Skip to main content

Thank you for visiting nature.com. 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.

Human genetics as a foundation for innovative drug development

New technology has transformed human genetics. It now provides perhaps the single best opportunity to innovate and improve clinical success rates in drug development.

Your institute does not have access to this article

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

Figure 1: Common versus rare genetic variants.

References

  1. Lewis, E.B. Nature 276, 565–570 (1978).

    CAS  Article  Google Scholar 

  2. Fishman, M.C. & Porter, J.A. Nature 437, 491–493 (2005).

    CAS  Article  Google Scholar 

  3. Paul, S.M. et al. Nat. Rev. Drug Discov. 9, 203–214 (2010).

    CAS  Article  Google Scholar 

  4. Laurie, S.A. & Goss, G.D. J. Clin. Oncol. 31, 1061–1069 (2013).

    CAS  Article  Google Scholar 

  5. Wellcome Trust Case Control Consortium. Nature 447, 661–678 (2007).

  6. Gudmundsson, J. et al. Sci. Transl. Med. 2, 62ra92 (2010).

    CAS  Article  Google Scholar 

  7. Kannel, W.B. & Castelli, W.P. Med. Times 100, 173–175 (1972).

    CAS  PubMed  Google Scholar 

  8. Gordon, T., Castelli, W.P., Hjortland, M.C., Kannel, W.B. & Dawber, T.R. Am. J. Med. 62, 707–714 (1977).

    CAS  Article  Google Scholar 

  9. The AIM-HIGH Investigators. N. Engl. J. Med. 365, 2255–2267 (2011).

  10. Barter, P.J. et al. N. Engl. J. Med. 357, 2109–2122 (2007).

    CAS  Article  Google Scholar 

  11. Schwartz, G.G. et al. N. Engl. J. Med. 367, 2089–2099 (2012).

    CAS  Article  Google Scholar 

  12. Voight, B.F. et al. Lancet 380, 572–580 (2012).

    CAS  Article  Google Scholar 

  13. Cohen, J. et al. Nat. Genet. 37, 161–165 (2005).

    CAS  Article  Google Scholar 

  14. Zhao, Z. et al. Am. J. Hum. Genet. 79, 514–523 (2006).

    CAS  Article  Google Scholar 

  15. Hooper, A.J., Marais, A.D., Tanyanyiwa, D.M. & Burnett, J.R. Atherosclerosis 193, 445–448 (2007).

    CAS  Article  Google Scholar 

  16. Lambert, G., Sjouke, B., Choque, B., Kastelein, J.J. & Hovingh, G.K. J. Lipid Res. 53, 2515–2524 (2012).

    CAS  Article  Google Scholar 

  17. Haddad, L. et al. J. Lipid Res. 40, 1113–1122 (1999).

    CAS  PubMed  Google Scholar 

  18. Abifadel, M. et al. Nat. Genet. 34, 154–156 (2003).

    CAS  Article  Google Scholar 

  19. Cohen, J.C., Boerwinkle, E., Mosley, T.H. Jr. & Hobbs, H.H. N. Engl. J. Med. 354, 1264–1272 (2006).

    CAS  Article  Google Scholar 

  20. Benn, M., Nordestgaard, B.G., Grande, P., Schnohr, P. & Tybjaerg-Hansen, A. J. Am. Coll. Cardiol. 55, 2833–2842 (2010).

    CAS  Article  Google Scholar 

  21. J. Am. Med. Assoc. 251, 351–364 (1984).

  22. J. Am. Med. Assoc. 251, 365–374 (1984).

  23. Stamler, J., Wentworth, D. & Neaton, J.D. J. Am. Med. Assoc. 256, 2823–2828 (1986).

    CAS  Article  Google Scholar 

  24. Pekkanen, J. et al. N. Engl. J. Med. 322, 1700–1707 (1990).

    CAS  Article  Google Scholar 

  25. Wong, N.D., Wilson, P.W. & Kannel, W.B. Ann. Intern. Med. 115, 687–693 (1991).

    CAS  Article  Google Scholar 

  26. Rossouw, J.E., Lewis, B. & Rifkind, B.M. N. Engl. J. Med. 323, 1112–1119 (1990).

    CAS  Article  Google Scholar 

  27. Wilson, P.W. et al. Circulation 97, 1837–1847 (1998).

    CAS  Article  Google Scholar 

  28. Lloyd-Jones, D.M., Larson, M.G., Beiser, A. & Levy, D. Lancet 353, 89–92 (1999).

    CAS  Article  Google Scholar 

  29. Grundy, S.M. et al. Circulation 110, 227–239 (2004).

    Article  Google Scholar 

  30. Kolodgie, F.D. et al. Heart 90, 1385–1391 (2004).

    CAS  Article  Google Scholar 

  31. LaRosa, J.C. et al. N. Engl. J. Med. 352, 1425–1435 (2005).

    CAS  Article  Google Scholar 

  32. Cannon, C.P., Steinberg, B.A., Murphy, S.A., Mega, J.L. & Braunwald, E. J. Am. Coll. Cardiol. 48, 438–445 (2006).

    CAS  Article  Google Scholar 

  33. Cholesterol Treatment Trialists', (CTT) Collaboration et al. Lancet 376, 1670–1681 (2010).

  34. Rashid, S. et al. Proc. Natl. Acad. Sci. USA 102, 5374–5379 (2005).

    CAS  Article  Google Scholar 

  35. Qian, Y.W. et al. J. Lipid Res. 48, 1488–1498 (2007).

    CAS  Article  Google Scholar 

  36. Goldstein, J.L. & Brown, M.S. Arterioscler. Thromb. Vasc. Biol. 29, 431–438 (2009).

    CAS  Article  Google Scholar 

  37. Horton, J.D., Cohen, J.C. & Hobbs, H.H. J. Lipid Res. 50 (suppl.), S172–S177 (2009).

    Article  Google Scholar 

  38. Steinberg, D. & Witztum, J.L. Proc. Natl. Acad. Sci. USA 106, 9546–9547 (2009).

    CAS  Article  Google Scholar 

  39. Dhankhar, A., Evers, M. & Moller, M. in McKinsey Perspectives on Drug and Device R&D, 2–11 (2012).

    Google Scholar 

  40. Holm, H. et al. Nat. Genet. 43, 316–320 (2011).

    CAS  Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Alexander Kamb.

Ethics declarations

Competing interests

Authors employed by Amgen and deCODE.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kamb, A., Harper, S. & Stefansson, K. Human genetics as a foundation for innovative drug development. Nat Biotechnol 31, 975–978 (2013). https://doi.org/10.1038/nbt.2732

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nbt.2732

Further reading

Search

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