Komercialna genetska in genomska testiranja: izziv in priložnost za zdravstveno nego : diplomsko delo

Vrhovnik, Tjaša (avtor), Milavec Kapun, Marija (mentor), Pajnič, Manca (recenzent)

Uvod: Razvoj genetike in genomike je prinesel nove možnosti diagnostike, zdravljenja in preprečevanja bolezni. Genetsko testiranje, ki je osnova za te klinične dejavnosti, se je pojavilo tudi kot komercialna, samoplačniška storitev, ki jo najpogosteje lahko naročimo prek spleta. Ta storitev praviloma ne dosega standardov genetskega testiranja v kliničnem okolju. Namen: Namen diplomskega dela je bil identificirati izzive, ki jih hitri razvoj komercialnih storitev na področju genetike in genomike predstavlja za zdravstveno nego. Metode dela: Uporabili smo deskriptivno metodo dela s pregledom literature. V bibliografskih bazah PubMed/Medline, CINAHL Ultimate, ScienceDirect in Cochrane Library smo z uporabo Boolovih operaterjev iskali po ključnih besedah direct-to-consumer testing, genetic counselling in nursing ter sopomenkah. Zajemali smo literaturo v angleškem jeziku, ki ni bila starejša od deset let. V analizo smo vključili 12 člankov, ki smo jih glede na dokazno moč ovrednotili po osemstopenjski lestvici. Rezultati: S pregledom literature smo identificirali štiri glavne teme: osveščenost in usposobljenost zdravstvenih delavcev za obravnavo pacientov, ki želijo ali so opravili komercialno genetsko ali genomsko testiranje, izobraževanje medicinskih sester o problematiki prek objav v znanstvenih in strokovnih revijah, razprave o kompetencah medicinskih sester v povezavi s komercialnimi testiranji in razprave o regulaciji tega področja. Razprava in zaključek: Glavna ugotovitev je, da je na opisanem področju izjemno malo empiričnih raziskav in malo znanstvene literature. Za uspešno spopadanje s komercialnim genomskim testiranjem medicinske sestre potrebujejo ustrezno izobrazbo, ki bo s prihodom genomike na najširša področja medicine postala nujna. Predlagamo raziskave z že validiranimi vprašalniki, izdelavo prototipne učne vsebine o komercialnem testiranju za medicinske sestre in oblikovanje ekspertnih mnenj po metodi Delfi o pomenu in načinih osveščanja različnih javnosti o problematiki komercialnega genetskega in genomskega testiranja.

• Jezik: Slovenski jezik
• Ključne besede: diplomska dela, zdravstvena nega, komercialno genetsko in genomsko testiranje, genetsko svetovanje
• Vrsta gradiva: Diplomsko delo/naloga
• Tipologija: 2.11 - Diplomsko delo
• Organizacija: ZF - Zdravstvena fakulteta
• Kraj izida: Ljubljana
• Založnik: [T. Vrhovnik Mlekuž]
• Leto izida: 2023
• Št. strani: 61 str., [3] str. pril.
• PID: 20.500.12556/RUL-149099
• UDK: 616-083
• COBISS.SI-ID: 163265539
• Datum objave v RUL: 03.09.2023

VRHOVNIK, Tjaša, 2023, Komercialna genetska in genomska testiranja: izziv in priložnost za zdravstveno nego : diplomsko delo [na spletu]. Diplomsko delo. Ljubljana : T. Vrhovnik Mlekuž. [Dostopano 11 april 2025]. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=149099

Sekundarni jezik

• Jezik: Angleški jezik
• Naslov: Direct-to-consumer genetic and genomic testing: a challenge and an opportunity for nursing : diploma work

Izvleček

Introduction: Recent developments in genetics and genomics have brought new possibilities for diagnostics, treatment and prevention of disease, but genetic testing, as a basis of these clinical activities, has also emerged as a commercial service, offered directly to the consumer. These are usually web-based services that generally do not meet the standards of genetic testing in clinical settings. Purpose: The purpose was to identify the challenges that commercial genetic and genomic testing represents for nursing. Methods: We conducted a literature review. The search terms used to identify studies were direct-to-consumer, nursing, genetic counselling and their synonyms. As a result of searching in PubMed / Medline, CINAHL Ultimate, ScienceDirect and Cochrane Library, 12 papers were identified. Their evidence strength was evaluated using an eight-level scale. Results: Four main themes were identified: awareness and competence of health professionals about direct-to-consumer genetic testing, informing the nurses about the topic through scientific and professional papers, discussions about nurses' competencies in relation to commercial testing and concerns about the lack of regulation of these kinds of services. Discussion and conclusion: There is an extremely small amount of empirical research and scientific literature in the field of direct-to-consumer genetic testing in relation to nursing. Nevertheless, it is clear from the analysis of the literature that dealing with commercial genomic testing will require nurses with adequate education, which will also be necessary in the era of genomic medicine. We propose research with validated questionnaires, the creation of prototype teaching content about commercial testing for nurses and a Delphi method for identification of expert opinions of the importance of educating various segments of the public about the issue of commercial genetic and genomic testing.

• Ključne besede: diploma theses, nursing care, direct-to-consumer genomic and genetic testing, genetic counselling