Razmah komercialnih genetskih in genomskih testiranj ter izzivi za medicinske sestre
pregled literature
DOI:
https://doi.org/10.14528/snr.2025.59.4.3264Ključne besede:
elektivna genomika, genetsko svetovanje, genomska pismenost, zdravstvena negaPovzetek
Uvod: Razvoj genetike in genomike pomeni nove možnosti v medicini in zdravstveni negi. Genetsko testiranje, ki je osnova za te klinične dejavnosti, se je pojavilo tudi kot komercialna, samoplačniška spletna storitev. Namen pregleda literature je ugotoviti izzive za zdravstveno nego v povezavi z razvojem trga komercialnih genetskih in genomskih testiranj.
Metode: Uporabljena je deskriptivna metoda dela s pregledom razpoložljive literature. V bazah PubMed/Medline, CINAHL Ultimate in ScienceDirect je bilo z uporabo Boolovih operaterjev izvedeno iskanje po ključnih besedah direct-to-consumer testing, genetic counselling in nursing ter sopomenkah. Zajeta je bila literatura v angleškem jeziku, ki ni bila starejša od deset let. Od zajetih 280 zadetkov je bilo analiziranih 12 člankov, ki so bili ovrednoteni glede na dokazno moč. Uporabljena je bila metoda tematske analize.
Rezultati: Identificirane so štiri glavne teme: izkušnje zdravstvenih delavcev s komercialnim genetskim ali genomskim testiranjem, informiranje o komercialnem genetskem ali genomskem testiranju, kompetence medicinskih sester in vprašanje regulacije komercialnega genetskega in genomskega testiranja.
Diskusija in zaključek: Na opisanem področju je malo empiričnih raziskav in znanstvene literature. Za splošno spopadanje z genomiko medicinske sestre potrebujejo ustrezno znanje. Smiselno je nadaljnje raziskovanje z že validiranimi vprašalniki, izdelava prototipne učne vsebine o komercialnem testiranju za medicinske sestre in oblikovanje ekspertnih mnenj po metodi Delfi o pomenu in načinih osveščanja različnih javnosti glede problematike komercialnega genetskega in genomskega testiranja.
Prenosi
Literatura
Aleman, K. M., Chipman, M., Peck, J. L., Hughes, A. K., & Murphey, C. (2022). Direct-to-consumer genetic and genomic testing with associated implications for advanced nursing practice. Journal of the American Association of Nurse Practitioners, 34(2), 381–388. https://doi.org/10.1097/JXX.0000000000000624 PMid:34107502
Beccia, F., Hoxhaj, I., Sassano, M., Stojanovic, J., Acampora, A., Pastorino, R., & Boccia, S. (2023). Survey of professionals of the European Public Health Association (EUPHA) towards direct-to-consumer genetic testing. European Journal of Public Health, 33(1), 139–145. https://doi.org/10.1093/eurpub/ckac139 PMid:36179240 PMCid:PMC9898004
Blix, A. (2014). Personalized medicine, genomics, and pharmacogenomics: A primer for nurses. Clinical Journal of Oncology Nursing, 18(4), 437–441. https://doi.org/10.1188/14.CJON.437-441 PMid:25095297
Calzone, K. A., Jenkins, J., Yates, J., Cusack, G., Wallen, G. R., Liewehr, D. J., Steinberg, S. M., & McBride, C. (2012). Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship, 44(4), 428–436. https://doi.org/10.1111/j.1547-5069.2012.01475.x PMid:23205780 PMCid:PMC3515630
Dinulos, M. B. P., & Vallée, S. E. (2020). The impact of direct-to-consumer genetic testing on patient and provider. Clinics in Laboratory Medicine, 40(1), 61–67. https://doi.org/10.1016/j.cll.2019.11.003 PMid:32008640
Durmaz, A. A., Karaca, E., Demkow, U., Toruner, G., Schoumans, J., & Cogulu, O. (2015). Evolution of genetic techniques: Past, present, and beyond. BioMed Research International, 2015, Article 461524. https://doi.org/10.1155/2015/461524 PMid:25874212 PMCid:PMC4385642
Flowers, E., Leutwyler, H., & Shim, J. K. (2020). Direct-to-consumer genomic testing: Are nurses prepared? Nursing, 50(8), 48–52. https://doi.org/10.1097/01.NURSE.0000684200.71662.09 PMid:32618766 PMCid:PMC7410263
Founds, S. (2014). Innovations in prenatal genetic testing beyond the fetal karyotype. Nursing Outlook, 62(3), 212–218. https://doi.org/10.1016/j.outlook.2013.12.010 PMid:24582171
Greco, K. E., Tinley, S., & Seibert, D. (2011). Essential genetic and genomic competencies for nurses with graduate degrees. Annual Review of Nursing Research, 29(1), 173–190. https://doi.org/10.1891/0739-6686.29.173 PMid:22891504
Jackson, L., Goldsmith, L., & Skirton, H. (2014). Guidance for patients considering direct-to-consumer genetic testing and health professionals involved in their care: Development of a practical decision tool. Family Practice, 31(3), 341–348. https://doi.org/10.1093/fampra/cmt087 PMid:24473677
Janzen, T. (2022, October 19). Autosomal DNA testing comparison chart. International Society of Genetic Genealogy. https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart
Kalokairinou, L., Howard, H. C., Slokenberga, S., Fisher, E., Flatscher-Thöni, M., Hartlev, M., van Hellemondt, R., Juškevičius, J., Kapelenska-Pregowska, J., Kováč, P., Lovrečić, L., Nys, H., de Paor, A., Phillips, A., Prudil, L., Rial-Sebbag, E., Romeo Casabona, C. M., Sándor, J., Schuster, A., … Borry, P. (2018). Legislation of direct-to-consumer genetic testing in Europe: A fragmented regulatory landscape. Journal of Community Genetics, 9(2), 117–132. https://doi.org/10.1007/s12687-017-0344-2 PMid:29150824 PMCid:PMC5849704
Katz, A. E., Nussbaum, R. L., Solomon, B. D., Rehm, H. L., Williams, M. S., & Biesecker, L. G. (2020). Management of secondary genomic findings. American Journal of Human Genetics, 107(1), 3–14. https://doi.org/10.1016/j.ajhg.2020.05.002 PMid:32619490 PMCid:PMC7332641
Kiger, M. E., & Varpio, L. (2020). Thematic analysis of qualitative data: AMEE guide No. 131. Medical Teacher, 42(8), 846–854. https://doi.org/10.1080/0142159x.2020.1755030 PMid:32356468
Klein, E. L. Z. (2014). The increasing role of genetics and genomics in women's health. Nursing for Women's Health, 18(2), 149–153. https://doi.org/10.1111/1751-486X.12111 PMid:24750654
Klopčič, N., Novak, S., Kerševan, T., Babuder, B., Blatnik, A., Strojnik, K., & Krajc, M. (2022). Klinična pot in obseg dela genomskega svetovalca v procesu obravnave pacienta v ambulanti za onkološko genetsko svetovanje in testiranje oddelka za onkološko klinično genetiko. Onkološki inštitut Ljubljana. https://www.onko-.si/fileadmin/onko/datoteke/Strokovna_knjiznica/klinicne_poti/Klinicna_pot_in_obseg_dela_genomskega_svetovalca_v_procesu_obravnave_pacienta_2022.pdf
Krajc, M., Blatnik, A., Kerševan, T., & Hotujec, S. (2020). Klinična pot obravnave pacienta v ambulanti za onkološko genetsko svetovanje in testiranje. Onkološki inštitut Ljubljana. https://www.onko-.si/fileadmin/onko/datoteke/Strokovna_knjiznica/klinicne_poti/Klinicna_pot_obravnave_pacienta_v_Ambulanti_za_onkolosko_genetsko_svetovanje_in_testiranje_2020.pdf
Krajc, M., Novaković, S., Žgajnar, J., Hočevar, M., & Vrečar, A. (2014). Multidisciplinarni tim za onkološko genetsko svetovanje in testiranje. In S. Novaković, B. Zakotnik, & J. Žgajnar (Eds.), 27. Onkološki vikend: Multidisciplinarna obravnava bolnikov v onkologiji: Zbornik (pp. 52–58). Kancerološko združenje SZD, Onkološki inštitut.
Kregar Velikonja, N., Prosenc, B., & Peterlin, B. (2022). Genomsko informiranje: Program za izpopolnjevanje zdravstvenih delavcev, ki delajo na področju genetike in sodelujejo z genetskimi svetovalci. Utrip, 30(3), 97–98. https://arhiv.zbornica-zveza.si/wp-content/uploads/2022/07/UTRIP_Junij-julij_2022_splet_dopolnitev1.pdf
Mahon, S. M. (2012). Complexities of genetic care: Implications for advanced practice nurses. The Journal for Nurse Practitioners, 8(8), e23–e27. https://doi.org/10.1016/j.nurpra.2012.04.020
Mahon, S. M. (2018). Direct-to-consumer genetic testing: Helping patients make informed choices. Clinical Journal of Oncology Nursing, 22(1), 33–36. https://doi.org/10.1188/18.CJON.33-36 PMid:29350705
Martins, M. F., Murry, L. T., Telford, L., & Moriarty, F. (2022). Direct-to-consumer genetic testing: An updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns. European Journal of Human Genetics, 30(12), 1331–1343. https://doi.org/10.1038/s41431-022-01205-8 PMid:36220915 PMCid:PMC9553629
McGrath, S. P., Walton, N., Williams, M. S., Kim, K. K., & Bastola, K. (2019). Are providers prepared for genomic medicine: Interpretation of direct-to-consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. BMC Health Services Research, 19(1), Article 844. https://doi.org/10.1186/s12913-019-4679-8 PMid:31760949 PMCid:PMC6876107
Munn, Z., Pollock, D., Khalil, H., Alexander, L., McInerney, P., Godfrey, C. M., Peters, M., & Tricco, A. C. (2022). What are scoping reviews: Providing a formal definition of scoping reviews as a type of evidence synthesis. JBI Evidence Synthesis, 20(4), 950–952. https://doi.org/10.11124/JBIES-21-00483 PMid:35249995
National Human Genome Research Institute. (2020, August 17). Genome-wide association studies fact sheet. https://www.genome.gov/about-genomics/fact-sheets/Genome-Wide-Association-Studies-Fact-Sheet
Orlando, A. W., & Rosoff, A. J. (2019). The new privacy crisis: What's health got to do with it? American Journal of Medicine, 132(2), 127–128. https://doi.org/10.1016/j.amjmed.2018.09.033 PMid:30367855
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., Chou, R., Glanville, J., Grimshaw, J. M., Hróbjartsson, A., Lalu, M. M., Li, T., Loder, E. W., Mayo-Wilson, E., McDonald, S., … Moher, D. (2021). The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. British Medical Journal, 372, Article n71. https://doi.org/10.1136/bmj.n71 PMid:33782057 PMCid:PMC8005924
Polit, D. F., & Beck, C. T. (2022). Essentials of nursing research: Appraising evidence for nursing practice (10th ed.). Wolters Kluwer.
Razširjeni strokovni kolegij za medicinsko genetiko. (2018). 1. seja RSK za medicinsko genetiko 2018. Ministrstvo za zdravje. https://www.gov.si/assets/ministrstva/MZ/DOKUMENTI/staro/2-DRZAVNI-ORGANI-MZ/5-O-ministrstvu/RSK/1.-seja-RSK-za-medicinsko-genetiko-2018.pdf
Reed, E. K., & Edelman, E. A. (2018). Direct-to-consumer genetic testing for breast cancer risk. Journal of the American Association of Nurse Practitioners, 30(10), 548–550. https://doi.org/10.1097/JXX.0000000000000146 PMid:30320707
Saleh, M., Kerr, R., & Dunlop, K. (2019). Scoping the scene: What do nurses, midwives, and allied health professionals need and want to know about genomics? Frontiers in Genetics, 10, Article 1066. https://doi.org/10.3389/fgene.2019.01066 PMid:31781159 PMCid:PMC6861370
Sequencing. (n.d.). Genetic counseling. https://sequencing.com/marketplace/genetic-counseling
Skirton, H., Lewis, C., Kent, A., Farndon, P., Bloch-Zupan, A., & Coviello, D. (2008). Suggested core competences for health professionals who are generalists or specialising in a field other than genetics. European Society of Human Genetics. https://www.eshg.org/fileadmin/www.eshg.org/documents/CoreCompetence03GeneralistsAndNonGeneticSpecialists.pdf
Skirton, H., Lewis, C., Kent, A., Kosztolanyi, G., Goetz, P., Hodgson, S., Kucinskas, V., Ozcelik, T., Cornel, M., & Coviello, M. S. D. (2008). Suggested core competences for genetic specialists. European Society of Human Genetics. https://www.eshg.org/fileadmin/www.eshg.org/documents/CoreCompetence04GeneticSpecialists.pdf
Snyder, M. (2016). Genomics and personalised medicine: What everyone needs to know. Oxford University Press. https://doi.org/10.1093/wentk/9780190234775.001.0001
Starkweather, A. R., Coleman, B., Barcelona de Mendoza, V., Fu, M. R., Menzies, V., O'Keefe, M., & Williams, J. K. (2018). Strengthen federal regulation of laboratory-developed and direct-to-consumer genetic testing. Nursing Outlook, 66(1), 101–104. https://doi.org/10.1016/j.outlook.2017.11.004 PMid:29331443
Sweet, K. M., & Michaelis, R. C. (2011). The busy physician’s guide to genetics, genomics and personalized medicine. Springer. https://doi.org/10.1007/978-94-007-1147-1 PMCid:PMC7270990
Taylor, N. P. (2022, October 3). Illumina ushers in $200 genome with the launch of new sequencers. MedTech Dive. https://www.medtechdive.com/news/illumina-ushers-in-200-genome-with-the-launch-of-new-sequencers/633133/
Teran, N., Brezigar, A., Vokač, N. K., Peterlin, B., Petrovič, D., & Writzl, K. (2014). Mnenje strokovnega sveta za medicinsko genetiko o genetskih preiskavah in komercializaciji genetskih preiskav v Sloveniji. Revija ISIS, 23(8/9), 18–21. https://www.zdravniskazbornica.si/docs/default-source/ISIS/2014/isis2014-08-09.pdf
Tolan, N. V., & Nerenz, R. D. (2020). Direct-to-consumer testing: The role of laboratory medicine physicians and scientists. Clinics in Laboratory Medicine, 40(1), ix–x. https://doi.org/10.1016/j.cll.2019.12.002 PMid:32008644
Vrecar, I., Peterlin, B., Teran, N., & Lovrecic, L. (2015). Direct-to-consumer genetic testing in Slovenia: Availability, ethical dilemmas and legislation. Biochemia Medica, 25(1), 84–89. https://doi.org/10.11613/BM.2015.010 PMid:25672471 PMCid:PMC4401315
Ward, L. D., Haberman, M., & Barbosa-Leiker, C. (2014). Development and psychometric evaluation of the genomic nursing concept inventory. Journal of Nursing Education, 53(9), 511–518. https://doi.org/10.3928/01484834-20140806-04 PMid:25102130
Wysocki, K., & Osier, N. (2019). Direct to consumer versus clinical genetic testing. Journal of the American Association of Nurse Practitioners, 31(3), 152–155. https://doi.org/10.1097/JXX.0000000000000211 PMid:30839387
Zavarovalnica Sava. (n.d.). Preventivna genetska analiza GenePlanet. Zavarovalnica Sava, d. d. https://www.zav-sava.si/zavarovanja-in-asistence/zavarovanja/nikoli-sami-v-zivljenju/geneplanet
Zavarovalnica Triglav. (n.d.). S poznavanjem lastnih genov do boljšega življenjskega sloga. Zavarovalnica Triglav, d. d. https://www.triglav.si/genetska-analiza-dnk/
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