Clinical genome and exome sequencing (WGS and WES): return of incidental results – when, how and why? Authors Gemma Marfany Nadal Universitat de Barcelona. Keywords: incidental findings in genetic diagnosis, whole genome sequencing, whole exome sequencing, WGS, WES. Abstract In recent years, the costs in budget and time required for massive whole genome and exome sequencing (WGS and WES) have dropped to unprecedented levels, making single genome analysis feasible. Currently, public and private clinicians (for instance, in oncology) can address the exhaustive genetic diagnosis of a single patient. Nonetheless, while identifying the pathogenic mutations responsible for a particular genetic disorder, incidental results on genetic variants relevant to health (e.g. risk or susceptibility variants associated with colon or breast cancer, Alzheimer’s disease or autoimmune disorders) may also be revealed. What should we do with these unsolicited incidental results? What considerations should be weighed or under what circumstances should we consider them? What are the bioethical premises that challenge personalized medicine?Keywords: incidental findings in genetic diagnosis, whole genome sequencing, whole exome sequencing, WGS, WES. Downloads Download data is not yet available. Downloads PDF (Català) Issue Vol. 67 (2016) Section Destacats de recerca License The intellectual property of the articles belongs to the respective authors. At the time of submitting the articles to Treballs de la Societat Catalana de Biologia, authors accept the following terms: — Authors assign to the SCB (a subsidiary of the Institut d’Estudis Catalans) the rights of reproduction, public communication (including communication through social networks) and distribution of the articles submitted for publication to Treballs de la Societat Catalana de Biologia, in any form and medium, including digital platforms. The Publications Committee reserves the right to accept or refuse submitted articles and the right to make any editorial changes it deems appropriate. If the suggested changes are accepted by authors, they should re-submit the article with such changes. — Authors answer to the SCB for the authorship and originality of submitted articles. In other words, authors assure that submitted articles do not contain fragments of works by other authors or fragments of their own previously published works; that the content of articles is original, and that the copyright of third parties is not infringed upon. Authors accept this responsibility and undertake to hold harmless the SCB for any loss or damage resulting from non-compliance with this obligation. Furthermore, they should include a statement in articles submitted to the journal regarding their responsibility for the content of the articles. — Authors are responsible for obtaining permission for the reproduction of all graphic material included in articles, and they should moreover ensure that images, videos, etc., have been created with the consent of the individuals appearing in them, and that material belonging to third parties is clearly identified and acknowledged as such within the text. Likewise, authors should provide the respective consents and authorisations to the SCB when submitting articles. — The SCB is exempt from any liability arising from the possible infringement of intellectual property rights by authors. In all cases, it undertakes to publish corrections, clarifications, retractions and apologies, if necessary. — Unless otherwise stated in the text or in the graphic material, the contents published in the journal are subject to an Attribution - NonCommercial - NoDerivs 3.0 Spain (by-nc-nd) license from Creative Commons, the full text of which may be consulted at https://creativecommons.org/licenses/by-nc-nd/3.0/es/deed.en. Therefore, the general public is authorised to reproduce, distribute and communicate articles as long as their authorship and publishing entity are acknowledged, and no commercial use is made of them nor derivative work produced from them. — The journal is not responsible for the ideas and opinions expressed by the authors of published articles.
