Search results for "genomic testing"

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Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…

2020

Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…

0301 basic medicineOncologyMaleCancer ResearchCandidate genePharmacogenomic VariantsCancer survivorsCHILDRENAnti-neoplastic drugsVARIANTSOCT2Carboplatin0302 clinical medicineHearingRisk FactorsNeoplasmsTPMTHearing / drug effectsProspective StudiesAge of OnsetChild610 Medicine & healthPREDICTORSmedia_commonHearing Loss Sensorineural / physiopathologyeducation.field_of_studyddc:618Thiopurine methyltransferasebiologycarboplatin [Cisplatin]Neoplasms / drug therapyOrganic Cation Transporter 2EuropeOncologyCisplatin: carboplatinCisplatin / adverse effects030220 oncology & carcinogenesisChild PreschoolOrganic Cation Transporter 2 / geneticsFemaleSENSITIVITYChildhood cancer360 Social problems & social servicesCohort studyDrug-induced ototoxicitymedicine.medical_specialtyINDUCED HEARING-LOSSAdolescentMulticenter cohort studyHearing Loss SensorineuralPopulationAdverse drug reactionAntineoplastic AgentsPolymorphism Single NucleotideRisk AssessmentHearing Loss Sensorineural / chemically inducedCarboplatin / adverse effects03 medical and health sciencesACYP2OtotoxicitySDG 3 - Good Health and Well-beingInternal medicinemedicineGenetic predispositionmedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseCISPLATIN-INDUCED OTOTOXICITYEuropean unioneducationGenetic Association StudiesGenetic associationRetrospective Studiesbusiness.industryAntineoplastic Agents / adverse effectsInfant NewbornInfantOdds ratioGuidelinemedicine.diseaseOtotoxicityCOMTPharmacogenomic Testing030104 developmental biologyCross-Sectional StudiesPharmacogeneticsbiology.proteinGenetic markersHearing Loss Sensorineural / geneticsCisplatinbusinessPharmacogenetics
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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

2019

The expanding use of genomic technologies encompasses all phases of life, from the embryo to the elderly, and even the posthumous phase. In this paper, we present the spectrum of genomic healthcare applications, and describe their scope and challenges at different stages of the life cycle. The integration of genomic technology into healthcare presents unique ethical issues that challenge traditional aspects of healthcare delivery. These challenges include the different definitions of utility as applied to genomic information; the particular characteristics of genetic data that influence how it might be protected, used and shared; and the difficulties applying existing models of informed con…

Computer scienceclinical utilityReviewDiseasegenomic testingmolecular diagnostics03 medical and health sciencesHuman health0302 clinical medicineHealthcare deliverygenetic diseaseInformed consentHealth caregenomics030212 general & internal medicineScope (project management)business.industrylcsh:Public aspects of medicine030503 health policy & servicesPublic Health Environmental and Occupational Healthhealthcarelcsh:RA1-1270Genomic technologyEngineering ethicsPublic Healthgenomic dataPersonalized medicine0305 other medical sciencebusinessFrontiers in Public Health
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