{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T23:27:35Z","timestamp":1783121255706,"version":"3.54.6"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T00:00:00Z","timestamp":1685923200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease. Detection of a genetic variant also identifies the mode of inheritance, and suggests family members at risk. The genetic diagnosis has additional advantages for patients and their doctors even when no specific treatment is available since it often indicates likely complications in other organs, the clinical course, and management strategies. Generally, informed consent is required for genetic testing because the result provides \u201ccertainty\u201d with implications for the patient, and their family, and possibly for employment, and for life and medical insurance, as well as having social, ethical, and financial consequences. Patients want to be provided with a copy of their genetic test result in a format that is comprehensible and to have the result explained. Their at-risk family members should be sought out and offered genetic testing too. Patients who allow the sharing of their anonymised results in registries help advance everyone\u2019s understanding of these diseases and expedite a diagnosis in other families. Patient Support Groups not only help normalise the disease but also educate patients, and update them on recent advances and new treatments. Some registries encourage patients to themselves submit their genetic variants, clinical features and response to treatment. More and more often, patients may volunteer for clinical trials of novel therapies including some that depend on a genetic diagnosis or variant type.<\/jats:p>","DOI":"10.3389\/fmed.2023.1201712","type":"journal-article","created":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T05:23:05Z","timestamp":1685942585000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["What patients want to know about genetic testing for kidney disease"],"prefix":"10.3389","volume":"10","author":[{"given":"Judy","family":"Savige","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Andr\u00e9","family":"Weinstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"2273","DOI":"10.1681\/ASN.2020071065","article-title":"Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome","volume":"32","author":"Gibson","year":"2021","journal-title":"J Am Soc Nephrol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1933","DOI":"10.1016\/j.ekir.2022.06.001","article-title":"Heterozygous pathogenic COL4A3 and COL4A4 variants (autosomal dominant Alport syndrome) are common, and not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities","volume":"7","author":"Savige","year":"2022","journal-title":"Kidney Int Rep"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"2593","DOI":"10.1681\/ASN.2018050493","article-title":"Prevalence estimates of polycystic kidney and liver disease by population sequencing","volume":"29","author":"Lanktree","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"143","DOI":"10.2215\/CJN.04230321","article-title":"Guidelines for genetic testing and Management of Alport Syndrome","volume":"17","author":"Savige","year":"2022","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1681\/ASN.2012020148","article-title":"Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy","volume":"24","author":"Savige","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"e0161802","DOI":"10.1371\/journal.pone.0161802","article-title":"X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations","volume":"11","author":"Savige","year":"2016","journal-title":"PLoS One"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/ki.2011.452","article-title":"Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations","volume":"81","author":"Temme","year":"2012","journal-title":"Kidney Int"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1016\/j.kint.2019.12.015","article-title":"A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport\u2019s syndrome","volume":"97","author":"Gross","year":"2020","journal-title":"Kidney Int"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1038\/ki.2011.407","article-title":"Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy","volume":"81","author":"Gross","year":"2012","journal-title":"Kidney Int"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.kint.2018.02.027","article-title":"A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases","volume":"94","author":"Bullich","year":"2018","journal-title":"Kidney Int"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"18097","DOI":"10.1038\/s41598-021-97414-0","article-title":"mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing","volume":"11","author":"Wang","year":"2021","journal-title":"Sci Rep"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/s41436-020-00963-4","article-title":"Clinical impact of genomic testing in patients with suspected monogenic kidney disease","volume":"23","author":"Jayasinghe","year":"2021","journal-title":"Genet Med"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"2850","DOI":"10.1016\/j.ekir.2021.08.028","article-title":"Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases","volume":"6","author":"Jayasinghe","year":"2021","journal-title":"Kidney Int Rep"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"2546","DOI":"10.1016\/j.ekir.2022.08.016","article-title":"Prescribing SGLT2 inhibitors in patients with CKD: expanding indications and practical considerations","volume":"7","author":"Yau","year":"2022","journal-title":"Kidney Int Rep"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"100814","DOI":"10.1016\/j.gim.2023.100814","article-title":"The effect of genetic education on the referral of patients to genetic evaluation: findings from a national survey of nephrologists","volume":"25","author":"Rasouly","year":"2023","journal-title":"Genet Med"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"100342","DOI":"10.1016\/j.gim.2022.11.010","article-title":"The designated record set for clinical genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Tayeh","year":"2023","journal-title":"Genet Med"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/jgc4.1511","article-title":"Do research participants share genomic screening results with family members?","volume":"31","author":"Wynn","year":"2022","journal-title":"J Genet Couns"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2023.1201712\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T05:23:07Z","timestamp":1685942587000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2023.1201712\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,5]]},"references-count":18,"alternative-id":["10.3389\/fmed.2023.1201712"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2023.1201712","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,5]]},"article-number":"1201712"}}