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dc.contributor.authorJayasinghe, K
dc.contributor.authorStark, Z
dc.contributor.authorKerr, PG
dc.contributor.authorGaff, C
dc.contributor.authorMartyn, M
dc.contributor.authorWhitlam, J
dc.contributor.authorCreighton, B
dc.contributor.authorDonaldson, E
dc.contributor.authorHunter, M
dc.contributor.authorJarmolowicz, A
dc.contributor.authorJohnstone, L
dc.contributor.authorKrzesinski, E
dc.contributor.authorLunke, S
dc.contributor.authorLynch, E
dc.contributor.authorNicholls, K
dc.contributor.authorPatel, C
dc.contributor.authorPrawer, Y
dc.contributor.authorRyan, J
dc.contributor.authorSee, EJ
dc.contributor.authorTalbot, A
dc.contributor.authorTrainer, A
dc.contributor.authorTytherleigh, R
dc.contributor.authorValente, G
dc.contributor.authorWallis, M
dc.contributor.authorWardrop, L
dc.contributor.authorWest, KH
dc.contributor.authorWhite, SM
dc.contributor.authorWilkins, E
dc.contributor.authorMallett, AJ
dc.contributor.authorQuinlan, C
dc.date.accessioned2020-11-26T23:20:31Z
dc.date.available2020-11-26T23:20:31Z
dc.date.issued2020-09-17
dc.identifierpii: 10.1038/s41436-020-00963-4
dc.identifier.citationJayasinghe, K., Stark, Z., Kerr, P. G., Gaff, C., Martyn, M., Whitlam, J., Creighton, B., Donaldson, E., Hunter, M., Jarmolowicz, A., Johnstone, L., Krzesinski, E., Lunke, S., Lynch, E., Nicholls, K., Patel, C., Prawer, Y., Ryan, J., See, E. J. ,... Quinlan, C. (2020). Clinical impact of genomic testing in patients with suspected monogenic kidney disease. GENETICS IN MEDICINE, 23 (1), pp.183-191. https://doi.org/10.1038/s41436-020-00963-4.
dc.identifier.issn1098-3600
dc.identifier.urihttp://hdl.handle.net/11343/252192
dc.description.abstractPURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. METHODS: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. RESULTS: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%). CONCLUSION: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.
dc.languageEnglish
dc.publisherSPRINGERNATURE
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0
dc.titleClinical impact of genomic testing in patients with suspected monogenic kidney disease
dc.typeJournal Article
dc.identifier.doi10.1038/s41436-020-00963-4
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.departmentMedicine (RMH)
melbourne.affiliation.departmentCritical Care
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleGenetics in Medicine
melbourne.source.volume23
melbourne.source.issue1
melbourne.source.pages183-191
dc.rights.licenseCC BY-NC-ND
melbourne.elementsid1466191
melbourne.contributor.authorNicholls, Kathleen
melbourne.contributor.authorGaff, Clara
melbourne.contributor.authorLunke, Sebastian
melbourne.contributor.authorWhite, Susan
melbourne.contributor.authorStark, Zornitza
melbourne.contributor.authorQuinlan, Catherine
melbourne.contributor.authorMartyn, Melissa
melbourne.contributor.authorWardrop, Louise
melbourne.contributor.authorSee, Emily
melbourne.contributor.authorSee, Emily
melbourne.contributor.authorTrainer, Alison
dc.identifier.eissn1530-0366
melbourne.accessrightsOpen Access


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