-
British medical bulletin · Sep 2014
ReviewManaging the ethical challenges of next-generation sequencing in genomic medicine.
- Angus J Clarke.
- Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XW, UK clarkeaj@wales.nhs.uk.
- Br. Med. Bull. 2014 Sep 1; 111 (1): 17-30.
IntroductionNext-generation sequencing (NGS) is transforming the conduct of genetic research and diagnostic investigation. This creates new challenges as it generates additional information, including unsought and unwanted information. Nevertheless, this information must be deliberately managed-interpreted, disclosed and then either stored or destroyed.Areas Of AgreementHandling the process of consent to exome or genome sequencing should include discussion about the possible detection of variants of uncertain significance (VUSs) or incidental findings (IFs) that the patient may prefer not to hear about. A plan should be drawn up that specifies whether and how the patient would be recontacted in the future with new interpretations.Areas Of ControversyThere is an active debate about which IFs or VUSs should be disclosed to the patient when an exome or genome sequence has been performed, or whether all findings of any possible relevance should always be disclosed. How this is managed has important implications for the initial explanation of the test to the patient and the process of consent. The assumption is often made that all sequence information should be stored, but this may not be sustainable or useful.Growing PointsEfforts are being made to build a consensus on what 'incidental' information should be disclosed. These policy questions are being addressed in many centres and practices are evolving rapidly.Areas Timely For Developing ResearchThose interested in genetics, public health, bioethics and medical ethics may wish to debate these issues and influence future practice in both genetic research and genetic diagnostic services.© The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*
,_underline_
or**bold**
. - Superscript can be denoted by
<sup>text</sup>
and subscript<sub>text</sub>
. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3.
, hyphens-
or asterisks*
. - Links can be included with:
[my link to pubmed](http://pubmed.com)
- Images can be included with:
![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
- For footnotes use
[^1](This is a footnote.)
inline. - Or use an inline reference
[^1]
to refer to a longer footnote elseweher in the document[^1]: This is a long footnote.
.