Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Putting science over supposition in the arena of personalized genomics

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.


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.

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. Baird, P.A. Perspect. Biol. Med. 45, 516–528 (2002).

    Article  PubMed  Google Scholar 

  2. Katsanis, S.H., Javitt, G. & Hudson, K. Science 320, 53–54 (2008).

    Article  CAS  PubMed  Google Scholar 

  3. Haga, S.B., Khoury, M.J. & Burke, W. Nat. Genet. 34, 347–350 (2003).

    Article  CAS  PubMed  Google Scholar 

  4. Hunter, D.J., Khoury, M.J. & Drazen, J.M. N. Engl. J. Med. 358, 105–107 (2008).

    Article  CAS  PubMed  Google Scholar 

  5. Lunshof, J.E., Pirmohamed, M. & Gurwitz, D. Pharmacogenomics 7, 237–241 (2006).

    Article  PubMed  Google Scholar 

  6. Roberts, L. Science 291, 1182–1188 (2001).

    Article  CAS  PubMed  Google Scholar 

  7. Cooke-Deegan, R. Gene Wars: Science, Politics and the Human Genome. (W.W. Norton & Company, New York, 1994).

    Google Scholar 

  8. Khoury, M.J. et al. Genet. Med. 9, 665–674 (2007).

    Article  PubMed  Google Scholar 

  9. Baker, M. Nature 451, 516–517 (2008).

    Article  CAS  PubMed  Google Scholar 

  10. Scheuner, M.T., Sieverding, P. & Shekelle, P.G. J. Am. Med. Assoc. 299, 1320–1334 (2008).

    Article  CAS  Google Scholar 

  11. McClure, J.B. Am. J. Prev. Med. 22, 200–207 (2002).

    Article  PubMed  Google Scholar 

  12. Ory, M.G., Jordan, P.J. & Bazzarre, T. Health Educ. Res. 17, 500–511 (2002).

    Article  CAS  PubMed  Google Scholar 

  13. Zerhouni, E. Science 302, 63–72 (2003).

    Article  CAS  PubMed  Google Scholar 

  14. Hammond, D. et al. Am. J. Prev. Med. 32, 202–209 (2007).

    Article  PubMed  PubMed Central  Google Scholar 

  15. Thrasher, J.F. et al. Addict. Behav. 32, 2916–2925 (2007).

    Article  PubMed  Google Scholar 

  16. Satia, J.A., Galanko, J.A. & Neuhouser, M.L. J. Am. Diet. Assoc. 105, 392–402 (2005).

    Article  PubMed  Google Scholar 

  17. Institute of Medicine. Health Literacy (National Academies Press, Washington, DC, 2004).

  18. Campbell, M. et al. Br. Med. J. 321, 694–696 (2000).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding authors

Correspondence to Colleen M McBride or Lawrence C Brody.

Rights and permissions

Reprints 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).

Download citation

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing