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The Human Genome Project and Patenting Dna Sequences

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The Human Genome Project and Patenting Dna Sequences THE HUMAN GENOME PROJECT AND PATENTING DNA SEQUENCES April 1994 Office of Technology Assessment U.S. Congress CONTENTS* Chapter 1 Summary and Congressional Options** Chapter 2 Introduction Chapter 3 Patent Issues Chapter 4 Ethical Considerations Chapter 5 Research and Development Implications Chapter 6 Federal Technology Transfer *The final report will include several appendixes, such as a list of acronyms, a glossary, acknowledgements, methodologies, lists of contract papers and workshops, and an index. Additionally, a copy editor will review the manuscript, photos will be added, and references will be converted to numbers, based on an alpha list for each chapter. **Also printed as a separate document, with a bibliography of selected references from the full report that might be of interest, as well as available, to the general reader. CHAPTER 1 SUMMARY AND CONGRESSIONAL OPTIONS 1-1 Contents WHY PATENT DNA? ..............................................................1-4 What is DNA? ...............................................................1-5 What is a Patent? .............................................................1-6 Why the Controversy? .........................................................1-9 Who are the Stakeholders? ....................................................1-10 ETHICAL CONSIDERATIONS .....................................................1-11 IMPLICATIONS FOR RESEARCH AND DEVELOPMENT ...............................1-12 FEDERAL TECHNOLOGY TRANSFER ..............................................1-14 WHAT IS THE ROLE OF CONGRESS? ...............................................1-16 PROSPECTS FOR THE FUTURE ....................................................1-38 Boxes 1-A. Terminology ................................................................1-41 1-B. The National Institutes of Health's DNA Patent Application .............................1-42 1-C. The Human Genome Diversity Project ............................................1-44 1-D. Federal Technology Transfer Laws ...............................................1-45 Figures 1-1. Structure of DNA ...........................................................1-47 1-2. Gene Expression ............................................................1-48 Tables 1-1. The Science and Politics of Patenting DNA .........................................1-49 1-2. Patents Involving Human DNA Sequences ......................................... 1-3. Researchers' Reasons for Disapproval of NIH Patent Application ........................1-50 1-4. Researchers' Assessment of Impact of Commercialization on Academic Research ............1-51 1-5. U.S. Companies Involved in Sequencing and Mapping the Human Genome .................1-52 1-6. Summary of Policy Issues and Options for Congress ..................................1-53 1-2 It is the role of Congress, not this Court, to broaden or narrow the reach of the patent laws. This is especially true where . the composition sought to be patented uniquely implicates matters of public concern. Justice William Brennan Diamond v. Chakrabarty (1980) As the 21st century approaches, Congress and the executive branch have committed to funding scientific research and technological developments to determine the location of all human genes. Scientists around the world have undertaken the Human Genome Project--an estimated 15- year, $3 billion initiative--with the expectation that it will both advance basic knowledge, as well as improve genetic diagnoses and enhance therapies. Against the backdrop of this scientific effort, comes the realization that intellectual property law, which provides an exclusive property interest in the work of the mind, is of increasing importance to parties conducting genome research. Beginning in summer 1991 and through the next several months, the National Institutes of Health (NIH) applied for patents on thousands of human DNA sequences believed to represent approximately 5 percent of all human genes (box 1-A). Reaction to the NIH application was swift and largely negative, both in the United States and abroad. NIH’s action sparked widespread debate about the legal issues related to patentability, ethical considerations of patenting human DNA sequences, implications for research and development, and economic issues of technology transfer. In many respects, the ensuring discussion reflected existing questions about the commercialization of biomedical research, but was magnified because of the NIH move’s scope and breadth. Concern about the ethical, social, legal, economic, and scientific implications of intellectual property protection and the Human Genome Project led Senator Edward M. Kennedy, Chairman, Committee on Labor and Human Resources; Senator Mark O. Hatfield, Ranking Minority Member, Committee on Appropriations; and Senator Dennis DeConcini, Chairman, Subcommittee on Patents, 1-3 Copyrights, and Trademarks, Committee on the Judiciary to request this Office of Technology Assessment (OTA) report. The request also reflects longstanding congressional interest in genetics and biotechnology (table l-l). And, though NIH abandoned its application in February 1994, intellectual property protection, specifically--and ethical, legal, and social issues (ELSI), generally--of the Human Genome Project remain public policy issues: Since funding the Human Genome Project, Congress has appropriated more than $21 million to NIH and the U.S. Department of Energy’s (DOE) for extramural grants to study the ethical, legal, and social ramifications of the Human Genome Project. This report focuses on issues arising from patenting human DNA sequences and does not analyze the potential impact of patenting nonhuman DNA sequences--though some of the issues apply generically in considering intellectual property protection of DNA from other sources. Nevertheless, several aspects differ--e.g., ethical considerations of patenting plant or animal DNA--and exploring such differences was not possible for this assessment. Also beyond the scope of this report is an evaluation of the Human Genome Project per se and the use of information derived from it; OTA has analyzed applications of genome research elsewhere. WHY PATENT DNA? Molecular biological research and the industrial sector it spawned, biotechnology, is likely to be the principal scientific driving force for the discovery of new drugs as we enter the 21st century. The potential impact of molecular genetics on the discovery of new therapeutic entities significant. Still, human DNA sequence patents clearly had been granted prior to the NIH application (table 1-2 (pending). Why did controversy arise and who are the stakeholders? 1-4 What Is DNA? DNA, or deoxyribonucleic acid, is a chemical molecule that serves as the repository of genetic information in most living organisms. Through DNA, heritable information is passed from generation to generation. Its structure resembles a twisted ladder, referred to as a double helix (figure l-l) and consists, in part, of four chemical subunits commonly called bases. These four bases--guanine (G), adenine (A), thymine (T), and cytosine (C)--are the genetic alphabet. The bases pair predictably--A with T, and G with C--to form the double helix structure, and scientists refer to each pairing as a base pair, which also serves as a measurement unit to size DNA fragments. The unique linear order of bases--i.e., the sequence--in the DNA helix serves as the blueprint for an organism. Put differently, the sequence of bases distinguishes one segment of DNA from another, and any function that can be assigned to a particular stretch of DNA derives from the precise order of bases. Changes, or mutations, in DNA sequences can lead to genetic disease. The bridge between DNA’s chemical information and physical realization of its instructions consists of steps that convert the DNA code into biological products. Through a process called gene expression, a DNA sequence for a structural gene ultimately results in formation of a molecule called a protein (figure l-2). Proteins are required for the structure, function, and regulation of all cells, tissues, and organs in the body. Lengths of DNA ranging from fewer than 1,000 to 2 million base pairs comprise a gene, and the DNA sequence determines the composition and nature of the protein product. About 50,000 to 100,000 structural genes--i.e., DNA stretches encoding protein products--are scattered among a matrix of DNA bases that do not encode a protein. In total, over 3.3 billion base pairs constitute the human genome. 1-5 Scientists can isolate segments of DNA and determine the sequence of bases. Knowing the order of the bases does not necessarily equate with knowledge of the DNA segment’s in vivo function. Conversely, knowing only a fragment of a gene sequence can provide scientists with enough information to assign a putative role in vivo. A DNA sequence need not code for a gene product to be useful commercially or in research; the order of bases in and of itself can be valuable. Unique stretches of DNA sequences can serve as markers for disease genes, and hence be used as a diagnostic tool. Other fragments, for which scientists can only speculate about an in vivo function, are useful for paternity or forensic identification. What is a Patent? A patent gives the patent owner a temporary right to exclude all others from making, using, or selling an invention during the term of the patent. Governments grant patents--which have a legal foundation in 15th century Venetian law--under the premise that patents
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