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What are patents, and how do they work?
The patentability of inventions under U.S. law is determined by the Patent
and Trademark Office (USPTO) in the Department of Commerce. A patent application
is judged on four criteria. The invention must be "useful" in a practical
sense (the inventor must identify some useful purpose for it), "novel"
(i.e., not known or used before the filing), and "nonobvious" (i.e., not
an improvement easily made by someone trained in the relevant area). The
invention also must be described in sufficient detail to enable one skilled
in the field to use it for the stated purpose (sometimes called the "enablement"
In general, raw products of nature are not patentable. DNA products usually
become patentable when they have been isolated, purified, or modified
to produce a unique form not found in nature.
The USPTO has 3 years to issue a patent. In Europe, the timeframe is
18 months. The USPTO is adopting a similar system. Patents are good for
20 years from filing date.
In the United States, patent priority is based on the "first to invent"
principle: whoever made the invention first (and can prove it) is awarded
property rights for the 20-year period. Inventors have a one-year grace
period to file after they publish. All other countries except the Philippines,
however, follow a "first inventor to file" rule in establishing priority
when granting patents.
Many biotech patents have been applied for as provisional patents. This
means that persons or companies filing the provisional patent application
have up to one year to file their actual patent claim. The provisional
patent must contain a written description of said invention and the names
of the inventors. This one-year grace period does not count as one of
the 20 years that the patent is issued for.
When a biotechnology patent involving an altered product of nature is
issued, the patent holder is required to deposit a sample of the new invention
into one of the 26 worldwide culture depositories. Most DNA-related patents
are issued by the USPTO, the European Patent Office, or the Japanese Patent
Currently over three million genome-related patent applications have
been filed. U.S. patent applications are confidential until a patent is
issued, so determining which sequences are the subject of patent applications
is impossible. Those who use sequences from public databases today risk
facing a future injunction if those sequences turn out to be patented
by a private company on the basis of previously filed patent applications.
Patenting Genes, Gene Fragments, SNPS,
Gene Tests, Proteins, and Stem Cells
In terms of genetics, inventors must
(1) identify novel genetic sequences,
(2) specify the sequence's product,
(3) specify how the product functions in nature --ie, its use
(4) enable one skilled in the field to use the sequence for its stated
Genes and Gene Fragments
USPTO has issued a few patents for gene fragments. Full sequence and function
often are not known for gene fragments. On pending applications, their
utility has been identified by such vague definitions as providing scientific
probes to help find a gene or another EST or to help map a chromosome.
Questions have arisen over the issue of when, from discovery to development
into useful products, exclusive right to genes could be claimed.
The 300- to 500-base gene fragments, called expressed sequence tags
(ESTs), represent only 10 to 30% of the average cDNA, and the genomic
genes are often 10 to 20 times larger than the cDNA. A cDNA molecule is
a laboratory-made version of a gene that contains only its information-rich
(exon) regions; these molecules provide a way for genome researchers to
fast-forward through the genome to biologically important areas. The original
chromosomal locations and biological functions of the full genes identified
by ESTs are unknown in most cases.
Patent applications for such gene fragments have sparked controversy
among scientists, many of whom have urged the USPTO not to grant broad
patents in this early stage of human genome research to applicants who
have neither characterized the genes nor determined their functions and
In December 1999, the USPTO issued stiffer interim guidelines (made
final in January 2001) stating that more usefulness—specifically
how the product functions in nature—must now be shown before gene
fragments are considered patentable. The new rules
call for "specific and substantial utility that is credible," but some
still feel the rules are too lax.
The patenting of gene fragments is controversial. Some say that patenting
such discoveries is inappropriate because the effort to find any given
EST is small compared with the work of isolating and characterizing a
gene and gene product, finding out what it does, and developing a commercial
product. They feel that allowing holders of such "gatekeeper" patents
to exercise undue control over the commercial fruits of genome research
would be unfair. Similarly, allowing multiple patents on different parts
of the same genome sequence --say on a gene fragment, the gene, and the
protein-- adds undue costs to the researcher who wants to examine the
sequence. Not only does the researcher have to pay each patent holder
via licensing for the opportunity to study the sequence, he also has to
pay his own staff to research the different patents and determine which
are applicable to the area of the genome he wants to study.
Single nucleotide polymorphisms (SNPs) are DNA sequence variations that
occur when a single nucleotide (A,T,C,or G) in the genome sequence is
altered. For example a SNP might change the DNA sequence AAGGCTAA to ATGGCTAA.
SNPs occur every 100 to 1000 bases along the 3-billion-base human genome.
SNPs can occur in both coding (gene) and noncoding regions of the genome.
Many SNPs have no effect on cell function, but scientists believe others
could predispose people to disease or influence their response to a drug.
Variations in DNA sequence can have a major impact on how humans respond
to disease; environmental insults such as bacteria, viruses, toxins, and
chemicals; and drugs and other therapies. This makes SNPs of great value
for biomedical research and for developing pharmaceutical products or
medical diagnostics. Scientists believe SNP maps will help them identify
the multiple genes associated with such complex diseases as cancer, diabetes,
vascular disease, and some forms of mental illness. These associations
are difficult to establish with conventional gene-hunting methods because
a single altered gene may make only a small contribution to the disease.
In April 1999, ten large pharmaceutical companies and the U.K. Wellcome
Trust philanthropy announced the establishment of a non-profit foundation
to find and map 300,000 common SNPs (they found 1.8 million). Their goal
was to generate a widely accepted, high-quality, extensive, publicly available
map using SNPs as markers evenly distributed throughout the human genome.
The consortium planned to patent all the SNPs found but to enforce the
patents only to prevent others from patenting the same information. Information
found by the consortium is freely available.
As disease genes are found, complementary gene tests are developed to
screen for the gene in humans who suspect they may be at risk for developing
the disease. These tests are usually patented and licensed by the owners
of the disease gene patent. Royalties are due the patent holder each time
the tests are administered, and only licensed entities can conduct the
Proteins do the work of the cell. A complete set of genetic information
is contained in each cell. This information provides a specific set of
instructions to the body. The body carries out these instructions via
proteins. Genes encode proteins.
All living organisms are composed largely of proteins, which have three
main cellular functions: to provide cell structure and be involved in
cell signaling and cell communication functions. Enzymes are proteins.
Proteins are important to researchers because they are the links between
genes and pharmaceutical development. They indicate which genes are expressed
or are being used. Important for understanding gene function, proteins
also have unique shapes or structures. Understanding these structures
and how potential pharmaceuticals will bind to them is a key element in
Therapeutic cloning, also called "embryo cloning" or "cloning
for biomedical research," is the production of human embryos for
use in research. The goal of this process is not to create cloned human
beings but rather to harvest stem cells that can be used to study human
development and treat disease. Stem cells are important to biomedical
researchers because they can be used to generate virtually any type of
specialized cell in the human body. See the Cloning
page for more information on therapeutic and other types of cloning.
Cell lines and genetically modified single-cell organisms are considered
patentable material. One of the earliest cases involving the patentability
of single-cell organisms was Diamond v. Chakrabarty in 1980, in which
the Supreme Court ruled that genetically modified bacteria were patentable.
Patents for stem cells from monkeys and other organisms already have
been issued. Therefore, based on past court rulings, human embryonic stem
cells are technically patentable. A lot of social and legal controversy
has developed in response to the potential patentability of human stem
cells. A major concern is that patents for human stem cells and human
cloning techniques violate the principle against the ownership of human
beings. In the U.S. patent system, patents are granted based on existing
technical patent criteria. Ethical concerns have not influenced this process
in the past, but, the stem cell debate may change this. It will be interesting
to see how patent law regarding stem cell research will play out.(1)
Research scientists who work in public institutions often are troubled
by the concept of intellectual property because their norms tell them
that science will advance more rapidly if researchers enjoy free access
to knowledge. By contrast, the law of intellectual property rests on an
assumption that, without exclusive rights, no one will be willing to invest
in research and development (R&D).
Patenting provides a strategy for protecting inventions without secrecy.
A patent grants the right to exclude others from making, using, and selling
the invention for a limited term, 20 years from application filing date
in most of the world. To get a patent, an inventor must disclose the invention
fully so as to enable others to make and use it. Within the realm of industrial
research, the patent system promotes more disclosure than would occur
if secrecy were the only means of excluding competitors. This is less
clear in the case of public-sector research, which typically is published
with or without patent protection.
The argument for patenting public-sector inventions is a variation on
the standard justification for patents in commercial settings. The argument
is that postinvention development costs typically far exceed preinvention
research outlays, and firms are unwilling to make this substantial investment
without protection from competition. Patents thus facilitate transfer
of technology to the private sector by providing exclusive rights to preserve
the profit incentives of innovating firms. Patents are generally considered
to be very positive. In the case of genetic patenting, it is the scope
and number of claims that has generated controversy.
What are some of the potential arguments for
- Researchers are rewarded for their discoveries and can use monies
gained from patenting to further their research
- The investment of resources is encouraged by providing a monopoly
to the inventor and prohibiting competitors from making, using, or selling
the invention without a license.
- Wasteful duplication of effort is prevented.
- Research is forced into new, unexplored areas.
- Secrecy is reduced and all researchers are ensured access to the new
What are some of the potential arguments against gene
- Patents of partial and uncharacterized cDNA sequences will reward
those who make routine discoveries but penalize those who determine
biological function or application (inappropriate reward given to the
easiest step in the process).
- Patents could impede the development of diagnostics and therapeutics
by third parties because of the costs associated with using patented
- Patent stacking (allowing a single genomic sequence to be patented
in several ways such as an EST, a gene, and a SNP) may discourage product
development because of high royalty costs owed to all patent owners
of that sequence; these are costs that will likely be passed on to the
- Because patent applications remain secret until granted, companies
may work on developing a product only to find that new patents have
been granted along the way, with unexpected licensing costs and possible
- Costs increase not only for paying for patent licensing but also for
determining what patents apply and who has rights to downstream products.
- Patent holders are being allowed to patent a part of nature --a basic
constituent of life; this allows one organism to own all or part of
- Private biotechs who own certain patents can monopolize certain gene
- Patent filings are replacing journal articles as places for public
disclosure --reducing the body of knowledge in the literature.
What does U.S. patent policy say about gene patenting?
- 1980 Diamond v. Chakrabarty
Prior to 1980, life forms were considered a part of nature and were
not patentable. Diamond v. Chakrabarty changed this with the 5
to 4 U.S. Supreme Court decision that genetically engineered (modified)
bacteria were patentable because they did not occur naturally in nature.
In this case, Chakrabarty had modified a bacteria to create an oil-dissolving
- Since Diamond v. Chakrabarty, patents have been issued on whole genes
whose function is known. More recently, inventors began to seek patents
on sequences of DNA that were less than a whole gene. The Patent Office
has developed guidelines on how to deal with these fragments since they
often do not have a known function.
- Some patents have been granted for fragments of DNA. That presents
the problem of someone trying to patent a larger fragment or gene that
contains the already patented sequence. Questions have been raised as
to whether the second inventor will need to obtain a license from the
first or whether he can obtain the patent without the first patent holder's
permission. These types of questions are likely to arise in the near
future and will most likely be resolved in courts designated to hear
- Patents have been prohibited by Congress in only a few cases where
the issuance of a patent was contrary to the public interest.
An example of this was the prohibition of patents on nuclear weapons.
The American Medical Association has made a similar request against
the patenting of medical and surgical procedures.
- U.S. House of Representatives Oversight Hearing on "Gene
Patents and Other Genomic Inventions" Thursday, July 13, 2000. Related
How does genome information placed in the public
domain work? Who can use it?
All genome sequence generated by the Human Genome Project has been deposited
into GenBank, a public database freely accessible by anyone with a connection
to the Internet. For an introduction on how to search GenBank and other
nucleotide databases at the National Center of Biotechnology Information,
see the Gene
and Protein Database Guide and a related tutorial
available at Gene
Gateway, an online guide to learning about genes, proteins, and disorders.
Disseminating information in the public domain encourages widespread
use of information, minimizes transaction costs, and makes R&D cheaper
and faster. Of particular relevance to research science, a vigorous public
domain can supply a meeting place for people, information, and ideas that
might not find each other in the course of more organized, licensed encounters.
Information in the public domain is accessible to users who otherwise
would be priced out of the market.
Patent and Intellectual Property Organizations
General Patent Information
Statements and Position Papers
Articles and Reports
Patents Inhibit Innovation - From New Scientist, July 23, 2002
- Genome Scientists: Gene Patents are Bad - From Forbes, June 2002.
Gene Patents in the Public Interest? - From BIO-IT World November
Patents May Stunt Research - From News in Science, an Australian
news service, November 11, 2002.
Ethics of Patenting DNA - Downloadable paper produced by the Nuffield
Council on Bioethics in the U.K., July 23, 2002.
Circumvention: Molecular Switches Provide a Route Around Existing Gene
Patents - From Scientific American, July 2002.
Gene Patents Wrap Research in Red Tape? - From the San Francisco
Chronicle, March 25, 2002.
a Smaller Genome Complicate the Patent Chase? - Science article,
in a Genetic Age - Nature article, February 2001.
Fate of Gene Patents Under the New Utility Guidelines - From Duke
Law and Technology Review, February 28, 2001.
Guide to Gene Patents - From Guardian Unlimited in the U.K., November
- Gene Patenting Update:
U.S. PTO Tightens Requirements - From Human Genome News,
- Witnesses Testify About
Patenting Genes - From Human Genome News, Nov. 2000.
Genes - NewsHour with Jim Lehrer transcript, July 6, 2000.
- DNA Patents
Create Monopolies on Living Organisms - Actionbioscience.org article
from the Council for Responsible Genetics, April 2000.
Explains Proposed Guidelines - From The Scientist, March
Faces Evolving Patent System - From The Scientist, March
2000: The Genome - From Signals Magazine, March 2000.
Patents Raise Concerns for Researchers, Clinicians - From American
Medical News, February 21, 2000.
1. T. A. Caufield. From human genes to stem cells:
new challenges for patent law? Trends in Biotechnology 21:
101-103. March 2003.
Information on this page was compiled from numerous sources including
but not limited to HUGO, Science, The Scientist, Gene
Letter, Signals Magazine, and Human Genome News.
A special thanks to Chris Dummer at Oak Ridge National Laboratory for
her review and comments on this page.