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So rare we need to hunt for them: reframing the ethical debate on incidental findings

Incidental findings are the subject of intense ethical debate in medical genomic research. Every human genome contains a number of potentially disease-causing alterations that may be detected during comprehensive genetic analyses to investigate a specific condition. Yet available evidence shows that...

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Autores principales: Schuol, Sebastian, Schickhardt, Christoph, Wiemann, Stefan, Bartram, Claus R., Tanner, Klaus, Eils, Roland, Meder, Benjamin, Richter, Daniela, Glimm, Hanno, von Kalle, Christof, Winkler, Eva C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520017/
https://www.ncbi.nlm.nih.gov/pubmed/26229554
http://dx.doi.org/10.1186/s13073-015-0198-3
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author Schuol, Sebastian
Schickhardt, Christoph
Wiemann, Stefan
Bartram, Claus R.
Tanner, Klaus
Eils, Roland
Meder, Benjamin
Richter, Daniela
Glimm, Hanno
von Kalle, Christof
Winkler, Eva C.
author_facet Schuol, Sebastian
Schickhardt, Christoph
Wiemann, Stefan
Bartram, Claus R.
Tanner, Klaus
Eils, Roland
Meder, Benjamin
Richter, Daniela
Glimm, Hanno
von Kalle, Christof
Winkler, Eva C.
author_sort Schuol, Sebastian
collection PubMed
description Incidental findings are the subject of intense ethical debate in medical genomic research. Every human genome contains a number of potentially disease-causing alterations that may be detected during comprehensive genetic analyses to investigate a specific condition. Yet available evidence shows that the frequency of incidental findings in research is much lower than expected. In this Opinion, we argue that the reason for the low level of incidental findings is that the filtering techniques and methods that are applied during the routine handling of genomic data remove these alterations. As incidental findings are systematically filtered out, it is now time to evaluate whether the ethical debate is focused on the right issues. We conclude that the key question is whether to deliberately target and search for disease-causing variations outside the indication that has originally led to the genetic analysis, for instance by using positive lists and algorithms.
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spelling pubmed-45200172015-07-31 So rare we need to hunt for them: reframing the ethical debate on incidental findings Schuol, Sebastian Schickhardt, Christoph Wiemann, Stefan Bartram, Claus R. Tanner, Klaus Eils, Roland Meder, Benjamin Richter, Daniela Glimm, Hanno von Kalle, Christof Winkler, Eva C. Genome Med Opinion Incidental findings are the subject of intense ethical debate in medical genomic research. Every human genome contains a number of potentially disease-causing alterations that may be detected during comprehensive genetic analyses to investigate a specific condition. Yet available evidence shows that the frequency of incidental findings in research is much lower than expected. In this Opinion, we argue that the reason for the low level of incidental findings is that the filtering techniques and methods that are applied during the routine handling of genomic data remove these alterations. As incidental findings are systematically filtered out, it is now time to evaluate whether the ethical debate is focused on the right issues. We conclude that the key question is whether to deliberately target and search for disease-causing variations outside the indication that has originally led to the genetic analysis, for instance by using positive lists and algorithms. BioMed Central 2015-07-30 /pmc/articles/PMC4520017/ /pubmed/26229554 http://dx.doi.org/10.1186/s13073-015-0198-3 Text en © Schuol et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Opinion
Schuol, Sebastian
Schickhardt, Christoph
Wiemann, Stefan
Bartram, Claus R.
Tanner, Klaus
Eils, Roland
Meder, Benjamin
Richter, Daniela
Glimm, Hanno
von Kalle, Christof
Winkler, Eva C.
So rare we need to hunt for them: reframing the ethical debate on incidental findings
title So rare we need to hunt for them: reframing the ethical debate on incidental findings
title_full So rare we need to hunt for them: reframing the ethical debate on incidental findings
title_fullStr So rare we need to hunt for them: reframing the ethical debate on incidental findings
title_full_unstemmed So rare we need to hunt for them: reframing the ethical debate on incidental findings
title_short So rare we need to hunt for them: reframing the ethical debate on incidental findings
title_sort so rare we need to hunt for them: reframing the ethical debate on incidental findings
topic Opinion
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520017/
https://www.ncbi.nlm.nih.gov/pubmed/26229554
http://dx.doi.org/10.1186/s13073-015-0198-3
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