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.

  • Patents
  • Published:

Legal uncertainty in the area of genetic diagnostic testing

A patent landscape analysis of 22 common genetic diagnostic tests shows substantially fewer claims on genes per se than initially suggested but raises questions of legal uncertainty as to the claims' scope.

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

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Claim typology and impact.
Figure 2: Legal status and relative number of patent documents within the genetic diagnostic patent landscape.
Figure 3: Legal status and relative number of patent documents for the top 22 diseases.
Figure 4: Patent applicants according to their nationality, type of ownership (profit or nonprofit) and number of patent families (as shown by the area of the slices).


  1. Gold, R.E. & Carbone, J. Myriad Genetics: In the Eye of the Policy Storm. A Case Study for The International Expert Group On Biotechnology, Innovation And Intellectual Property (The Innovation Partnership, Montreal, Canada, 2008).

  2. Barton, J.H. Nat. Biotechnol. 24, 939–941 (2006).

    Article  CAS  Google Scholar 

  3. Gaisser, S., Hopkins, M.M., Liddell, K., Zika, E. & Ibaretta, D. Nature 458, 407–408 (2009).

    Article  CAS  Google Scholar 

  4. van Overwalle, G., van Zimmeren, E., Verbeure, B. & Matthijs, G. Nat. Rev. Genet. 7, 143–148 (2006).

    Article  CAS  Google Scholar 

  5. Hopkins, M.M., Mahdi, S., Patel, P. & Thomas, S.T. Nat. Biotechnol. 25, 185–187 (2007).

    Article  CAS  Google Scholar 

  6. Jensen, K. & Murray, F. Science 310, 239–240 (2005).

    Article  CAS  Google Scholar 

  7. Verbeure, B. & Matthijs, G. & Van Overwalle, G. Eur. J. Hum. Genet. 14, 26–33 (2006).

    Article  CAS  Google Scholar 

  8. Walsh, J.P., Cho, C. & Cohen, W.M. Science 309, 2002–2003 (2005).

    Article  CAS  Google Scholar 

  9. Holman, C.M. UMKC Law Rev. 76, 295 (2007).

    Google Scholar 

  10. Caulfield, T., Cook-Deegan, R.M., Scott Kieff, F. & Walsh, J.P. Nat. Biotechnol. 24, 1091–1094 (2006).

    Article  CAS  Google Scholar 

  11. Gold, R.E. et al. Towards a New Era of Intellectual Property: From Confrontation to Negotiation (The Innovation Partnership and McGill Centre for Intellectual Property Policy, Monteal, 2008).

    Google Scholar 

  12. Holman, C.M. Science 322, 198–199 (2008).

    Article  CAS  Google Scholar 

  13. Stott, M. & Valentine, J. Nat. Biotechnol. 21, 729–731 (2003).

    Article  CAS  Google Scholar 

  14. Cho, M.K., Illangasekare, S., Weaver, M.A., Leonard, D.G. & Merz, J.F. J. Mol. Diagn. 5, 3–8 (2003).

    Article  Google Scholar 

  15. Verbeure, B., Matthijs, G. & van Overwalle, G. Eur. J. Hum. Genet. 14, 26–33 (2006).

    Article  CAS  Google Scholar 

  16. Aymé, S. Eur. J. Hum. Genet. 16, 405–411 (2008).

    Article  Google Scholar 

  17. Markman v. Westview Instruments, Inc., 52 F. 3d 967 (Fed. Cir. 1995)

  18. van Zimmeren, E., Vanneste, S. & Van Overwalle, G. Patent Licensing in Medical Biotechnology in Europe, Leuven (2009).

    Google Scholar 

  19. Matthijs, G. Fam. Cancer 5, 95–102 (2006).

    Article  Google Scholar 

  20. Technical Board of Appeal maintains two Myriad/breast cancer patents in limited form, website EPO (news), 19 November 2008.

  21. Epoline (

  22. Myriad Genetics and Oncormed, filed Dec. 2, 1997, D.C. Utah, Doc. No. 2:97cv922B.

  23. Myriad Genetics, Inc. and the University of Pennsylvania, filed Nov. 19, 1998, D.C. Utah, Doc. No. 2:98cv829.

  24. Holman, C.M. Science 322, 198–199 (2008).

    Article  CAS  Google Scholar 

  25. Diamond v. Chakrabarty, 447 US 303 (1980).

  26. US Utility Patent Examination Guidelines.

  27. Prometheus Labs v. Mayo Collaborative, 2008 WL 878910 (S.D. Cal. March 28, 2008).

  28. Simmons, W.J. Nat. Biotechnol. 27, 245–248 (2009).

    Article  CAS  Google Scholar 

  29. Patent reform urged at AIPPI. Managing IP 17 (October 2008)

  30. Amgen v. Chugai Pharmaceutical Co., (927 F.2d 1200 (Fed. Cir. 1991)).

  31. Howard Florey v. Relaxin, EPOR 541 (opposition division) (1995).

  32. Directive 98/44/EC of 6 July 1998 of the European Parliament and of the Council on the legal protection of biotechnological inventions. Official Journal EPO L213/13–L213/21 (30 July 1998).

  33. G1/04 - Diagnostic methods, 16 December 2005, Official Journal EPO, 334 (2006).

  34. Laboratory Corporation of America Holdings v. Metabolite Laboratories, Inc., June 22, 370 F.3d 1354 (2006).

  35. van Overwalle, G. Gene Patents and Public Health, Setting the Scene (Bruylant, Belgium, 2007).

    Google Scholar 

  36. OECD. OECD Guidelines for Licensing of Genetic Inventions (OECD, Paris, 2006).

Download references


This research was supported by grant number G.O120.04 of the Fund for Scientific Research (FWO, Belgium) and EuroGentest, an EU-FP6 supported Network of Excellence contract number 512148 and the Vancraesbeeck Fund (K.U.Leuven, Belgium). Special thanks go L.-A. Johnson, I. De Baere, E. van Zimmeren and B. Verbeure for interesting discussions and helpful comments on the manuscript.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Gert Matthijs.

Ethics declarations

Competing interests

The content of this paper is informational only and should not be substituted for legal advice.

Supplementary information

Supplementary Text and Figures

Supplementary Discussion and Supplementary Table 1 (PDF 121 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Huys, I., Berthels, N., Matthijs, G. et al. Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol 27, 903–909 (2009).

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