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Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a...

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Autores principales: Peltekova, Iskra, Buhas, Daniela, Stern, Lara, Kirby, Emily, Yusuf, Afiqah, Elsabbagh, Mayada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8400173/
https://www.ncbi.nlm.nih.gov/pubmed/34442399
http://dx.doi.org/10.3390/jpm11080755
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author Peltekova, Iskra
Buhas, Daniela
Stern, Lara
Kirby, Emily
Yusuf, Afiqah
Elsabbagh, Mayada
author_facet Peltekova, Iskra
Buhas, Daniela
Stern, Lara
Kirby, Emily
Yusuf, Afiqah
Elsabbagh, Mayada
author_sort Peltekova, Iskra
collection PubMed
description The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.
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spelling pubmed-84001732021-08-29 Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series Peltekova, Iskra Buhas, Daniela Stern, Lara Kirby, Emily Yusuf, Afiqah Elsabbagh, Mayada J Pers Med Article The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD. MDPI 2021-07-30 /pmc/articles/PMC8400173/ /pubmed/34442399 http://dx.doi.org/10.3390/jpm11080755 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Peltekova, Iskra
Buhas, Daniela
Stern, Lara
Kirby, Emily
Yusuf, Afiqah
Elsabbagh, Mayada
Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title_full Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title_fullStr Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title_full_unstemmed Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title_short Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
title_sort enhancing the impact of genomics research in autism through integration of research results into routine care pathways—a case series
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8400173/
https://www.ncbi.nlm.nih.gov/pubmed/34442399
http://dx.doi.org/10.3390/jpm11080755
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