Title Preventive genomics Title (croatian) Preventivna genomika Author Annalise Rafaela Bricca Mentor Mario Ćuk (mentor)Committee member Mario Ćuk (predsjednik povjerenstva)Committee member Daniel Dilber (član povjerenstva)Committee member Marija Jelušić (član povjerenstva)Granter University of Zagreb Defense date and country 2021-07-16, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Preventive genomics may very well be the most advanced emerging field in pediatric medicine to date. Considered to be in its infancy at about 20 years old, the use of genomic medicine became a reality with the completion of the Human Genome Project in 2001. It is a new, developing field and with the potential to predict a child’s future health so profound it must be understood as the way to prevent future suffering for children. The birth of a phenotypically healthy baby belies their genetic undercurrent, which may contain mutations manifesting as devastating disorders. Historically, standardized newborn screening has been done on all infants at birth, with the goal of detecting and diagnosing disorders as early as possible. Commonly screened disorders include phenylketonuria, sickle cell disease and cystic fibrosis among other endocrine and metabolic disorders. This screening protocol only focuses on selected disorders and therefore has become limited in scope for early diagnoses of many serious genetic diseases. Traditionally, genome sequencing is only performed after a child has presented with symptoms of a disorder. Preventive genomics has changed this narrative to preemptively detect disorders before any symptom is present and before any indication of illness is found. The medical uses of genomic sequencing in children are myriad but we also found that the ethics of presymptomatic detection of adult-onset disorders has faced controversy. In question are ethical implications of testing when children are not capable of consent, and the long-term effects it may have on them with the awareness of what their medical future holds. In this review, we examine the history of the field of genomic medicine and its potential to change the course of disease, leading to better outcomes in pediatric patients. In particular, we explore how genomics can be used to advance the diagnosis of genetic disorders and decrease the time to diagnosis in utero, infancy, and childhood. We also probe the role of genomic sequencing and its capability to identify disorders far earlier than ever before, allowing for the possibility of gene therapy and cures for those children who are affected.
Abstract (croatian) Preventivna je genomika vjerojatno najnaprednije nastajuće polje dječje medicine do danas. Iako se smatra da je, sa svojih dvadesetak godina, genomika još uvijek u povojima, postala je stvarnost završetkom Projekta humanog genoma 2001. godine. Genomika je novo polje medicine u razvoju te ima tako značajan potencijal pri predviđanju zdravlja djeteta nakon
rođenja da mora biti prihvaćeno kao način sprečavanja budućih patnji djece. Rođenje fenotipski zdravog djeteta proturječi genetskom podrijetlu ako sadržava mutacije koje se manifestiraju kao razorni poremećaji. Povijesno gledano, novorođenčad je podvrgnuta standardiziranom probiru pri rođenju kako bi se mogući poremećaji što ranije otkrili i dijagnosticirali. Ovakav probir novorođenčadi, uz ostale endokrine i metaboličke poremećaje, obično uključuje fenilketonuriju, bolest srpastih stanica i cističnu fibrozu. Budući da ovaj protokol probira u središtu pozornosti ima samo odabrane poremećaje, postao je ograničen u ranoj dijagnostici mnogih ozbiljnih genetskih bolesti. Tradicionalno, sekvencioniranje genoma provodi se tek nakon što dijete pokaže simptome poremećaja. Preventivna genomika promijenila je ovakav pristup dijagnostici jer se poremećaj otkriva preventivno, prije nego što je prisutan bilo koji simptom ili naznaka
bolesti. Bezbroj je medicinskih uporaba genomskog sekvencioniranja kod djece, međutim presimptomatsko otkrivanje poremećaja izazvalo je kontroverze kod odraslih. U pitanju su etičke posljedice testiranja, s obzirom na to da djeca nisu sposobna pristati na testiranje te na dugoročne učinke koje to može imati na njih ako je unaprijed jasno kakva je njihova medicinska budućnost. Ovaj pregledni rad predstavit će povijest genomske medicine i njezin potencijal mijenjanja tijeka
bolesti što dovodi do boljih ishoda u liječenju djece. Naglasak će biti na istraživanju korištenja genomike za napredovanje u dijagnostici genetskih poremećaja te smanjenju vremena za dijagnostiku u trudnoći, dojenačkoj dobi i djetinjstvu. Također, ispitat će se uloga genetskog sekvencioniranja i njegova sposobnost prepoznavanja poremećaja mnogo ranije no ikada prije što dopušta mogućnost genske terapije i liječenja pogođene djece.
Keywords
genomics
phenylketonuria
sickle cell disease
cystic fibrosis
genome sequencing
presymptomatic detection of disorders
ethics
Keywords (croatian)
genomika
fenilketonurija
bolest srpastih stanica
cistična fibroza
sekvencioniranje genoma
presimptomatsko otkrivanje poremećaja
etika
Language english URN:NBN urn:nbn:hr:105:789592 Study programme Title: Medicine (in English language) Type of resource Text File origin Born digital Access conditions Open access Terms of use Public note Pohranitelj objekta unio ključne riječi. Created on 2021-12-22 12:42:53
