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Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria. Over 7 years, patients were referred from tertiary centres across Ireland to an academic medical centre as part of the Irish Kidney Gene Project.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among 677 patients, the mean age was of 37.2\u2009\u00b1\u200913\u00a0years, and 73.9% of the patients had family history of chronic kidney disease (CKD). We achieved a molecular diagnostic rate of 50.9%. Four genes accounted for more than 70% of identified pathogenic variants:\n                      <jats:italic>PKD1<\/jats:italic>\n                      and\n                      <jats:italic>PKD2<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009186, 53.4%),\n                      <jats:italic>MUC1<\/jats:italic>\n                      (8.9%), and\n                      <jats:italic>COL4A5<\/jats:italic>\n                      (8.3%). In 162 patients with a genetic diagnosis, excluding\n                      <jats:italic>PKD1<\/jats:italic>\n                      \/\n                      <jats:italic>PKD2<\/jats:italic>\n                      , the a priori diagnosis was confirmed in 58% and in 13% the diagnosis was reclassified. A genetic diagnosis was established in 22 (29.7%) patients with CKD of uncertain aetiology. Based on genetic testing, a diagnostic kidney biopsy was unnecessary in 13 (8%) patients. Presence of family history of CKD and the underlying a priori diagnosis were independent predictors (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001) of a positive genetic diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A dedicated GKD clinic is a valuable resource, and its implementation of various genomic strategies has resulted in a direct, demonstrable clinical and therapeutic benefits to affected patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Graphical abstract<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1007\/s40620-021-01236-2","type":"journal-article","created":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T10:02:58Z","timestamp":1643623378000},"page":"1655-1665","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8689-8602","authenticated-orcid":false,"given":"Elhussein A. 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S.L.M. reports educational grant from Amgen. D.M.C. was supported by funding from the Health Research Board, Ireland (HPF-2016\u20131674), and received International Pediatric Research Foundation Early Investigators\u2019 Exchange Program Award and Irish Nephrology Society Amgen Specialist Registrar Research Bursary. F.H. is the William E. Harmon Professor of Paediatrics. This research is supported by a grant from the National Institutes of Health to FH (5R01DK076683-13). M\u017d and SK\u00a0were\u00a0supported by the Ministry of Health of the Czech Republic\u00a0(Grant NU21-07-00033),\u00a0the Ministry of Education of the Czech Republic (Grant LTAUSA19068)\u00a0and by institutional programs of Charles University in Prague (UNCE\/MED\/007 and PROGRES-Q26\/LF1). The National Center for Medical Genomics (LM2018132) kindly provided MUC1 sequencing. CK, SC, CC, CS, MAL, KK, AJB, MZ, SK, NKF, BD, AD, MDG, LC, PCH, FH, GLC, KAB, and PJC have nothing to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Ethical approval was sought and granted by the Ethics\nReview Board of Beaumont Hospital (REC 19\/28).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"All patients gave explicit informed consent to participate.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}