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What patients want to know about genetic testing for kidney disease

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 inher...

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Autores principales: Savige, Judy, Weinstock, B. André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277795/
https://www.ncbi.nlm.nih.gov/pubmed/37342499
http://dx.doi.org/10.3389/fmed.2023.1201712
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author Savige, Judy
Weinstock, B. André
author_facet Savige, Judy
Weinstock, B. André
author_sort Savige, Judy
collection PubMed
description 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 “certainty” 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’s 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.
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spelling pubmed-102777952023-06-20 What patients want to know about genetic testing for kidney disease Savige, Judy Weinstock, B. André Front Med (Lausanne) Medicine 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 “certainty” 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’s 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. Frontiers Media S.A. 2023-06-05 /pmc/articles/PMC10277795/ /pubmed/37342499 http://dx.doi.org/10.3389/fmed.2023.1201712 Text en Copyright © 2023 Savige and Weinstock. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Savige, Judy
Weinstock, B. André
What patients want to know about genetic testing for kidney disease
title What patients want to know about genetic testing for kidney disease
title_full What patients want to know about genetic testing for kidney disease
title_fullStr What patients want to know about genetic testing for kidney disease
title_full_unstemmed What patients want to know about genetic testing for kidney disease
title_short What patients want to know about genetic testing for kidney disease
title_sort what patients want to know about genetic testing for kidney disease
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277795/
https://www.ncbi.nlm.nih.gov/pubmed/37342499
http://dx.doi.org/10.3389/fmed.2023.1201712
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