Upstream research in genomics is increasingly an information science: de novo DNA synthesis from an information specification (i.e., the DNA sequence) is becoming cheaper at a rate even faster than Moore's law might predict. Multi-gene and multi-allele diagnostics assemble together many different informational components and thus resemble the types of complex products produced by the information technology ("IT") industries. As genomics research grows increasingly information-based, it risks facing some of the peculiar intellectual property problems that have plagued the IT field. However, if lessons from IT's experience can be applied to genomics, this could prevent emerging genomics research from unnecessarily encountering the same hurdles, and allow it to better reap the benefits of new processes and technologies. Project 1 will be dedicated to addressing the unique and important intellectual property challenges posed by genomics as information, and applying lessons learned from IT's distinctive struggles in this area. Over the last 10 years, the IT industries have complained vigorously about problems with the low "quality" of IT patents. Specifically, they argue that IT patents are often overly broad - covering "obvious" technology widely used in the industry or claiming territory that the researcher has not actually invented -.- and that patents have vague boundaries that fail to tell researchers when they are impinging on other patents. In addition, IT industries have been concerned that because their complex products implicate hundreds if not thousands of patents, patent "thickets" may impede their ability to develop such products. The quality-related issue that may be most salient for bench researchers is the complaint that IT patients regularly evade patent law's "disclosure" requirement. In order to receive a patent, patent holders are required to describe their invention in sufficient detail to allow others in the field to understand and improve upon (or invent around) what the patent holder claims. The disclosure "bargain" promotes progress by allowing the underlying information to be available to the public even during the life of the patent In the IT field, there is increasing evidence that patent holders do not describe technology adequately for researchers to have access to this underlying information. As genomics becomes more like IT, a similar problem could stall the progress of genomic research. In fact, the effects of low quality patents could be more pronounced in genomics than in IT. When patents were extended to IT products, IT was already a robust industry, so the patents did not extend to foundational technologies. In nascent areas of genomic research, however, there is a risk that patents could cover foundational technologies and basic information inputs, further slowing growth and innovation. Project 1 will use empirical and theoretical modeling techniques to determine the extent to which the kinds of problems associated with patents on information in the IT industries are likely to emerge in genomics. It will focus particularly on those technologies and applications where a primary output of genomics research is information that may be subject to intellectual property rights. The original empirical research for the project will focus on questions of patent quality (thus addressing whether low quality patents are proliferating). At the same time, it will be drawing on related empirical research on possible patent thickets in multi-gene/multi-allele diagnostics and full-genome DNA sequencing (Project 3), while other portions of it are being pursued by Dr. Chandrasekharan under a recently funded ROS grant. Project 1 will also explore the effect that some recent administrative and judicial efforts to address perceived problems with patents in IT are likely to have on the validity and enforceability of genomic patents that claim information, most notably DNA sequences (e.g., "a nucleic acid sequence encoding a protein with amino acid sequence SEQ ID XXX"). Finally, Project 1 will turn from patent law to another area of intellectual property, by examining hurdles that copyright law and publishing practices pose to the full scientific exploitation of genomics as information. For example, copyright law and publishing practices make it difficult to get full text access, which is necessary in order to use sophisticated algorithms to explore publications, and to integrate those publications with the wealth of other genomic data and studies being produced. The question being pursued here is, if genomics is rapidly becoming a pure information science, to what extent can we learn from the successes of the World Wide Web to create a science system that seamlessly merges published research with the underlying genomic data on which that research relies?

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center (P50)
Project #
5P50HG003391-08
Application #
8450001
Study Section
Special Emphasis Panel (ZHG1-HGR-P)
Project Start
Project End
Budget Start
2013-04-01
Budget End
2014-03-31
Support Year
8
Fiscal Year
2013
Total Cost
$25,386
Indirect Cost
$9,216
Name
Duke University
Department
Type
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
Burke, Wylie; Appelbaum, Paul; Dame, Lauren et al. (2015) The translational potential of research on the ethical, legal, and social implications of genomics. Genet Med 17:20-Dec
Angrist, M; Jamal, L (2015) Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clin Genet 87:311-8
Cook-Deegan, Robert; Chandrasekharan, Subhashini (2014) Patents and genome-wide DNA sequence analysis: is it safe to go into the human genome? J Law Med Ethics 42 Suppl 1:42-50
Angrist, Misha (2014) Open window: when easily identifiable genomes and traits are in the public domain. PLoS One 9:e92060
Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B (2014) Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenat Diagn 34:921-6
Chandrasekharan, Subhashini; Minear, Mollie A; Hung, Anthony et al. (2014) Noninvasive prenatal testing goes global. Sci Transl Med 6:231fs15
Cook-Deegan, Robert (2013) Are human genes patentable? Ann Intern Med 159:298-9
Minear, Mollie A; Kapustij, Cristina; Boden, Kaeleen et al. (2013) Cystic Fibrosis Patents: A Case Study of Successful Licensing. LES Nouv :21-30
Mathews, Debra J H; Cook-Deegan, Robert; Bubela, Tania (2013) Patents and misplaced angst: lessons for translational stem cell research from genomics. Cell Stem Cell 12:508-12
Cook-Deegan, Robert; Conley, John M; Evans, James P et al. (2013) The next controversy in genetic testing: clinical data as trade secrets? Eur J Hum Genet 21:585-8

Showing the most recent 10 out of 54 publications