In June 2013, the U.S. Supreme Court unanimously ruled in Association for Molecular Pathology v. Myriad Genetics that naturally occurring human genes cannot be patented, striking down patents that had given one company exclusive control over testing for mutations linked to hereditary breast and ovarian cancer. The decision did not merely resolve a dispute between a Utah-based biotech firm and a coalition of researchers, doctors, and patients. It redrew the legal boundary between nature and invention in American patent law, with consequences that rippled through the genetic testing industry, international courts, and the broader question of who gets to own and profit from the building blocks of human biology.
What Myriad Controlled and Why It Mattered
The story begins with two genes: BRCA1 and BRCA2. Scientists identified BRCA1 in 1994 and BRCA2 in 1995, and research quickly established that certain mutations in these genes dramatically increase a person’s lifetime risk of developing breast and ovarian cancer.1PubMed Central. BRCA1 and BRCA1 Genes and Inherited Breast and/or Ovarian Cancer: Benefits of Genetic Testing Myriad Genetics, which had been involved in the race to locate and sequence BRCA1, filed a series of patents covering not just the isolated gene sequences but also the diagnostic methods used to detect mutations in them. Those patents gave Myriad the exclusive right to perform clinical BRCA testing in the United States.
For well over a decade, if you or your doctor wanted to know whether you carried a BRCA mutation, there was exactly one place to go: Myriad Genetics. The company’s BRACAnalysis test was the sole commercially available option. This monopoly meant Myriad could set the price, which at its peak ran above $3,000 for comprehensive sequencing of both genes. No other lab could legally offer a competing test, no matter how straightforward the underlying science became. Researchers who wanted to study the genes or develop alternative tests faced the risk of patent infringement lawsuits. And patients who received ambiguous results had no way to get an independent second opinion from another lab using the same methodology.
Who Sued and What They Argued
The challenge to Myriad’s patents was organized by the American Civil Liberties Union and the Public Patent Foundation. The plaintiffs were a broad coalition: the Association for Molecular Pathology (a professional society of laboratory scientists), individual researchers, genetic counselors, breast cancer patients, and advocacy groups. Their central argument was straightforward. A naturally occurring segment of human DNA is a product of nature. Under U.S. patent law, products of nature, laws of nature, and abstract ideas have long been excluded from patentability. Myriad had not invented the BRCA genes; it had discovered where they were located in the human genome and determined their sequence. Discovery, the plaintiffs argued, is not invention.
Myriad countered that the act of isolating a gene from its surrounding chromosomal environment created something that does not exist in nature. An isolated DNA molecule, the company argued, is chemically distinct from that same stretch of DNA sitting inside a chromosome in your cells. It has been separated, purified, and made useful for diagnostic purposes. The U.S. Patent and Trademark Office had been granting gene patents on this reasoning since the 1980s, and thousands of such patents existed across the biotech industry. Myriad’s position was not eccentric; it reflected decades of established patent office practice.
The case wound its way through the courts with unusual drama. A federal district court ruled against Myriad in 2010. The Federal Circuit reversed in part. The Supreme Court sent the case back down for reconsideration in light of another ruling, and the Federal Circuit largely reinstated its earlier decision. The Supreme Court finally took the case in late 2012 and heard oral arguments in April 2013.
The Supreme Court’s Unanimous Ruling
Justice Clarence Thomas wrote the opinion for a 9-0 court. The decision drew a clean line between two types of genetic material. Naturally occurring DNA sequences, even when isolated from the body, are not patent eligible. They are products of nature, and Myriad did not create anything when it determined the precise sequence of the BRCA genes. However, complementary DNA, known as cDNA, is patent eligible because it is synthetically created in a lab. cDNA is produced by reverse-transcribing messenger RNA, and the resulting molecule differs from the naturally occurring genomic DNA because the noncoding regions have been stripped out. The court considered that distinction sufficient to make cDNA something other than a pure product of nature.
The ruling was narrow in some respects. The court explicitly left untouched any questions about patent claims on new applications of knowledge about the BRCA genes, the patentability of altered or manipulated DNA sequences, or the validity of method patents covering innovative diagnostic techniques. It addressed only the most fundamental question: can you patent a gene as it occurs in the human body, merely because you were the first to find it and describe its sequence? The answer was no.
What Changed for Patients
The most immediate practical effect was competition. Within hours of the ruling, several labs announced they would begin offering BRCA testing. Prices dropped. Ambry Genetics, GeneDx, Quest Diagnostics, and others entered the market, often bundling BRCA analysis into larger multi-gene panels at a fraction of what Myriad had charged. Patients who had been priced out of testing or whose insurers had balked at Myriad’s rates suddenly had alternatives. The broader trend in genetic testing, where sequencing costs were already plummeting due to technological advances, accelerated in this specific clinical area.2PubMed Central. After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents
The ability to get a second opinion also mattered. When a genetic test reveals a mutation of uncertain clinical significance, patients and their doctors face an agonizing gray zone. Is this variant harmful, benign, or something in between? Before the ruling, there was no way to have another lab independently analyze the same genes and provide its own interpretation. After, that became possible, and the accumulation of interpretive data across multiple labs gradually helped clarify the meaning of rare variants.
Myriad’s Counterattack and the Proprietary Data Problem
Myriad did not quietly accept competition. The company launched a wave of patent infringement suits against actual and potential competitors, relying on a portfolio of narrower patents that had survived the Supreme Court’s decision. These were not patents on the gene sequences themselves but on specific synthetic probes, primers, and methods related to BRCA testing.3PubMed Central. MYRIAD AFTER MYRIAD: THE PROPRIETARY DATA DILEMMA The litigation kept some competitors cautious and imposed real legal costs on labs entering the market.
But Myriad’s most durable advantage was not legal; it was informational. Over its years as the sole BRCA testing provider, Myriad had accumulated a massive proprietary database of genetic variants and their associated health outcomes. When a patient’s test reveals an unfamiliar mutation, determining whether it raises cancer risk depends on having data from thousands of other patients who carried the same or similar variants. Myriad had that data. Its competitors, for the most part, did not. And Myriad chose not to share it. The company declined to contribute its variant classifications to public databases like ClinVar for more than a decade, a decision that gave it a persistent interpretive edge even after its patent monopoly ended.3PubMed Central. MYRIAD AFTER MYRIAD: THE PROPRIETARY DATA DILEMMA
This created a situation that troubled many geneticists and bioethicists. The Supreme Court had removed one barrier to open competition, but Myriad’s proprietary data functioned as a different kind of moat. In announcing expanded operations in Europe, the company openly signaled it would rely less on patents and more on its unique database as a competitive strategy.3PubMed Central. MYRIAD AFTER MYRIAD: THE PROPRIETARY DATA DILEMMA Critics argued this was a monopoly by another name: instead of owning the gene, Myriad effectively owned the knowledge needed to interpret it. The open-science community responded by organizing data-sharing initiatives, and over subsequent years, public variant databases grew substantially, eroding some of Myriad’s interpretive advantage.
Did Gene Patents Actually Block Research?
One of the most heated claims during the Myriad litigation was that gene patents suppressed scientific research. Researchers testified that they had been warned away from studying BRCA genes, that they had received cease-and-desist letters, and that the patents chilled follow-on innovation in genetics. The intuition makes sense: if someone holds a patent on a gene, other scientists might avoid working on it for fear of infringement.
The empirical evidence on this question, however, turned out to be more nuanced than either side expected. A large-scale study examining the effect of gene patents on subsequent research found that patented genes tended to be more scientifically valuable than non-patented genes even before the patents were filed, suggesting that companies were selecting genes to patent partly based on their existing research interest. After accounting for this selection effect, the researchers found no meaningful reduction in follow-on innovation attributable to the patents themselves.4PubMed Central. How Do Patents Affect Follow-on Innovation? Evidence from the Human Genome This does not mean gene patents never deterred any individual researcher; anecdotal accounts of deterrence were real. But at the level of measurable research output across the entire genome, the patents did not appear to cause a broad decline.
That finding complicates the narrative on both sides. Patent opponents had pointed to suppressed research as a concrete harm, and the aggregate data did not strongly support it. Patent defenders had argued that patents were needed to incentivize the costly work of gene discovery, but the same study implied the most commercially interesting genes would have been studied anyway. The case for or against gene patents rested more heavily on questions of access, pricing, and patient welfare than on research incentives.
How the Ruling Shaped Diagnostic Patenting
The Myriad decision did not exist in a vacuum. A year earlier, the Supreme Court had issued another ruling, Mayo Collaborative Services v. Prometheus Laboratories, which restricted patents on diagnostic methods that merely observe natural correlations. Together, the two decisions created a tighter legal environment for molecular diagnostic patents. Companies filing for patents on genetic tests had to demonstrate something beyond simply identifying a natural relationship between a gene variant and a disease.
An empirical study of patent filings after these rulings found that molecular diagnostic patenting did not collapse. Applicants adapted, writing narrower and more carefully drafted claims. The total number of diagnostic patent applications and grants held relatively steady, though there was some evidence that small U.S.-based firms filed fewer applications relative to larger companies and international filers.5Journal of Empirical Legal Studies. Molecular Diagnostic Patenting After Mayo v. Prometheus: An Empirical Analysis The practical upshot was a recalibration rather than an end to diagnostic patenting. Patents became harder to get and narrower in scope, which arguably made them less likely to block competitors from working on the same biological targets through different methods.
For the diagnostics industry, this shift forced a change in strategy. Companies could no longer secure broad exclusivity over an entire gene or natural correlation. Instead, intellectual property protection gravitated toward specific engineered tools, software-based interpretation methods, proprietary databases, and novel laboratory processes. The patents that survived were more tightly focused, and the era of claiming ownership over a stretch of natural DNA as a composition of matter was over in the United States.
Gene Patents Around the World
The Myriad ruling was a U.S. decision, and gene patent law looks different elsewhere. In the European Union, naturally occurring genetic sequences remain patent eligible, provided the patent application discloses a specific industrial application for the sequence.6PubMed Central. Patentability of genes: a European Union perspective The EU Biotech Directive, adopted in 1998, explicitly permits patents on biological material isolated from its natural environment, including human gene sequences, as long as the applicant identifies a function. The legal reasoning in Europe centers on the technical steps required to isolate and characterize the gene, rather than on whether the gene exists in nature. This means that a patent claim that would fail in the United States after Myriad might succeed under European patent law, and vice versa.7European Journal of Human Genetics. Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law
Australia took a path more similar to the United States. In 2015, the High Court of Australia ruled in D’Arcy v. Myriad Genetics that an isolated nucleic acid coding for a BRCA1 protein is not a patentable invention under Australian law.8International Review of Intellectual Property and Competition Law. D’Arcy v. Myriad Genetics: A Demand for the “Made” or “Non-Information” and Clear Subject Matter? The Australian court reached a similar conclusion to the U.S. Supreme Court but through somewhat different legal reasoning rooted in Australian patent statute. Canada, meanwhile, has never had a definitive court ruling on gene patentability, though the Canadian Patent Office had issued gene patents for years following practices roughly analogous to the pre-Myriad U.S. approach.
These international divergences matter for companies operating across borders. A biotech firm developing a genetic test may face one intellectual property landscape in the United States, a different one in Europe, and yet another in the Asia-Pacific region. The lack of harmonization means that the question of who can own genetic information remains unsettled at a global level, even after the Myriad ruling provided a definitive answer within U.S. borders.
The Broader Question of Who Owns Genomic Data
The Myriad case was nominally about patent law, but it surfaced deeper tensions about ownership, access, and justice in genomics. Myriad’s proprietary database strategy illustrated that even without gene patents, a company can maintain control over the clinical meaning of genetic variation by hoarding data. This raised questions that patent law alone cannot answer. Should variant interpretation data be treated as a public resource? Should patients have a right to demand their raw genetic data be shared with public databases? Who benefits and who is excluded when genomic knowledge is concentrated in private hands?
These concerns intersect with broader debates about equity in genomic research. The vast majority of genomic studies have been conducted on populations of European descent, which means that variant databases, including Myriad’s, are most useful for those populations and least useful for people of African, Asian, Indigenous, or other underrepresented backgrounds. Expanding the interpretive power of genetic testing to all communities requires not just more data but engagement with different frameworks of ownership and consent. Indigenous scholars have pushed back against the assumption that the answer to genomic inequality is simply to include more diverse populations in existing research structures, arguing instead for models that respect Indigenous sovereignty over biological materials and the knowledge derived from them.9PubMed. Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty
The Myriad lawsuit opened a door. It settled the narrow legal question of whether you can patent a naturally occurring gene in the United States (you cannot). But the larger questions it exposed, about data ownership, equitable access, and the relationship between private profit and public health in genomics, remain contested. The genetic testing industry that emerged after 2013 is more competitive, more accessible, and faster-moving than the one that existed under Myriad’s monopoly. It is also an industry where new forms of informational control have replaced the old patent-based ones, and where the fight over who owns the meaning of your DNA continues under different terms.