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Policy on Availability of Genomic DNA Sequence Funded by NHGRI

July 1, 1999

Overview

This document describes the policy of the National Human Genome Research Institute (NHGRI) with respect to the availability of genomic DNA sequence produced by its grantees. In conformity with the existing spirit and philosophy of the Human Genome Project (HGP), and in response to the recommendations of advisors and the expressed wishes of the community, NHGRI policies are intended to make DNA sequence information available as rapidly and freely as possible.

Background

The HGP is an international research effort, begun in 1990, which has the scientific goals of generating maps of the human genome and producing the complete DNA sequences of several organisms, including the complete sequence of the human DNA by the year 2005. The project was undertaken in the United States following the advice of several scientific committees that emphasized its importance in creating a resource that "will facilitate research in biochemistry, physiology and medicine," have "a major impact on health care and disease prevention," and provide "enormous scientific and technological advances ... having both basic and commercial applications." At the National Institutes of Health (NIH), the NHGRI was founded to implement the HGP.

The HGP has progressed rapidly, even beyond optimistic expectations. The initial mapping goals have been completed. The DNA sequences of E. coli (and a number of other microorganisms), S. cerevisiae, and C. elegans have already been completed, while the D. melanogaster DNA sequence is expected to be completed within one year. A large-scale mammalian DNA sequencing pilot project program, initiated in 1996, has been successfully concluded. Now, large-scale sequencing projects have been initiated to complete a working draft of the human genome sequence no later than 2001 and the finished sequence shortly thereafter; a comparable program to generate the sequence of the mouse genome is also being initiated.

At the inception of the HGP, the planners emphasized that, in order to reap the maximum benefit from the HGP, human DNA sequence should be freely available in the public domain. The NIH Ad Hoc Program Advisory Committee on Complex Genomes stated that "Distribution of and free access to the databases (containing the sequence data) must be fully encouraged. Thus, the data must be in the public domain, and the redistribution of the data should remain free of royalties." Similarly, the National Research Council stated: "... access to all sequences and material generated by these publicly funded projects should and even must be made freely available ..." . In 1996, an international group of scientists, from both the public and private sectors, who were already involved in genomic DNA sequencing, passed a unanimous resolution that "all human genomic DNA sequence information, generated by centers funded for large-scale human sequencing, should be freely available and in the public domain in order to encourage research and development and to maximize its benefit to society." Subsequent international meetings, in 1997 and 1998, reaffirmed that policy and extended it to include the genomic DNA sequence of all organisms.

There are very strong scientific arguments that human genomic DNA sequence should be freely available and in the public domain:

• The human genomic DNA sequence is unique. Although there are many other types of information that contribute to the understanding of human biology, e.g., DNA sequence of model organism genomes, in the end, the only source of definitive information about the human is the human sequence.
  
  
• The human genomic DNA sequence is a vast resource. It contains a very large number of genes and an enormous amount of additional biological information. It is anticipated that the sequence resource will be the basis for many useful inventions and patentable products. It will take many researchers years to find and characterize all of the genes and other functional elements within the sequence and to use that information to develop products and other approaches that will improve the health of the American people.
  
  
• The human genome is a bounded resource. Once the genome has been sequenced, few or no opportunities will exist for discovery of new information that will not make reference to, or be dependent on, that first sequence. Thus, it is important to ensure maximum access of a large number of parties to the initial genomic DNA sequence as it is generated, to provide a broad opportunity for development of new products.

These considerations also pertain to the genomic DNA sequences of other organisms.

Consequently the NHGRI policy applies to all organisms.

In NHGRI's opinion, raw genomic DNA sequence, in the absence of additional experimental biological information, lacks demonstrated specific utility and therefore is an inappropriate material for patent filing. NIH is concerned that patent applications on large blocks of primary (i.e., unannotated and without additional utility) genomic DNA sequence could have a chilling effect on the development of future inventions of useful products. Companies are not likely to pursue projects where they believe it is unlikely that effective patent protection will be available to them. Composition of matter patents on large blocks of primary sequence will make it difficult to protect the fruit of subsequent inventions resulting from real creative effort. At the same time, the NHGRI recognizes that, according to the Bayh-Dole Act, grantees have the right to elect to retain title to subject inventions and are free to choose to apply for patents should additional biological experiments reveal convincing evidence for utility.

Policy

It is NHGRI's policy that genomic DNA sequence data from the human and other organisms, generated by the large-scale sequencing projects it funds, should be released as rapidly as possible and placed in the public domain where they will be freely available. In order to implement this policy, NHGRI requires that its grantees engaged in production sequencing of human and/or other genomic DNA propose a plan for rapid release of finished and unfinished data to public databases. This plan is made a term and condition of the award.

For the reasons stated above, NHGRI discourages the patenting of large blocks of primary genomic DNA sequence in the absence of functional data. Grantees are reminded that the grantee institution is required to disclose each subject invention to the Federal Agency providing research funds within two months after the inventor discloses it in writing to grantee institution personnel responsible for patent matters. NHGRI will monitor grantee activity in this area to learn whether or not attempts are being made to patent large blocks of primary genomic DNA sequence.

NHGRI has for the past three years, solicited opinions and collected evidence from the broad scientific and commercial sectors to allow an evaluation of whether the approach described above has been sufficient to ensure that sequence generated by its grants has been maximally useful to the research and commercial sectors. It is NHGRI's conclusion that, to date, this approach has been sufficient to ensure the free availability of genomic sequence. However, if in the future, circumstances arise that convince NIH that additional measures are needed, it reserves the right to consider a determination of exceptional circumstance to restrict or eliminate the right of parties, under future grants, to elect to retain title.

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Last Reviewed: March 9, 2012