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.

Biomarker patents for diagnostics: problem or solution?

Patents on genes and other types of biomarkers have caused much controversy, but their importance to diagnostic innovation is in danger of being overlooked.

This is a preview of subscription content, access via your institution

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. Nuffield Council on Bioethics. The ethics of patenting DNA (Nuffield Council on Bioethics, 2002).

  2. Secretary's Advisory Committee on Genetics, Health, and Society. Gene patents and licensing practices and their impact on patient access to genetic tests (US Department of Health and Human Services, Washington, DC, 2010).

  3. National Research Council. Cancer Biomarkers: The Promises and Challenges of Improving Detection and Treatment (eds. Nass, S.J. & Moses, H.L.) (National Academies Press, Washington, DC, 2007).

  4. Garrison, L.P. Jr. & Finley Austin, M.J. Health Aff. 25, 1281–1290 (2006).

    Article  Google Scholar 

  5. National Endowment for Science, Technology and the Arts. The Innovation Gap, 24–26 (NESTA, London, 2006).

  6. Cho, M.K. et al. J. Mol. Diagn. 5, 3–8 (2003).

    Article  Google Scholar 

  7. Carbone, J. et al. Nat. Biotechnol. 28, 784–791 (2010).

    Article  CAS  Google Scholar 

  8. Huys, I. et al. Nat. Biotechnol. 27, 903–909 (2009).

    Article  CAS  Google Scholar 

  9. Association for Molecular Pathology v. USPTO et al., 669 F. Supp. 2d 365 - Dist. Court, SD New York (2009).

  10. Stigilitz, J.E. BMJ 333, 1279–1280 (2006).

    Article  Google Scholar 

  11. Association for Molecular Pathology v. Myriad Genetics, et al. 11–725

  12. Decision of the Technical Board of Appeal 3.3.04, T 0080/05 (19 November 2008).

  13. Mayo Collaborative Services v. Prometheus Laboratories, Inc., 566 US ___ (2012).

  14. Human Genetics Commission. Intellectual property and DNA diagnostics (Department of Health, London, 2011).

  15. Gaisser, S. et al. Nature 458, 407–408 (2009).

    Article  CAS  Google Scholar 

  16. Huys, I., Van Overwalle, G. & Matthijs, G. Eur. J. Hum. Genet. 19, 1104–1107 (2011).

    Article  CAS  Google Scholar 

  17. The text of national legislation wherein these modifications can be found for France, Switzerland and Belgium can be found at the following sites, respectively: <;jsessionid=3011BE79C398F76D3F3C4286E5B42992.tpdjo10v_1?cidTexte=LEGITEXT000006069414&idArticle=LEGIARTI000006279493&dateTexte=20120402&categorieLien=id#LEGIARTI000006279493> <>

  18. Matthijs, G. Br. Med. J. 329, 1358–1360 (2004).

    Article  Google Scholar 

  19. Malik, N.N. Nat. Biotechnol. 29, 390–391 (2011).

    Article  CAS  Google Scholar 

  20. Baker, M. Nat. Biotechnol. 24, 931–938 (2006).

    Article  CAS  Google Scholar 

  21. Digene Corp. Annual Report (2003).

  22. Hogarth, S., Hopkins, M. & Rodriguez, V. Sociol. Health Illn. 34, 234–250 (2012).

    Article  Google Scholar 

  23. Hopkins. M.M. et al. Nat. Biotechnol. 24, 403–410 (2006).

    Article  CAS  Google Scholar 

  24. Liddell, K., Hogarth, S., Melzer, D. & Zimmern, R. Intellect. Property Q. 3, 286–327 (2008).

    Google Scholar 

  25. Cornish, W.R., Llewelyn, M. & Adcock, M. Intellectual property rights (IPRs) and genetics (Public Health Genetics Unit, Cambridge, 2003).

    Google Scholar 

  26. Organisation for Economic Co-operation and Development. Guidelines for the licensing of genetic inventions (OECD, 2006).

  27. Association of University Technology Managers. In the public interest: nine points to consider in licensing university technology (AUTM, 2007).

  28. Thompson, M. et al. BMJ 342, d2973 (2011).

    Article  Google Scholar 

Download references


This article was prepared following a workshop on behalf of the UK's Human Genetics Commission (HGC). The article draws primarily on discussions held at the workshop. The authors are grateful to the workshop participants, HGC and the anonymous reviewers. The views expressed are those of the authors'.

Author information

Authors and Affiliations


Corresponding authors

Correspondence to Michael M Hopkins or Stuart Hogarth.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Hopkins, M., Hogarth, S. Biomarker patents for diagnostics: problem or solution?. Nat Biotechnol 30, 498–500 (2012).

Download citation

  • Published:

  • 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