Nurs Health Sci,2006,8(4):231-236. DOI: 10.1111/j.1442-2018.2006.00288.x. [21] Stoll K, Kubendran S, Cohen SA. The Past, Present and Future of Service Delivery in Genetic Counseling: Keeping Up in the Era of Precision Medicine[J]. Am J Med Genet C Semin Med Genet,2018,178(1):24-37.DOI:10.1002/ajmg.c.31602. [22] Halbert C. H., Kessler L., Troxel A. B., et al . Effect of Genetic Counseling and Testing for BRCA1 and BRCA2 Mutations in African-american Women: A Randomized Trial[J].Public Health Genomics, 2010,13(7/8):440-448. DOI: 10.1159/000293990. [23] King MC, Marks JH, Mandell JB.Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2[J]. Science,2003,302:643-646. DOI:10.1126/science.1088759. [24] Pijpe A, Manders P, Brohet RM, et al.Physical Activity and the Risk of Breast Cancer in BRCA1/2 Mutation Carriers[J]. Breast Cancer Res Treat,2009,120:235-244. DOI: 10.1007/s10549-009-0476-0. [25] Halbert CH, Harrison BW.Genetic Counseling among Minority Populations in the Era of Precision Medicine[J]. Am J Med Genet C Semin Med Genet,2018,178(1):68-74. DOI: 10.1002/ajmg.c.31604. [26] Lebet R, Joseph PV, Aroke EN.CE: Knowledge of Precision Medicine and Health Care: An Essential Nursing Competency[J]. Am J Nurs,2019,119(10):34-42. DOI:10.1097/01.NAJ.0000586168.93088.3c. [27] Taylor JY, Barcelona de Mendoza V. Improving -Omics-Based Research and Precision Health in Minority Populations: Recommendations for Nurse Scientists[J]. J Nurs Scholarsh,2018, 50(1):11-19. DOI:10.1111/jnu.12358. [28] Chair SY, Waye MMY, Calzone K, et al.Genomics Education in Nursing in Hong Kong, Taiwan and Mainland China[J]. Int Nurs Rev,2019,66(4):459-466. DOI:10.1111/inr.12537. [29] Dewell S, Benzies K, Ginn C.Precision Health and Nursing: Seeing the Familiar in the Foreign[J]. Can J Nurs Res,2020,52(3):199-208.DOI:10.1177/0844562120945159. [30] Murakami K, Kutsunugi S, Tsujino K, et al.Developing Competencies in Genetics Nursing: Education Intervention for Perinatal and Pediatric Nurses[J]. Nurs Health Sci, 2020,22(2):263-272. DOI:10.1111/nhs.12680. [31] Coleman B, Calzone K, Jenkins J, et al.Multi Ethnic Minority Nurses Knowledge and Practice of Genetics and Genomics[J].J Nurs Scholarsh,2014,46(4):235-244. DOI:10.1111/jnu.12083. [32] Collins CA, Stiles AS.Predictors of Student Outcomes on Perceived Knowledge and Competence of Genetic Family History Risk Assessment[J]. J Prof Nurs, 2011,27(2):101-107.DOI: 10.1016/j.profnurs.2010.09.007. [33] White S, Jacobs C, Phillips J.Mainstreaming Genetics and Genomics: A Systematic Review of the Barriers and Facilitators for Nurses and Physicians in Secondary and Tertiary Care[J]. Genetics in Medicine,2020,22(7):1149-1155.DOI:10.1038/s41436-020-0785-6. [34] van der Giessen J, Fransen MP, Spreeuwenberg P, et al. Communication about Breast Cancer Genetic Counseling with Patients with Limited Health Literacy or a Migrant Background: Evaluation of a Training Program for Healthcare Professionals[J]. J Community Genet,2020, 12(1):91-99. DOI:10.1007/s12687-020-00497-x. [35] Camak DJ.Increasing Importance of Genetics in Nursing[J]. Nurse Educ Today,2016,44:86-91.DOI:10.1016/j.nedt.2016.05.018. [36] Goda H, Kawasaki H, Masuoka Y, et al.Opportunities and Challenges of Integrating Genetics Education about Human Diversity into Public Health Nurses’ Responsibilities in Japan[J]. BMC Nurs,2019,18:65. DOI:10.1186/s12912-019-0391-6. [37] Read CY, Ward LD.Misconceptions About Genomics among Nursing Faculty and Students[J]. Nurse Educ,2018,43(4):196-200. DOI: 10.1097/NNE.0000000000000444. [38] van der Giessen JAM, Ausems M, van den Muijsenbergh M, et al. Systematic Development of a Training Program for Healthcare Professionals to Improve Communication about Breast Cancer Genetic Counseling with Low Health Literate Patients[J]. Fam Cancer 2020, 19(4):281-290. DOI:10.1007/s10689-020-00176-3. [39] Buchanan AH, Datta SK, Skinner CS, et al.Randomized Trial of Telegenetics vs.In-person Cancer Genetic Counseling: Cost, Patient Satisfaction and Attendance[J]. J Genet Couns 2015, 24(6):961-970. DOI: 10.1007/s10897-015-9836-6. |
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