Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
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- 28 October 2011
- journal article
- invited comment
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 155 (12), 2916-2924
- https://doi.org/10.1002/ajmg.a.34357
Abstract
Exome sequencing (ES) and whole genome sequencing (WGS) putatively identify all adverse functional alleles of protein‐coding genes. Accordingly, while ES/WGS are transformative new tools for gene discovery in human and medical genetics research, they also generate new manifestations of ethical issues related to the consent process, data sharing, and return of results. These manifestations have yet to be comprehensively framed, due in part to the rapidity with which new technologies for ES/WGS are being applied and because of a lack of empirical data to provide guidance. Accordingly, researchers, funding agencies, and policy makers have largely dealt with these issues intuitively. We explain how use of ES/WGS challenges: (i) models under which informed consent is typically obtained; (ii) how harms associated with data sharing are considered; and (iii) the nature of obligations surrounding unanticipated findings. We provide broad guidance about interim ways to contend with these issues and make broad recommendations for areas for novel resource and policy development.Keywords
This publication has 38 references indexed in Scilit:
- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner SyndromeAmerican Journal of Human Genetics, 2010
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNature Genetics, 2010
- Clinical assessment incorporating a personal genomeThe Lancet, 2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyThe New England Journal of Medicine, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- The diploid genome sequence of an Asian individualNature, 2008
- The complete genome of an individual by massively parallel DNA sequencingNature, 2008
- Research ethics and the challenge of whole-genome sequencingNature Reviews Genetics, 2008
- The NCBI dbGaP database of genotypes and phenotypesNature Genetics, 2007
- Reporting genetic results in research studies: Summary and recommendations of an NHLBI working groupAmerican Journal of Medical Genetics Part A, 2006