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Tools for communicating risk for Parkinson’s disease

We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both pati...

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Autores principales: Cook, Lola, Schulze, Jeanine, Uhlmann, Wendy R., Verbrugge, Jennifer, Marder, Karen, Lee, Annie J., Wang, Yuanjia, Alcalay, Roy N., Nance, Martha, Beck, James C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709050/
https://www.ncbi.nlm.nih.gov/pubmed/36446806
http://dx.doi.org/10.1038/s41531-022-00432-6
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author Cook, Lola
Schulze, Jeanine
Uhlmann, Wendy R.
Verbrugge, Jennifer
Marder, Karen
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Nance, Martha
Beck, James C.
author_facet Cook, Lola
Schulze, Jeanine
Uhlmann, Wendy R.
Verbrugge, Jennifer
Marder, Karen
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Nance, Martha
Beck, James C.
author_sort Cook, Lola
collection PubMed
description We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both patient and consumer interest and emerging clinical trials targeting genetic forms of the disease. Attention has turned to prodromal forms of neurodegenerative diseases, including PD, resulting in assessments of individuals at risk, with genetic testing often included in the evaluation. These trends suggest that neurologists, clinical geneticists, genetic counselors, and other clinicians across primary care and various specialties should be prepared to answer questions about PD genetic risks and test results. The aim of this article is to provide genetic information for professionals to use in their communication to patients and families who have experienced PD. This includes up-to-date information on PD genes, variants, inheritance patterns, and chances of disease to be used for risk counseling, as well as insurance considerations and ethical issues.
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spelling pubmed-97090502022-12-01 Tools for communicating risk for Parkinson’s disease Cook, Lola Schulze, Jeanine Uhlmann, Wendy R. Verbrugge, Jennifer Marder, Karen Lee, Annie J. Wang, Yuanjia Alcalay, Roy N. Nance, Martha Beck, James C. NPJ Parkinsons Dis Comment We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both patient and consumer interest and emerging clinical trials targeting genetic forms of the disease. Attention has turned to prodromal forms of neurodegenerative diseases, including PD, resulting in assessments of individuals at risk, with genetic testing often included in the evaluation. These trends suggest that neurologists, clinical geneticists, genetic counselors, and other clinicians across primary care and various specialties should be prepared to answer questions about PD genetic risks and test results. The aim of this article is to provide genetic information for professionals to use in their communication to patients and families who have experienced PD. This includes up-to-date information on PD genes, variants, inheritance patterns, and chances of disease to be used for risk counseling, as well as insurance considerations and ethical issues. Nature Publishing Group UK 2022-11-29 /pmc/articles/PMC9709050/ /pubmed/36446806 http://dx.doi.org/10.1038/s41531-022-00432-6 Text en © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Comment
Cook, Lola
Schulze, Jeanine
Uhlmann, Wendy R.
Verbrugge, Jennifer
Marder, Karen
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Nance, Martha
Beck, James C.
Tools for communicating risk for Parkinson’s disease
title Tools for communicating risk for Parkinson’s disease
title_full Tools for communicating risk for Parkinson’s disease
title_fullStr Tools for communicating risk for Parkinson’s disease
title_full_unstemmed Tools for communicating risk for Parkinson’s disease
title_short Tools for communicating risk for Parkinson’s disease
title_sort tools for communicating risk for parkinson’s disease
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709050/
https://www.ncbi.nlm.nih.gov/pubmed/36446806
http://dx.doi.org/10.1038/s41531-022-00432-6
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