Not every valuable scientific contribution needs patent protection to come into existence, and not every scientific contribution that benefits from patent protection produces a net gain for the public. The patent system rests on the premise that inventors and investors will underinvest in research unless offered a temporary monopoly in exchange for disclosure. Whether that premise holds for any given field of inquiry is an empirical question, not an axiom, and the answer can vary substantially across research types, investment horizons, and competitive structures. Gene patents present the question in its sharpest form: the isolated DNA claims that Association for Molecular Pathology v. Myriad Genetics, 569 U.S. 576 (2013), invalidated were issued in large numbers over two decades without anyone rigorously testing whether they were, on balance, necessary to generate the research they claimed to reward. This Article uses the Myriad decision and the BRCA controversy to examine whether the patent system “fits” the economics of genomic research — or whether the incentive structure it creates produces results the system was not designed to generate.
The Fit Problem
The fit metaphor, used here as it has been used in the academic literature on intellectual property and innovation, captures the idea that patent protection is appropriate for some inventions but not others; that the mismatch between patent incentives and innovation economics can produce harm as well as benefit; and that the relevant policy question is not whether to protect scientific discovery in general but whether the specific protection offered by the patent system is well calibrated to the specific economics of the field under examination.
Genomic research presents an unusually complex fit problem for three independent reasons. First, basic genomic sequences — the information content of the genome — are properly understood as the shared substrate of biological knowledge. Patents on that substrate create blocking positions that can prevent downstream research, including research by the original patent holder’s competitors and successors. Second, the principal commercial application of genomic sequence information — diagnostic testing — is subject to economies of scale and network effects that make monopoly pricing especially costly. Third, the regulatory pathway for diagnostic tests requires clinical validation data that is typically generated after patents are filed; the patent system thus awards protection on the basis of a disclosure that does not fully capture the inventive contribution that actually makes the test commercially valuable.
The Myriad Decision: Natural Products and cDNA
The Supreme Court’s analysis in Myriad was narrower than either side in the decade-long litigation had wanted. Writing for a unanimous Court, Justice Thomas held that isolated DNA is not patent-eligible because isolation does not create a new chemical entity; it merely removes naturally occurring sequences from their chromosomal context. The information content of the isolated sequence — the nucleotide sequence that encodes protein structure — is identical to the sequence in the genome. The act of isolation changes the physical form of the DNA but not the genetic information it carries, and it is the genetic information that makes the sequence valuable. To hold isolated DNA patentable would be to allow patenting of the information in the genome itself, which the Court correctly identified as a step the statute does not authorize.
The Court drew the line at complementary DNA (cDNA), which is synthesized in the laboratory by reverse-transcribing messenger RNA and therefore lacks the introns — non-coding sequences — present in genomic DNA. A cDNA sequence for BRCA1 does not exist naturally; it is the product of a laboratory process that strips out the introns and leaves only the coding sequences. The Court held that this structural difference from naturally occurring sequences takes cDNA outside the product-of-nature exception. The holding echoed Diamond v. Chakrabarty, 447 U.S. 303 (1980), which had held that a human-made bacterium engineered to degrade oil was patent-eligible as a manufacture or composition of matter. The Chakrabarty bacterium, like cDNA, was the product of human manipulation that produced something distinct from what nature provides.
The cDNA carve-out is narrower than it appears. For genes with no introns — a small but not trivial category — the genomic sequence and the corresponding cDNA are identical, and both are therefore excluded. More importantly, Myriad’s § 101 analysis applies only to composition-of-matter claims. Method claims on the use of genomic sequence information in diagnostics, and on methods of comparing sequences to identify variants, remained subject to the separate and arguably more severe framework established by Mayo Collaborative Services v. Prometheus Laboratories, 566 U.S. 66 (2012), which had invalidated diagnostic method patents for correlating drug metabolite levels with dosing as claims on natural laws. Method claims that recite natural correlations — the correlation between a BRCA1 variant and cancer risk, for example — would fail under Mayo for the same reason that isolated DNA failed under Myriad: the claimed subject matter reduces, at a sufficient level of abstraction, to a natural phenomenon that the patent system cannot appropriate.
Innovation Economics of Genomic Sequencing
The economic case for gene patents has always rested on the costs of genomic research and the public-goods character of sequence information once discovered. If identifying a disease-associated sequence required substantial investment in clinical sample collection, sequencing technology, and statistical analysis, and if competitors could freely use the sequence once published, the patent system provided a plausible mechanism for cost recovery. The argument had force in 1994, when BRCA1 was first identified, when sequencing was expensive and difficult, and when the commercial application of the sequence was far from clear.
By 2013 the argument had weakened considerably. Next-generation sequencing had reduced the per-base cost of DNA sequencing by several orders of magnitude over the previous decade. The marginal cost of identifying a sequence variant, given the platform infrastructure, had fallen to near zero. The human genome was fully sequenced and publicly deposited. In the post-Myriad environment, the question is not whether genomic sequence information can be discovered affordably — it can — but whether the downstream development of clinical diagnostic tests requires the kind of long-term, high-risk, capital-intensive investment that patent protection was designed to encourage. For that question the record is genuinely mixed, and the BRCA controversy is a poor archetype.
Diagnostic Testing, Access, and the BRCA Controversy
Myriad Genetics built its clinical laboratory business on the exclusive BRCA1 and BRCA2 patents. For nearly two decades it held the only BRCA testing service in the United States, charged approximately $3,000 to $4,000 per test, and declined to allow independent laboratories to offer confirmatory testing. Patients who could not afford the test, or whose insurers declined coverage, could not access BRCA testing at all; patients who received a positive result could not obtain a second opinion from an independent laboratory. The clinical genetics community documented dozens of instances in which Myriad’s refusal to share variant data hindered the interpretation of variants of uncertain significance — sequence variants whose clinical significance depended on population-level data that Myriad declined to contribute to shared databases.
The access problem was not an incidental consequence of patent law; it was its direct result. Patent exclusivity, combined with Myriad’s enforcement posture, produced a diagnostic monopoly that concentrated data, restricted competition, and allowed Myriad to set prices well above any plausible measure of cost recovery. Within months of the Myriad decision, multiple competing BRCA testing services entered the market, prices fell substantially, and confirmatory testing became available. The rapid entry of competitors after the decision suggests that the patent barrier, not first-mover advantage or genuine platform lock-in, was the primary source of Myriad’s market position.
Beyond Myriad: The § 101 Landscape After Mayo
Myriad is best understood not as an isolated genomics decision but as part of a broader reconfiguration of § 101 doctrine that began with Bilski v. Kappos, 561 U.S. 593 (2010), accelerated with Mayo in 2012, continued with Myriad in 2013, and was extended to software in Alice Corp. v. CLS Bank International, 573 U.S. 208 (2014). The common thread in all four cases is judicial concern that the patent system was being used to claim natural phenomena, abstract ideas, and natural laws in ways that hindered rather than promoted follow-on innovation.
For genomics, the post-Myriad landscape is more uncertain than the decision itself suggests. cDNA composition claims survive, but their practical value is limited: the diagnostically relevant information in a gene sequence is not changed by removing introns. Method claims on diagnostic correlations remain governed by Mayo’s two-step framework, which asks first whether the claim is directed to a law of nature, and second whether the remaining claim elements add “significantly more” than the law of nature itself. Most method claims that recite a natural biological correlation as their inventive contribution fail this test, as do claims that add only conventional laboratory steps such as hybridization, PCR amplification, or sequence comparison. The practical result is that the diagnostic patent landscape that Myriad once navigated with its composition claims now turns on the difficult question of what “significantly more” means.
Toward a Calibrated Patent Policy for Genomics
The Supreme Court’s decisions in Mayo and Myriad correctly identified that isolated gene sequences and bare diagnostic correlations are not the kind of inventions the patent system was designed to protect. The harder question is whether a calibrated patent policy for genomics can preserve incentives for the genuinely inventive contributions that genomic research does produce: novel methods of identifying variants with clinical significance, computational tools for variant interpretation, therapeutic applications of genomic data, and platform technologies for high-throughput sequencing. None of these contributions is obviously excluded by Myriad or Mayo, but the breadth of § 101 analysis as currently applied has created substantial uncertainty that falls disproportionately on the early-stage research for which patent protection was most clearly designed.
A calibrated policy would distinguish between patents on the raw material of genomic knowledge — sequence information itself — and patents on specific applications of that knowledge that meet the conventional requirements of novelty, nonobviousness, and enablement. It would treat the access concerns documented in the BRCA controversy as evidence that the patent system, in this domain, was producing costs without offsetting benefits, and it would recognize that the speed of sequencing technology development has changed the cost structure of genomic research in ways that affect the strength of the original incentive argument. None of this requires abandoning patent protection for genomics entirely. It requires asking, as the fit metaphor demands, whether the incentive the patent system provides is calibrated to the actual economics of the research it is meant to reward.
Related articles: Bilski and Life Science Patents · Pharmaceutical Patents · Biotechnology and the Enablement Requirement
Frequently Asked Questions
What did the Supreme Court decide in AMP v. Myriad Genetics?
In Association for Molecular Pathology v. Myriad Genetics, 569 U.S. 576 (2013), the Supreme Court held unanimously that isolated DNA — genomic sequences extracted and separated from the chromosome — is a product of nature and therefore not patent-eligible under 35 U.S.C. § 101. The Court invalidated Myriad Genetics’ claims on the isolated BRCA1 and BRCA2 gene sequences. At the same time, the Court held that complementary DNA (cDNA) is patent-eligible because it is synthesized through a laboratory process that produces a nucleotide sequence lacking the introns found in naturally occurring genomic DNA.
Can complementary DNA (cDNA) be patented after Myriad?
After Myriad, cDNA sequences are patent-eligible under § 101 because they are created through reverse transcription of messenger RNA, producing a nucleotide sequence that does not occur naturally. A cDNA sequence lacks the introns present in genomic DNA, making it structurally distinct from naturally occurring sequences. However, cDNA eligibility under § 101 does not resolve novelty and nonobviousness questions, and for genes with no introns the genomic sequence and cDNA are identical — placing them outside the carve-out. Method claims using cDNA sequences in diagnostics remain separately subject to the Mayo framework.
How does the patent system affect access to genetic diagnostic testing?
Patent protection on genetic sequences or diagnostic methods can restrict access by enabling the patent holder to set high prices for testing services and to prevent independent laboratories from offering competing tests or confirmatory opinions. Before Myriad, Myriad Genetics charged approximately $3,000 to $4,000 per BRCA test, declined to allow third-party confirmatory testing, and declined to contribute variant data to shared databases. Within months of the Supreme Court’s decision, multiple competing testing services entered the market, prices fell substantially, and confirmatory testing became available. The speed of competitive entry after the decision indicates that the patent barrier, not genuine technological advantage, had been the primary source of Myriad’s market position.