Ass’n for Molecular Pathology

v.
Myriad Genetics, Inc.
133 S. Ct. 2107 (2013). Decided June 13, 2013

THOMAS, J., delivered the opinion of the Court, in which ROBERTS, C. J., and KENNEDY,
GINSBURG, BREYER, ALITO, SOTOMAYOR, and KAGAN, JJ., joined, and in which
SCALIA, J., joined in part. SCALIA, J., filed an opinion concurring in part and concurring in
the judgment. (En Banc Court)
 Myriad Genetics, Inc.

• In 1990, researchers at the University of California, Berkeley,

published a paper revealing the general location of a gene
linked to breast cancer. Soon after, a competing group of
scientists founded Myriad Genetics and obtained more than $50
million in venture capital funding to pursue related research. In
1994 and 1995, Myriad announced that it had located and
sequenced two breast cancer susceptibility genes, now termed
BRCA1 and BRCA2. Myriad then developed clinical tests to
detect BRCA gene mutations that correlate with a substantially
higher risk of developing breast and ovarian cancer.
• In addition to potential litigation expenses, amici argued that
patent exclusivity dramatically increases the cost of research
and testing. For example, nonprofit organizations have
estimated that they could test all 20,000 genes in the human
genome for about $1000, but that paying royalties for each gene
at Myriad’s BRCA rate would inflate the total cost to $37
million.
 Myriad Genetics, Inc.

• Respondent Myriad Genetics, Inc. (Myriad), discovered the precise

location and sequence of two human genes, mutations of which can
substantially increase the risks of breast and ovarian cancer.
• Myriad obtained a number of patents based upon its discovery.
• This case involves claims from three of them and requires us to
resolve whether a naturally occurring segment of deoxyribonucleic
acid (DNA) is patent eligible under 35 U. S. C. §101 by virtue of its
isolation from the rest of the human genome.
• We also address the patent eligibility of synthetically created DNA
known as complementary DNA (cDNA), which contains the same
protein-coding information found in a segment of natural DNA but
omits portions within the DNA segment that do not code for proteins.
• For the reasons that follow, we hold that a naturally occurring DNA
segment is a product of nature and not patent eligible merely because
it has been isolated, but that cDNA is patent eligible because it is not
naturally occurring.
 Myriad Genetics, Inc.

• Genes form the basis for hereditary traits in living organisms.

• The human genome consists of approximately 22,000 genes packed into
23 pairs of chromosomes. Each gene is encoded as DNA, which takes the
shape of the familiar “double helix” that Doctors James Watson and
Francis Crick first described in 1953.
• Each “cross-bar” in the DNA helix consists of two chemically joined
nucleotides. The possible nucleotides are adenine (A), thymine (T),
cytosine (C), and guanine (G), each of which binds naturally with
another nucleotide: A pairs with T; C pairs with G. The nucleotide cross-
bars are chemically connected to a sugar-phosphate backbone that forms
the outside framework of the DNA helix. Sequences of DNA nucleotides
contain the information necessary to create strings of amino acids, which
in turn are used in the body to build proteins. Only some DNA
nucleotides, however, code for amino acids; these nucleotides are known
as “exons.” Nucleotides that do not code for amino acids, in contrast, are
known as “introns.”
 Myriad Genetics, Inc.

• Creation of proteins from DNA involves two principal steps, known as

transcription and translation. In transcription, the bonds between DNA
nucleotides separate, and the DNA helix unwinds into two single strands. A
single strand is used as a template to create a complementary ribonucleic acid
(RNA) strand. The nucleotides on the DNA strand pair naturally with their
counterparts, with the exception that RNA uses the nucleotide base uracil (U)
instead of thymine (T). Transcription results in a single strand RNA molecule,
known as pre-RNA, whose nucleotides form an inverse image of the DNA
strand from which it was created. Pre-RNA still contains nucleotides
corresponding to both the exons and introns in the DNA molecule. The pre-
RNA is then naturally “spliced” by the physical removal of the introns. The
resulting product is a strand of RNA that contains nucleotides corresponding
only to the exons from the original DNA strand. The exons-only strand is
known as messenger RNA (mRNA), which creates amino acids through
translation. In translation, cellular structures known as ribosomes read each set
of three nucleotides, known as codons, in the mRNA. Each codon either tells
the ribosomes which of the 20 possible amino acids to synthesize or provides a
stop signal that ends amino acid production.
 Myriad Genetics, Inc.

• DNA’s informational sequences and the processes that create

mRNA, amino acids, and proteins occur naturally within cells.
Scientists can, however, extract DNA from cells using well
known laboratory methods. These methods allow scientists to
isolate specific segments of DNA— for instance, a particular
gene or part of a gene—which can then be further studied,
manipulated, or used. It is also possible to create DNA
synthetically through processes similarly well known in the
field of genetics. One such method begins with an mRNA
molecule and uses the natural bonding properties of nucleotides
to create a new, synthetic DNA molecule. The result is the
inverse of the mRNA’s inverse image of the original DNA, with
one important distinction: Because the natural creation of
mRNA involves splicing that removes introns, the synthetic
DNA created from mRNA also contains only the exon
sequences. This synthetic DNA created in the laboratory from
mRNA is known as complementary DNA (cDNA).
 Myriad Genetics, Inc.

• Changes in the genetic sequence are called mutations.

Mutations can be as small as the alteration of a single
nucleotide—a change affecting only one letter in the
genetic code. Such small-scale changes can produce an
entirely different amino acid or can end protein
production altogether. Large changes, involving the
deletion, rearrangement, or duplication of hundreds or
even millions of nucleotides, can result in the elimination,
misplacement, or duplication of entire genes. Some
mutations are harmless, but others can cause disease or
increase the risk of disease. As a result, the study of
genetics can lead to valuable medical breakthroughs.
 Myriad Genetics, Inc.

•This case involves patents filed by Myriad after it made one

such medical breakthrough. Myriad discovered the precise
location and sequence of what are now known as the BRCA1
and BRCA2 genes. Mutations in these genes can dramatically
increase an individual’s risk of developing breast and ovarian
cancer. The average American woman has a 12- to 13-percent
risk of developing breast cancer, but for women with certain
genetic mutations, the risk can range between 50 and 80
percent for breast cancer and between 20 and 50 percent for
ovarian cancer. Before Myriad’s discovery of the BRCA1 and
BRCA2 genes, scientists knew that heredity played a role in
establishing a woman’s risk of developing breast and ovarian
cancer, but they did not know which genes were associated
with those cancers.
 Myriad Genetics, Inc.

• Myriad identified the exact location of the BRCA1 and

BRCA2 genes on chromosomes 17 and 13. Chromosome
17 has approximately 80 million nucleotides, and
chromosome 13 has approximately 114 million.
• Within those chromosomes, the BRCA1 and BRCA2 genes
are each about 80,000 nucleotides long. If just exons are
counted, the BRCA1 gene is only about 5,500 nucleotides
long; for the BRCA2 gene, that number is about 10,200.
• Knowledge of the location of the BRCA1 and BRCA2
genes allowed Myriad to determine their typical nucleotide
sequence. That information, in turn, enabled Myriad to
develop medical tests that are useful for detecting
mutations in a patient’s BRCA1 and BRCA2 genes and
thereby assessing whether the patient has an increased risk
of cancer.
 Myriad Genetics, Inc.
• Myriad’s patents would, if valid, give it the exclusive right to isolate an
individual’s BRCA1 and BRCA2 genes (or any strand of 15 or more nucleotides
within the genes) by breaking the covalent bonds that connect the DNA to the
rest of the individual’s genome. The patents would also give Myriad the
exclusive right to synthetically create BRCA cDNA. In Myriad’s view,
manipulating BRCA DNA in either of these fashions triggers its “right to
exclude others from making” its patented composition of matter under the Patent
Act. 35 U. S. C. §154(a)(1); see also §271(a) (“[W]hoever without authority
makes . . . any patented invention . . . infringes the patent”).
• But isolation is necessary to conduct genetic testing, and Myriad was not the
only entity to offer BRCA testing after it discovered the genes. The University of
Pennsylvania’s Genetic Diagnostic Laboratory (GDL) and others provided
genetic testing services to women. Petitioner Dr. Harry Ostrer, then a researcher
at New York University School of Medicine, routinely sent his patients’ DNA
samples to GDL for testing. After learning of GDL’s testing and Ostrer’s
activities, Myriad sent letters to them asserting that the genetic testing infringed
Myriad’s patents. In response, GDL agreed to stop testing and informed Ostrer
that it would no longer accept patient samples. Myriad also filed patent
infringement suits against other entities that performed BRCA testing, resulting
in settlements in which the defendants agreed to cease all allegedly infringing
activity.
 Myriad Genetics, Inc.

•35 U. S. C. §101.
• We have “long held that this provision contains an
important implicit exception[:] Laws of nature, natural
phenomena, and abstract ideas are not patentable.” Rather,
“ ‘they are the basic tools of scientific and technological
work’” that lie beyond the domain of patent protection. As
the Court has explained, without this exception, there
would be considerable danger that the grant of patents
would “tie up” the use of such tools and thereby “inhibit
future innovation premised upon them.” This would be at
odds with the very point of patents, which exist to promote
creation. Diamond v. Chakrabarty, 447 U. S. 303, 309
(1980) (Products of nature are not created, and “
‘manifestations . . . of nature [are] free to all men and
reserved exclusively to none’ ”).
 Myriad Genetics, Inc.

• The rule against patents on naturally occurring things is not

without limits, however, for “all inventions at some level
embody, use, reflect, rest upon, or apply laws of nature,
natural phenomena, or abstract ideas,” and “too broad an
interpretation of this exclusionary principle could
eviscerate patent law.” As we have recognized before,
patent protection strikes a delicate balance between
creating “incentives that lead to creation, invention, and
discovery” and “imped[ing] the flow of information that
might permit, indeed spur, invention.” We must apply this
well-established standard to determine whether Myriad’s
patents claim any “new and useful . . . composition of
matter,” §101, or instead claim naturally occurring
phenomena.
 Myriad Genetics, Inc.

• It is undisputed that Myriad did not create or alter any of the genetic
information encoded in the BRCA1 and BRCA2 genes. The location
and order of the nucleotides existed in nature before Myriad found
them. Nor did Myriad create or alter the genetic structure of DNA.
In- stead, Myriad’s principal contribution was uncovering the
precise location and genetic sequence of the BRCA1 and BRCA2
genes within chromosomes 17 and 13. The question is whether this
renders the genes patentable.
• Groundbreaking, innovative, or even brilliant discovery does not by
itself satisfy the §101 inquiry.
• Myriad found the location of the BRCA1 and BRCA2 genes, but
that discovery, by itself, does not render the BRCA genes “new . . .
composition[s] of matter,” §101, that are patent eligible.
• Extensive effort alone is insufficient to satisfy the demands of §101.
 Myriad Genetics, Inc.

• Nor are Myriad’s claims saved by the fact that isolating DNA from
the human genome severs chemical bonds and thereby creates a
non-naturally occurring molecule. Myriad’s claims are simply not
expressed in terms of chemical composition, nor do they rely in any
way on the chemical changes that result from the isolation of a
particular section of DNA. Instead, the claims understandably focus
on the genetic information encoded in the BRCA1 and BRCA2
genes. If the patents depended upon the creation of a unique
molecule, then a would-be infringer could arguably avoid at least
Myriad’s patent claims on entire genes by isolating a DNA sequence
that included both the BRCA1 or BRCA2 gene and one additional
nucleotide pair. Such a molecule would not be chemically identical
to the molecule “invented” by Myriad. But Myriad obviously would
resist that outcome because its claim is concerned primarily with the
information contained in the genetic sequence, not with the specific
chemical composition of a particular molecule.
 Myriad Genetics, Inc.

• Finally, Myriad argues that the PTO’s past practice of

awarding gene patents is entitled to deference.
• Undercutting the PTO’s practice, the United States argued
in the Federal Circuit and in this Court that isolated DNA
was not patent eligible under §101, . . . PTO’s practice
was not “a sufficient reason to hold that isolated DNA is
patent-eligible.” These concessions weigh against
deferring to the PTO’s determination.
 Myriad Genetics, Inc.

• cDNA does not present the same obstacles to patentability as

naturally occurring, isolated DNA segments. As already
explained, creation of a cDNA sequence from mRNA results in an
exons-only molecule that is not naturally occurring. Petitioners
concede that cDNA differs from natural DNA in that “the non-
coding regions have been removed.
• They nevertheless argue that cDNA is not patent eligible because
“[t]he nucleotide sequence of cDNA is dictated by nature, not by
the lab technician.” That may be so, but the lab technician
unquestionably creates something new when cDNA is made.
cDNA retains the naturally occurring exons of DNA, but it is
distinct from the DNA from which it was derived. As a result,
cDNA is not a “product of nature” and is patent eligible under
§101, except insofar as very short series of DNA may have no
intervening introns to remove when creating cDNA. In that
situation, a short strand of cDNA may be indistinguishable from
natural DNA.
 Myriad Genetics, Inc.

• It is important to note what is not implicated by this decision. First, there are
no method claims before this Court. Had Myriad created an innovative
method of manipulating genes while searching for the BRCA1 and BRCA2
genes, it could possibly have sought a method patent. But the processes used
by Myriad to isolate DNA were well understood by geneticists at the time of
Myriad’s patents “were well understood, widely used, and fairly uniform
insofar as any scientist engaged in the search for a gene would likely have
utilized a similar approach,” and are not at issue in this case.

• Similarly, this case does not involve patents on new applications of

knowledge about the BRCA1 and BRCA2 genes. Judge Bryson aptly noted
that, “[a]s the first party with knowledge of the [BRCA1 and BRCA2]
sequences, Myriad was in an excellent position to claim applications of that
knowledge. Many of its unchallenged claims are limited to such
applications.”

• Nor do we consider the patentability of DNA in which the order of the

naturally occurring nucleotides has been altered. Scientific alteration of the
genetic code presents a different inquiry, and we express no opinion about
the application of §101 to such endeavors. We merely hold that genes and the
information they encode are not patent eligible under §101 simply because
they have been isolated from the surrounding genetic material.
 Myriad Genetics, Inc.

• JUSTICE SCALIA, concurring in part and concurring in

the judgment.
• I join the judgment of the Court, and all of its opinion
except Part I–A and some portions of the rest of the
opinion going into fine details of molecular biology. I
am un- able to affirm those details on my own
knowledge or even my own belief. It suffices for me to
affirm, having studied the opinions below and the
expert briefs presented here, that the portion of DNA
isolated from its natural state sought to be patented is
identical to that portion of the DNA in its natural state;
and that complementary DNA (cDNA) is a synthetic
creation not normally present in nature.