title: Genomics in the renal clinic - translating nephrogenetics for clinical practice.
abstract: Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of kidney-specific as well as multi-organ entities, many with highly variable phenotype-genotype relationships. The rapid increase in knowledge and reduced cost of sequencing translate to new and additional approaches to clinical care. Specifically, genomic technologies to test for known genes, the development of pathways to research potential new genes and the collection of registry data on patients with mutations allow better prediction of outcomes. The aim of such approaches is to maximise personal and health-system utility from genomics for those affected by nephrogenetic disorders.
authors.affiliation: Kidney Health Service & Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Brisbane, Qld, 4029, Australia. Andrew.mallett@health.qld.gov.au.|Centre for Kidney Disease Research, CKD.QLD and Centre for Chronic Disease, School of Medicine, The University of Queensland, Brisbane, Australia. Andrew.mallett@health.qld.gov.au.|Centre for Rare Diseases Research, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia. Andrew.mallett@health.qld.gov.au.
authors.forename: Andrew
authors.initials: A
authors.lastname: Mallett
authors.affiliation: Kidney Health Service & Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Brisbane, Qld, 4029, Australia.|Centre for Kidney Disease Research, CKD.QLD and Centre for Chronic Disease, School of Medicine, The University of Queensland, Brisbane, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Corney
authors.affiliation: Department of Paediatric Nephrology, Children's Hospital at Westmead, Sydney, Australia.|Centre for Kidney Research, University of Sydney, Sydney, Australia.
authors.forename: Hugh
authors.initials: H
authors.lastname: McCarthy
authors.affiliation: Department of Paediatric Nephrology, Children's Hospital at Westmead, Sydney, Australia.|Centre for Kidney Research, University of Sydney, Sydney, Australia.|Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
authors.forename: Stephen I
authors.initials: SI
authors.lastname: Alexander
authors.affiliation: Kidney Health Service & Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Brisbane, Qld, 4029, Australia.|Centre for Kidney Disease Research, CKD.QLD and Centre for Chronic Disease, School of Medicine, The University of Queensland, Brisbane, Australia.
authors.forename: Helen
authors.initials: H
authors.lastname: Healy
mesh_terms: D023281:Genomics / Q000379:methods*; D006801:Humans; D009154:Mutation; D009398:Nephrology / Q000379:methods*; D051436:Renal Insufficiency, Chronic / Q000235:genetics* / Q000473:pathology; D057170:Translational Research, Biomedical / Q000379:methods*