Vloga medicinske sestre pri genetskem svetovanju v službah za genetsko diagnostiko in svetovanje : diplomsko delo

Vasić, Branka (author), Mihelič Zajec, Andreja (mentor), Kregar Velikonja, Nevenka (co-mentor)

Uvod: Razvoj genetike in genomike, ki smo mu priča v zadnjih letih, je opazen na vseh ravneh zdravstvenega varstva in pri vseh zdravstvenih delavcih. Zdravstveni sistem potrebuje specifično izobražene zdravstvene sodelavce, tako medicinske sestre, bioinformatike in laboratorijske medicinske genetike, ki so nepogrešljivi v vsakdanji klinični genetski praksi. Zaradi tega je nujno, da se v izobraževanje v zdravstveni negi vključi sodobna znanja iz genetike in genomike. Namen: Želeli smo opredeliti, kako trenutno poteka usposabljanje medicinskih sester na področju genetike, opredeliti vlogo in naloge, ki jih imajo v ambulanti za genetsko svetovanje, ter raziskati pomanjkljivosti izobraževanja medicinske sestre v genetiki. Metode dela: Za opredelitev teoretičnih izhodišč smo pregledali strokovno literaturo v podatkovnih zbirkah Medline (PubMED), CINAHL in Cochrane Library. Pri iskanju smo postavili časovni okvir od leta 1962 do leta 2019. Iskanje literature je potekalo v angleškem jeziku s ključnimi besedami genetic nurse AND education, genetics, genomics, education AND training, role of genetic nurse. Za izvedbo empiričnega dela raziskave smo anketirali zdravnike in medicinske sestre, ki delajo na področju klinične genetike ali pa so posredno povezani z njo. Rezultati: Analiza odgovorov medicinskih sester in zdravnikov je pokazala, da izobraževanje oziroma strokovno izpopolnjevanje medicinskih sester na področju klinične genetike poteka predvsem na ravni samoiniciativnosti in da bi si medicinske sestre želele formalno izobraževanje. Naloge medicinske sestre so naročanje in triažiranje bolnikov, odvzem krvi za genetsko testiranje in jemanje družinske anamneze. Razprava in zaključek: Opredelili smo sedanjo vlogo medicinske sestre pri genetskem svetovanju v službah za genetsko diagnostiko in svetovanje v Sloveniji ter ugotovili, da zdravstveni sistem potrebuje formalno izobraževanje za profil medicinske sestre v gentiki. S formalnim izobraževanjem na podiplomskem študiju, ki bi vključevalo predvsem znanje medicinske genetike in diagnostičnih postopkov v genetiki, ter nadaljnjim stalnim izpopolnjevanjem in spremljanjem novosti bi medicinska sestra pridobila ustrezno usposobljenost za samostojno delo v genetski ambulanti, pa tudi za izobraževalno in raziskovalno dejavnost. Ključne besede: medicinska sestra v genetiki, genetika, genomika, izobraževanje, usposabljanje.

• Language: Slovenian
• Keywords: medicinska sestra v genetiki, genetika, genomika, izobraževanje, usposabljanje
• Work type: Bachelor thesis/paper
• Organization: ZF - Faculty of Health Sciences
• Year: 2019
• PID: 20.500.12556/RUL-113293
• COBISS.SI-ID: 5756779
• Publication date in RUL: 19.12.2019

Secondary language

• Language: English
• Title: The role of a nurse in genetic counseling in the services of genetic diagnostics and counseling : diploma work

Abstract

Introduction: The development of genetics and genomics, which we have witnessed in recent years, is noticeable at all levels of the health system and all medical profiles. The modern healthcare system requires specially trained healthcare associates, such as nurses, bioinformaticians and laboratory medical genetics, which are indispensable in everyday clinical genetic practice. Therefore, it is essential that advances in genetics and genomics should be incorporated in formal education in health care. Purpose: We wanted to define how nurses are trained in genetics, to identify the role and tasks in the genetics and to investigate the shortcomings of nurse education in genetics. Methods: For the theoretical starting points, we examined the literature in the databases, Medline (PubMED), CINAHL in the Cochrane Library. In the search, we set a time frame from 1976 to 2019. The literature search was conducted in English with the key words of the genetic nurse and education, genetics, genomics, education and training, role of genetic nurse. For the practical part, we distributed survey questionnaires among medical doctors, clinical geneticists, and nurses who work in clinical genetic field. Results: By analysing the responses of nurses and doctors to the questionnaire, we found out that education and training of nurses in the genetic field is mostly self-initiative, that nurses would prefer formal education, and that nurses’ tasks are calling for appointments and patient triage, blood withdrawal for testing and taking family history. Discussion and conclusion: We determined the current role and tasks of nurse in genetic counseling in the services for genetic diagnostics in Slovenia and showed that the modern health system in Slovenia needs formal education for the profile of a genetic nurse. With formal education in postgraduate study, which would incorporate in particular knowledge of medical genetics and diagnostic genetic procedures and further continued education, genetic nurses will get appropriate knowledge and skills for independent work in reference genetic clinics or for educational and research activities. Keywords: genetic nurse, genetics, genomics, education, training.

• Keywords: genetic nurse, genetics, genomics, education, training