Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

KDIGO Conference Participants

doi:10.1016/j.kint.2022.03.019

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

KDIGO Conference Participants

Research output: Contribution to journal › Article › peer-review

Abstract

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.

Original language	English (US)
Pages (from-to)	1126-1141
Number of pages	16
Journal	Kidney international
Volume	101
Issue number	6
DOIs	https://doi.org/10.1016/j.kint.2022.03.019
State	Published - Jun 2022

Keywords

genetic kidney disease
genetic testing
genome-wide association studies
monogenic
polygenic
single-nucleotide polymorphism

ASJC Scopus subject areas

Nephrology

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10.1016/j.kint.2022.03.019

Cite this

@article{060833de55aa48f2ba98c50cc5752c55,

title = "Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference",

abstract = "Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.",

keywords = "genetic kidney disease, genetic testing, genome-wide association studies, monogenic, polygenic, single-nucleotide polymorphism",

author = "{KDIGO Conference Participants} and Anna K{\"o}ttgen and {Cornec-Le Gall}, Emilie and Jan Halbritter and Krzysztof Kiryluk and Mallett, {Andrew J.} and Parekh, {Rulan S.} and Rasouly, {Hila Milo} and Sampson, {Matthew G.} and Adrienne Tin and Corinne Antignac and Elisabet Ars and Carsten Bergmann and Bleyer, {Anthony J.} and Detlef Bockenhauer and Olivier Devuyst and Florez, {Jose C.} and Fowler, {Kevin J.} and Nora Franceschini and Masafumi Fukagawa and Gale, {Daniel P.} and Gbadegesin, {Rasheed A.} and Goldstein, {David B.} and Grams, {Morgan E.} and Anna Greka and Oliver Gross and Guay-Woodford, {Lisa M.} and Harris, {Peter C.} and Julia Hoefele and Hung, {Adriana M.} and Knoers, {Nine V.A.M.} and Kopp, {Jeffrey B.} and Matthias Kretzler and Lanktree, {Matthew B.} and Lipska-Zi{\c e}tkiewicz, {Beata S.} and Kathleen Nicholls and Kandai Nozu and Akinlolu Ojo and Afshin Parsa and Cristian Pattaro and York Pei and Pollak, {Martin R.} and Rhee, {Eugene P.} and Simone Sanna-Cherchi and Judy Savige and Sayer, {John A.} and Francesco Scolari and Sedor, {John R.} and Xueling Sim and Stefan Somlo and Katalin Susztak",

note = "Funding Information: This conference was sponsored by KDIGO and supported in part by unrestricted educational grants from American Kidney Fund, AstraZeneca, Chinook Therapeutics, Natera, Otsuka, Reata Pharmaceuticals, and Sanofi. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. All Steering Committee Members contributed equally. The conference planning and the drafting and critical revision of this manuscript were performed by the Steering Committee Members, the Conference Co-Chairs, and Jennifer King, with important intellectual content contributions provided by the remaining authors. Funding Information: 1 Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 2 Univ Brest, INSERM UMR 1078, GGB, CHU Brest, Brest, France; 3 Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany; 4 Department of Nephrology and Medical Intensive Care, Charit{\'e}—Universit{\"a}tsmedizin Berlin, Berlin, Germany; 5 Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA; 6 Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia; 7 Department of Nephrology, Townsville University Hospital, Townsville, Queensland, Australia; 8 College of Medicine, James Cook University, Townsville, Queensland, Australia; 9 KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia; 10 Division of Nephrology, Department of Pediatrics and Medicine, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada; 11 Division of Nephrology, Women{\textquoteright}s College Hospital, Toronto, Ontario, Canada; 12 Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; 13 Division of Nephrology, Boston Children{\textquoteright}s Hospital and Harvard Medical School, Boston, Massachusetts, USA; 14 Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 15 Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; 16 Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA; 17 Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Universit{\'e} de Paris, Paris, France; 18 Department of Genetics, Necker Hospital, APHP, Paris, France; 19 Molecular Biology Laboratory, Fundaci{\'o} Puigvert, Instituto de Investigaciones Biom{\'e}dicas Sant Pau (IIB-Sant Pau), Universitat Aut{\`o}noma de Barcelona, Barcelona, Catalonia, Spain; 20 Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; 21 Department of Nephrology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 22 Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA; 23 Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; 24 Department of Renal Medicine, University College London, London, UK; 25 Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; 26 Institut de Recherche Exp{\'e}rimentale et Clinique, UCLouvain, Brussels, Belgium; 27 Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland; 28 Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 29 Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 30 Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA; 31 The Voice of the Patient, Inc., Elmhurst, Illinois, USA; 32 Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA; 33 Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, Isehara, Japan; 34 Rare Renal Disease Registry, UK Renal Registry, Bristol, UK; 35 Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA; 36 Institute for Genomic Medicine, Columbia University, New York, New York, USA; 37 Department of Genetics and Development, Columbia University, New York, New York, USA; 38 Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; 39 Clinic for Nephrology and Rheumatology, University Medical Center G{\"o}ttingen, G{\"o}ttingen, Germany; 40 Center for Translational Science, Children's National Health System, Washington, DC, USA; 41 Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; 42 Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany; 43 VA Tennessee Valley Healthcare System, Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt Center for Kidney Disease, Vanderbilt Precision Nephrology Program, Vanderbilt University Medical Center, Nashville, Tennessee, USA; 44 Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands; 45 Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland, USA; 46 Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA; 47 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA; 48 Division of Nephrology, St. Joseph{\textquoteright}s Healthcare Hamilton, Hamilton, Ontario, Canada; 49 Department of Medicine, McMaster University, Hamilton, Ontario, Canada; 50 Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland; 51 Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia; 52 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; 53 University of Kansas School of Medicine, Kansas City, Kansas, USA; 54 Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA; 55 Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA; 56 Eurac Research, Institute for Biomedicine (affiliated with the University of L{\"u}beck), Bolzano, Italy; 57 Division of Nephrology, University Health Network, Toronto, Ontario, Canada; 58 Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA; 59 Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 60 Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA; 61 Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, Victoria, Australia; 62 Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 63 The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; 64 NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK; 65 Division of Nephrology, ASST Spedali Civili di Brescia, Brescia, Italy; 66 Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy; 67 Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA; 68 Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA; 69 Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, USA; 70 Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore; 71 Department of Internal Medicine, Yale University, New Haven, Connecticut, USA; 72 Department of Genetics, Yale University, New Haven, Connecticut, USA; 73 Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 74 Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 75 Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois, USA; 76 Inherited Kidney Disorders, Nephrology Department, Fundaci{\'o} Puigvert, IIB-Sant Pau, Universitat Aut{\'o}noma de Barcelona, Barcelona, Spain; 77 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; 78 Alport Syndrome Foundation, Phoenix, Arizona, USA; 79 Basic Research Laboratory, Molecular Genetic Epidemiology Section, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, Maryland, USA; 80 Renal Division, Peking University First Hospital, Beijing, China; 81 Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; 82 August Editorial, Durham, North Carolina, USA; 83 KDIGO, Brussels, Belgium; 84 Cliniques Universitaires Saint Luc, Universit{\'e} Catholique de Louvain, Brussels, Belgium; 85 Selzman Institute for Kidney Health, Section of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA Publisher Copyright: {\textcopyright} 2022 Kidney Disease: Improving Global Outcomes (KDIGO). Published by Elsevier Inc. on behalf of the International Society of Nephrology",

year = "2022",

month = jun,

doi = "10.1016/j.kint.2022.03.019",

language = "English (US)",

volume = "101",

pages = "1126--1141",

journal = "Kidney International",

issn = "0085-2538",

publisher = "Nature Publishing Group",

number = "6",

}

TY - JOUR

T1 - Genetics in chronic kidney disease

T2 - conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

AU - KDIGO Conference Participants

AU - Köttgen, Anna

AU - Cornec-Le Gall, Emilie

AU - Halbritter, Jan

AU - Kiryluk, Krzysztof

AU - Mallett, Andrew J.

AU - Parekh, Rulan S.

AU - Rasouly, Hila Milo

AU - Sampson, Matthew G.

AU - Tin, Adrienne

AU - Antignac, Corinne

AU - Ars, Elisabet

AU - Bergmann, Carsten

AU - Bleyer, Anthony J.

AU - Bockenhauer, Detlef

AU - Devuyst, Olivier

AU - Florez, Jose C.

AU - Fowler, Kevin J.

AU - Franceschini, Nora

AU - Fukagawa, Masafumi

AU - Gale, Daniel P.

AU - Gbadegesin, Rasheed A.

AU - Goldstein, David B.

AU - Grams, Morgan E.

AU - Greka, Anna

AU - Gross, Oliver

AU - Guay-Woodford, Lisa M.

AU - Harris, Peter C.

AU - Hoefele, Julia

AU - Hung, Adriana M.

AU - Knoers, Nine V.A.M.

AU - Kopp, Jeffrey B.

AU - Kretzler, Matthias

AU - Lanktree, Matthew B.

AU - Lipska-Ziętkiewicz, Beata S.

AU - Nicholls, Kathleen

AU - Nozu, Kandai

AU - Ojo, Akinlolu

AU - Parsa, Afshin

AU - Pattaro, Cristian

AU - Pei, York

AU - Pollak, Martin R.

AU - Rhee, Eugene P.

AU - Sanna-Cherchi, Simone

AU - Savige, Judy

AU - Sayer, John A.

AU - Scolari, Francesco

AU - Sedor, John R.

AU - Sim, Xueling

AU - Somlo, Stefan

AU - Susztak, Katalin

N1 - Funding Information: This conference was sponsored by KDIGO and supported in part by unrestricted educational grants from American Kidney Fund, AstraZeneca, Chinook Therapeutics, Natera, Otsuka, Reata Pharmaceuticals, and Sanofi. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. All Steering Committee Members contributed equally. The conference planning and the drafting and critical revision of this manuscript were performed by the Steering Committee Members, the Conference Co-Chairs, and Jennifer King, with important intellectual content contributions provided by the remaining authors. Funding Information: 1 Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 2 Univ Brest, INSERM UMR 1078, GGB, CHU Brest, Brest, France; 3 Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany; 4 Department of Nephrology and Medical Intensive Care, Charité—Universitätsmedizin Berlin, Berlin, Germany; 5 Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA; 6 Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia; 7 Department of Nephrology, Townsville University Hospital, Townsville, Queensland, Australia; 8 College of Medicine, James Cook University, Townsville, Queensland, Australia; 9 KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia; 10 Division of Nephrology, Department of Pediatrics and Medicine, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada; 11 Division of Nephrology, Women’s College Hospital, Toronto, Ontario, Canada; 12 Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; 13 Division of Nephrology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, USA; 14 Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 15 Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; 16 Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA; 17 Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France; 18 Department of Genetics, Necker Hospital, APHP, Paris, France; 19 Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain; 20 Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; 21 Department of Nephrology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 22 Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA; 23 Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; 24 Department of Renal Medicine, University College London, London, UK; 25 Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; 26 Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium; 27 Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland; 28 Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 29 Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 30 Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA; 31 The Voice of the Patient, Inc., Elmhurst, Illinois, USA; 32 Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA; 33 Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, Isehara, Japan; 34 Rare Renal Disease Registry, UK Renal Registry, Bristol, UK; 35 Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA; 36 Institute for Genomic Medicine, Columbia University, New York, New York, USA; 37 Department of Genetics and Development, Columbia University, New York, New York, USA; 38 Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; 39 Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany; 40 Center for Translational Science, Children's National Health System, Washington, DC, USA; 41 Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; 42 Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany; 43 VA Tennessee Valley Healthcare System, Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt Center for Kidney Disease, Vanderbilt Precision Nephrology Program, Vanderbilt University Medical Center, Nashville, Tennessee, USA; 44 Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands; 45 Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland, USA; 46 Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA; 47 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA; 48 Division of Nephrology, St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada; 49 Department of Medicine, McMaster University, Hamilton, Ontario, Canada; 50 Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland; 51 Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia; 52 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; 53 University of Kansas School of Medicine, Kansas City, Kansas, USA; 54 Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA; 55 Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA; 56 Eurac Research, Institute for Biomedicine (affiliated with the University of Lübeck), Bolzano, Italy; 57 Division of Nephrology, University Health Network, Toronto, Ontario, Canada; 58 Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA; 59 Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 60 Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA; 61 Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, Victoria, Australia; 62 Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 63 The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; 64 NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK; 65 Division of Nephrology, ASST Spedali Civili di Brescia, Brescia, Italy; 66 Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy; 67 Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA; 68 Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA; 69 Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, USA; 70 Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore; 71 Department of Internal Medicine, Yale University, New Haven, Connecticut, USA; 72 Department of Genetics, Yale University, New Haven, Connecticut, USA; 73 Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 74 Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 75 Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois, USA; 76 Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, IIB-Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain; 77 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; 78 Alport Syndrome Foundation, Phoenix, Arizona, USA; 79 Basic Research Laboratory, Molecular Genetic Epidemiology Section, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, Maryland, USA; 80 Renal Division, Peking University First Hospital, Beijing, China; 81 Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; 82 August Editorial, Durham, North Carolina, USA; 83 KDIGO, Brussels, Belgium; 84 Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium; 85 Selzman Institute for Kidney Health, Section of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA Publisher Copyright: © 2022 Kidney Disease: Improving Global Outcomes (KDIGO). Published by Elsevier Inc. on behalf of the International Society of Nephrology

PY - 2022/6

Y1 - 2022/6

N2 - Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.

AB - Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.

KW - genetic kidney disease

KW - genetic testing

KW - genome-wide association studies

KW - monogenic

KW - polygenic

KW - single-nucleotide polymorphism

UR - http://www.scopus.com/inward/record.url?scp=85129357908&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85129357908&partnerID=8YFLogxK

U2 - 10.1016/j.kint.2022.03.019

DO - 10.1016/j.kint.2022.03.019

M3 - Article

C2 - 35460632

AN - SCOPUS:85129357908

SN - 0085-2538

VL - 101

SP - 1126

EP - 1141

JO - Kidney International

JF - Kidney International

IS - 6

ER -

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

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ASJC Scopus subject areas

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