Colleen McBride and colleagues argue that progress on a multifaceted research agenda is necessary to reap the full benefits and avoid the potential pitfalls of the emerging area of personalized genomics. They also outline one element of this agenda, the Multiplex Initiative, which has been underway since 2006.
Abstract
We explore the process of going from genome discovery to evaluation of medical impact and discuss emerging challenges faced by the scientific community. The need to confront these challenges is heightened in a climate where unregulated genetic tests are being marketed directly to the general public1,2. Specifically, we characterize the delicate balance involved in deciding when genomic discoveries such as gene-disease associations are 'ready' to be evaluated as potential tools to improve health. We recommend that a considerable research commitment be made now in order to successfully bridge the rapidly widening gap between gene-disease association research and the critical (but slower and more involved) investigations into public health and clinical utility. Lastly, we describe a large, ongoing, early-phase research project, the Multiplex Initiative, which is examining issues related to the utility of genetic susceptibility testing for common health conditions.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Colorado stride (COSTRIDE): testing genetic and physiological moderators of response to an intervention to increase physical activity
International Journal of Behavioral Nutrition and Physical Activity Open Access 21 December 2013
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Baird, P.A. Perspect. Biol. Med. 45, 516–528 (2002).
Katsanis, S.H., Javitt, G. & Hudson, K. Science 320, 53–54 (2008).
Haga, S.B., Khoury, M.J. & Burke, W. Nat. Genet. 34, 347–350 (2003).
Hunter, D.J., Khoury, M.J. & Drazen, J.M. N. Engl. J. Med. 358, 105–107 (2008).
Lunshof, J.E., Pirmohamed, M. & Gurwitz, D. Pharmacogenomics 7, 237–241 (2006).
Roberts, L. Science 291, 1182–1188 (2001).
Cooke-Deegan, R. Gene Wars: Science, Politics and the Human Genome. (W.W. Norton & Company, New York, 1994).
Khoury, M.J. et al. Genet. Med. 9, 665–674 (2007).
Baker, M. Nature 451, 516–517 (2008).
Scheuner, M.T., Sieverding, P. & Shekelle, P.G. J. Am. Med. Assoc. 299, 1320–1334 (2008).
McClure, J.B. Am. J. Prev. Med. 22, 200–207 (2002).
Ory, M.G., Jordan, P.J. & Bazzarre, T. Health Educ. Res. 17, 500–511 (2002).
Zerhouni, E. Science 302, 63–72 (2003).
Hammond, D. et al. Am. J. Prev. Med. 32, 202–209 (2007).
Thrasher, J.F. et al. Addict. Behav. 32, 2916–2925 (2007).
Satia, J.A., Galanko, J.A. & Neuhouser, M.L. J. Am. Diet. Assoc. 105, 392–402 (2005).
Institute of Medicine. Health Literacy (National Academies Press, Washington, DC, 2004).
Campbell, M. et al. Br. Med. J. 321, 694–696 (2000).
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
McBride, C., Alford, S., Reid, R. et al. Putting science over supposition in the arena of personalized genomics. Nat Genet 40, 939–942 (2008). https://doi.org/10.1038/ng0808-939
Issue Date:
DOI: https://doi.org/10.1038/ng0808-939
This article is cited by
-
Genomics in research and health care with Aboriginal and Torres Strait Islander peoples
Monash Bioethics Review (2015)
-
Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems
Clinical Pharmacology & Therapeutics (2014)
-
Colorado stride (COSTRIDE): testing genetic and physiological moderators of response to an intervention to increase physical activity
International Journal of Behavioral Nutrition and Physical Activity (2013)
-
Translational genomic research: protocol development and initial outcomes following SNP testing for colon cancer risk
Translational Behavioral Medicine (2013)
-
Ethische und medizintheoretische Anmerkungen zu Wunsch und Wirklichkeit der individualisierten Medizin
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz (2013)