Trends in Genetics
Volume 26, Issue 5, May 2010, Pages 199-201
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Forum: Science & Society
Personal genome research : what should the participant be told?

https://doi.org/10.1016/j.tig.2009.12.007Get rights and content

Should the results of whole genome sequencing research be disclosed to participants, in particular when the results have uncertain or indeterminate phenotypic consequences? This controversial question is considered in light of one author's (J.L.) experience as a geneticist who recently had his own genome sequenced.

Section snippets

Current practice and policy

One of the most pressing ethical challenges associated with whole genome sequencing (WGS) research is what to communicate to study participants? Scientists can now generate whole genome sequence data at relatively low cost (∼5000$) Ref. [1], but the analysis and interpretation of these data have proved more challenging than some might have anticipated. WGS will certainly reveal genetic variants with known clinical significance, however, most genetic variants discovered during the course of

Ethical, practical and scientific considerations

Ethical considerations invoked to support broad disclosure of genetic research findings include (i) individuals have a right to receive information about themselves, (ii) communicating genetic findings can benefit participants either because the information leads to positive health outcomes or because it provides them with some personal meaning, (iii) disclosure will increase trust in researchers and the research enterprise, ultimately leading to greater participation, (iv) subjects voluntarily

Concluding remarks

These scientific and evolving knowledge limitations and the ethical challenges they raise must be weighed against the moral arguments in favor of returning results and the potential good that might be obtained through new knowledge. At this early stage of WGS research there should not be a moral or legal obligation to return results of unproven significance. At the same time, access to that information should not be prohibited, as long as someone with the necessary expertise is available to

Acknowledgements

We thank Angela Hamaker for her editorial assistance. Funding provided by the Greenwall Foundation Faculty Scholars Program in Bioethics, the Ethical, Legal and Social Implications (ELSI) Research Program of National Human Genome Research Institute (NHGRI) (grant R01HG004853) and the National Institute of Neurological Disorders and Stroke (NINDS) (grant RO1NS058529).

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