Patents in genomics and human genetics

Abstract

Genomics and human genetics are scientifically fundamental and commercially valuable. These fields grew to prominence in an era of growth in government and nonprofit research funding, and of even greater growth of privately funded research and development in biotechnology and pharmaceuticals. Patents on DNA technologies are a central feature of this story, illustrating how patent law adapts-and sometimes fails to adapt-to emerging genomic technologies. In instrumentation and for therapeutic proteins, patents have largely played their traditional role of inducing investment in engineering and product development, including expensive post-discovery clinical research to prove safety and efficacy. Patents on methods and DNA sequences relevant to clinical genetic testing show less evidence of benefits and more evidence of problems and impediments, largely attributable to university exclusive licensing practices. Whole-genome sequencing will confront uncertainty about infringing granted patents, but jurisprudence trends away from upholding the broadest and potentially most troublesome patent claims.

Figure 1

U.S. Patents: DNA Patents and Patent Applications by Year, 1984--2008. The DNA Patent Database contains patents obtained by searching the Delphion Patent Database (http://www.delphion.com) with an algorithm posted on the DNA Patent Database website that searches for granted U.S. patents (since 1971) and published applications (since 2001) in U.S. patent classes related to genetics and genomics as well as claims that include words specific to nucleic acids, genetics, and genomics. The year 1984 is the first for which more than 100 granted patents are in the DNA Patent Database. Data from Reference .

Figure 2

Families of Granted Patents in the United States, Europe, and Japan. The figure shows differences among patent offices in families of DNA-sequence-based patents. A patent family is the collection of patent applications and the granted patents arising from a single invention, usually stemming from the same original application. Hopkins et al. (111) “used Thomson Scientific’s GENESEQ and World Patent Index databases to identify patent families claiming human DNA and/or other nucleic acid sequences that were published from 1980--2003. Other data (e.g., legal status of granted patents) were obtained from the U.S. Patent and Trademark Office and the European Patent Office online databases” (, p. 185). Data from Reference (112) used with permission of the authors.

Figure 3

Top U.S. DNA patent holders. The authors compiled a list of assignees with at least 100 patents, combined different names for the same assignee, and updated names to reflect corporate mergers and acquisitions. Patent counts are from the Delphion Patent Database for U.S. patents granted as of October 26, 2009, using the DNA Patent Database algorithm (64). Data from Reference .

Figure 4

Newspaper stories and policy report references to genetic conditions, genes, and related controversies. References to gene patents in English language newspapers and policy reports, according to gene or to company. Caulfield and colleagues (38) searched English language media in Australia, Canada, the United Kingdom, and the United States for the period 1994--2006 for stories about gene patents. (a) The number of newspaper articles that mentioned specific conditions, genes, or controversies was counted. (b) In another article, Caulfield and colleagues (39) searched for explicit references to specific gene patents and firms in English language policy reports that addressed gene patenting from 2002--2006. Shown are the number of times specific patents and firms were mentioned in those reports (excluding irrelevant or synonymous uses of terms). The number of references in policy reports to Myriad Genetics and BRCA1/2 are combined here but were reported separately in the two Caulfield et al. publications (38, 39); references in policy reports to various muscular dystrophies were also reported separately but combined here. Data from References and used with permission.

Figure 4

Newspaper stories and policy report references to genetic conditions, genes, and related controversies. References to gene patents in English language newspapers and policy reports, according to gene or to company. Caulfield and colleagues (38) searched English language media in Australia, Canada, the United Kingdom, and the United States for the period 1994--2006 for stories about gene patents. (a) The number of newspaper articles that mentioned specific conditions, genes, or controversies was counted. (b) In another article, Caulfield and colleagues (39) searched for explicit references to specific gene patents and firms in English language policy reports that addressed gene patenting from 2002--2006. Shown are the number of times specific patents and firms were mentioned in those reports (excluding irrelevant or synonymous uses of terms). The number of references in policy reports to Myriad Genetics and BRCA1/2 are combined here but were reported separately in the two Caulfield et al. publications (38, 39); references in policy reports to various muscular dystrophies were also reported separately but combined here. Data from References and used with permission.

Figure 5

Instances and outcomes of human gene patent litigation. Christopher Holman searched Lexis-Nexis (http://www.lexis.com) databases and federal court cases for litigated patents that included either the term SEQ ID NO. in the claims or terms used in the DNA Patent Database query in the claims or abstract. He also searched the Westlaw Intellectual Property Docket (http://www.westlaw.com) for litigation involving patents in Jensen & Murray’s patents database (J&M Patents) that included terms from the DNA Patent Database in the abstract. The number of patents identified in J&M Patents is indicated in parentheses (120). Data through April 2007 is from Reference (109) and used with the authors’ permission. Holman’s data do not include the pending case concerning BRCA sequences and testing methods (20, 21A).