Genetsko savjetovanje u eri genomske medicine

master's thesis

• Title (english): Genetic counseling in the era of genomic medicine
• Author: Valentina Terihaj
• Mentor: Ljiljana Šerman (mentor)
• Committee member: Nives Pećina-Šlaus (predsjednik povjerenstva)
• Committee member: Tamara Nikuševa Martić (član povjerenstva)
• Committee member: Ljiljana Šerman (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Biology); Zagreb
• Defense date and country: 2023-09-19, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Medical Microbiology

Abstract

Od 1947. kada je prvi put upotrijebljen izraz „genetsko savjetovanje“ definicije su se mijenjale, a danas je aktualna ova koja poseban naglasak stavlja na psihoterapeutski aspekt savjetovanja. Ono slijedi načelo ne-direktivnog pristupa što znači da genetski savjetnik ostaje neutralan pri iznošenju informacija, a donošenje odluke je na pacijentu. Za razliku od genetike koja proučava funkciju i organizaciju pojedinih gena, područje genomike je šire i proučava sve gene nekog organizma i njihovo međudjelovanje. Završetak Projekta humanog genoma (eng. Human Genome Project) i razvoj sekvenciranja nove generacije (eng. Next-Generation Sequencing) označava prekretnicu u genetskom savjetovanju i testiranju, a nove tehnologije molekularne dijagnostike postaju sve raširenije u kliničkoj medicini. U današnje vrijeme u testiranju na nasljedni karcinom dojke i jajnika fokus nije samo na najpoznatijim genima BRCA1 i BRCA2, nego se, zahvaljujući NGS-u i multigenskim panelima, istovremeno može testirati na mnogo različitih gena, a sam proces je jednostavniji i jeftiniji. Svojevrsni nedostatak NGS-a je veći broj varijanata nejasnog značenja (eng. variant of uncertain significance) koje su zahtjevnije za interpretaciju i mogu potaknuti anksioznost kod ispitanika. Zadatak genetskog savjetnika je da na najprikladniji način informira pacijenta o rezultatima i pruži psihološku potporu.

Abstract (english)

Since the term "genetic counseling" was first used in 1947, definitions have changed, with the current one emphasizing the psychotherapeutic aspect of counseling. It follows the principle of a non-directive approach, meaning that the genetic counselor remains neutral when presenting information, and the decision-making is up to the patient. Unlike genetics, which studies the function and organization of individual genes, genomics is a broader field that studies all the genes of an organism and their interactions. The completion of the Human Genome Project and development of Next-Generation Sequencing (NGS) marked a turning point in genetic counseling and testing, with new molecular diagnostic technologies becoming more common in clinical medicine. Nowadays, testing for hereditary breast and ovarian cancer is not only focused on the most well-known BRCA1 and BRCA2 genes. Thanks to NGS and multi-gene panels, it is now possible to simultaneously test for many different genes, making the process simpler and more affordable. A potential downside of NGS is the higher number of detected variants of uncertain significance, which are more challenging to interpret and can cause anxiety in patients. Genetic counselor's task is to inform the patient about the results in a way that is simple to understand and provide psychological support.

• Keywords: genetsko savjetovanje; genomska medicina; genetsko testiranje
• Keywords (english): genetic counseling; genomic medicine; genetic testing
• Language: croatian
• URN:NBN: urn:nbn:hr:105:953374
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-11-02 10:47:43