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Integrating clinical genetics in cardiology: Current practices and recommendations for education

PURPOSE: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote...

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Autores principales: Scherr, Courtney L., Kalke, Kerstin, Ramesh, Sanjana, Fakhari, Hoda, Dellefave-Castillo, Lisa M., Smith, Maureen E., Kalny, Callie, McNally, Elizabeth M., Rasmussen-Torvik, Laura J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991006/
https://www.ncbi.nlm.nih.gov/pubmed/35339388
http://dx.doi.org/10.1016/j.gim.2022.02.003
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author Scherr, Courtney L.
Kalke, Kerstin
Ramesh, Sanjana
Fakhari, Hoda
Dellefave-Castillo, Lisa M.
Smith, Maureen E.
Kalny, Callie
McNally, Elizabeth M.
Rasmussen-Torvik, Laura J.
author_facet Scherr, Courtney L.
Kalke, Kerstin
Ramesh, Sanjana
Fakhari, Hoda
Dellefave-Castillo, Lisa M.
Smith, Maureen E.
Kalny, Callie
McNally, Elizabeth M.
Rasmussen-Torvik, Laura J.
author_sort Scherr, Courtney L.
collection PubMed
description PURPOSE: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing. METHODS: Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts. RESULTS: Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts’ importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result. CONCLUSION: Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.
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spelling pubmed-99910062023-03-07 Integrating clinical genetics in cardiology: Current practices and recommendations for education Scherr, Courtney L. Kalke, Kerstin Ramesh, Sanjana Fakhari, Hoda Dellefave-Castillo, Lisa M. Smith, Maureen E. Kalny, Callie McNally, Elizabeth M. Rasmussen-Torvik, Laura J. Genet Med Article PURPOSE: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing. METHODS: Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts. RESULTS: Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts’ importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result. CONCLUSION: Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings. 2022-05 2022-03-24 /pmc/articles/PMC9991006/ /pubmed/35339388 http://dx.doi.org/10.1016/j.gim.2022.02.003 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Scherr, Courtney L.
Kalke, Kerstin
Ramesh, Sanjana
Fakhari, Hoda
Dellefave-Castillo, Lisa M.
Smith, Maureen E.
Kalny, Callie
McNally, Elizabeth M.
Rasmussen-Torvik, Laura J.
Integrating clinical genetics in cardiology: Current practices and recommendations for education
title Integrating clinical genetics in cardiology: Current practices and recommendations for education
title_full Integrating clinical genetics in cardiology: Current practices and recommendations for education
title_fullStr Integrating clinical genetics in cardiology: Current practices and recommendations for education
title_full_unstemmed Integrating clinical genetics in cardiology: Current practices and recommendations for education
title_short Integrating clinical genetics in cardiology: Current practices and recommendations for education
title_sort integrating clinical genetics in cardiology: current practices and recommendations for education
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991006/
https://www.ncbi.nlm.nih.gov/pubmed/35339388
http://dx.doi.org/10.1016/j.gim.2022.02.003
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