TY - JOUR
T1 - Genetics in chronic kidney disease :
T2 - conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
AU - Köttgen, Anna
AU - Cornec-Le Gall, Emilie
AU - Halbritter, Jan
AU - Kiryluk, Krzysztof
AU - Mallett, Andrew
AU - Parekh, Rulan
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
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
AU - Scolari, Francesco
AU - Sedor, John R.
AU - Sim, Xueling
AU - Somlo, Stefan
AU - Susztak, Katalin
AU - Tayo, Bamidele O.
AU - Torra Balcells, Roser
AU - van Eerde, Albertien M.
AU - Weinstock, André
AU - Winkler, Cheryl A.
AU - Wuttke, Matthias
AU - Zhang, Hong
AU - King, Jennifer M.
AU - Cheung, Michael
AU - Jadoul, Michel
AU - Winkelmayer, Wolfgang C.
AU - Gharavi, Ali G.
PY - 2022
Y1 - 2022
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 - https://www.scopus.com/pages/publications/85129357908
U2 - 10.1016/j.kint.2022.03.019
DO - 10.1016/j.kint.2022.03.019
M3 - Article
C2 - 35460632
SN - 0085-2538
VL - 101
SP - 1126
EP - 1141
JO - Kidney International
JF - Kidney International
IS - 6
ER -