From the BRCA gene controversy to the future of biotechnology innovation
Imagine being told that a company owned exclusive rights to a part of your very body—a gene that could determine your cancer risk. For nearly two decades, this was reality for women seeking testing for hereditary breast and ovarian cancer. The BRCA1 and BRCA2 genes, vital pieces of our genetic blueprint, were privately owned through U.S. patents, restricting testing and driving up costs. This situation sparked one of the most significant legal battles in modern biotechnology, culminating in a landmark Supreme Court decision that would reshape the boundaries of intellectual property and genetic science 4 .
The story of patenting genomic objects stretches far beyond single genes to encompass entire genomes, functional applications, and the very information that makes us who we are.
It's a tale that intersects law, ethics, commerce, and science, raising fundamental questions about whether products of nature can be owned and how society should balance innovation incentives against scientific access. As we delve into this complex world, we'll explore how patents work in genomics, the dramatic court cases that redefined the landscape, and what the future holds for this rapidly evolving field at the intersection of human biology and intellectual property.
A gene patent represents exclusive rights granted by a government to an individual, organization, or corporation claiming to have first identified a specific DNA sequence 9 . For 20 years from the patent date, the patent holder controls how that gene can be used—both in commercial applications like genetic testing and in non-commercial research settings. This system aims to reward innovation by providing temporary monopoly rights in exchange for public disclosure of the invention.
For any genomic invention to be patented, it must meet three fundamental criteria:
Historically, the United States granted far more DNA-sequence-based patents than other major biotechnology markets like Japan and Europe, and allowed generally broader claims 1 .
The rationale behind granting these patents is instrumental—governments provide temporary exclusive rights to "promote the progress of science and useful arts" by incentivizing the substantial investments required for biotechnology research and development 1 4 .
The controversy over gene patents reached its climax in the landmark case Association for Molecular Pathology v. Myriad Genetics, Inc., which progressed through multiple judicial levels over several years:
Myriad Genetics, holding patents on the isolated BRCA1 and BRCA2 genes, enforced its exclusive rights by sending cease-and-desist letters to other labs and researchers it believed were infringing its intellectual property 4 .
In 2009, the Association of Molecular Pathologists, the American Civil Liberties Union, and a coalition of other groups filed a lawsuit challenging both the constitutionality and validity of the BRCA gene patents 4 .
The case moved through three courts with varying outcomes before reaching the Supreme Court for a final decision 4 .
On June 13, 2013, the Supreme Court delivered a unanimous decision that would reshape the biotech industry. The Court ruled that:
This decision immediately invalidated approximately 4,300 human gene patents that had been granted in the United States, making these genes accessible for research and commercial genetic testing 9 .
| Date | Event | Significance |
|---|---|---|
| 2009 | Lawsuit filed by AMP and ACLU | Challenged constitutionality of gene patents |
| March 2010 | District Court rules against Myriad | First court to invalidate gene patents |
| July 2011 | Federal Circuit reverses District Court | Upheld isolated DNA patents 2-1 |
| March 2012 | Supreme Court remands case | Asked for reconsideration after another ruling |
| August 2012 | Federal Circuit reaffirms | Again upheld Myriad's patents |
| June 2013 | Supreme Court unanimous decision | Isolated natural genes not patentable |
Despite the Supreme Court's ruling on natural genes, many genomic inventions remain eligible for patent protection. The post-Myriad landscape has created nuanced boundaries between what is and isn't patentable in genomics.
DNA sequences that have been significantly modified by human intervention remain patent-eligible, including novel gene constructs and synthetic biological systems 9 .
Several patents have been granted covering the complete genome sequences of prokaryotes and viruses, arguing that having the entire sequence enables new utilities 6 .
| Patentable | Not Patentable |
|---|---|
| cDNA | Isolated human genes in their natural form |
| Genetically modified organisms | Products of nature |
| Methods for genetic testing | Laws of nature |
| Research tools and instruments | Abstract ideas |
| Whole genomes of engineered microorganisms | Naturally occurring organisms |
Modern genomic research relies on sophisticated tools and methods, many of which represent patentable innovations themselves. Here are some key research reagent solutions essential to advancing genomic science:
Function: Precise gene editing; functional genomics
Example Innovations: High-throughput screens, base editing, prime editing 8
Function: High-throughput DNA/RNA sequencing
Example Innovations: Illumina's NovaSeq X, Oxford Nanopore technologies 8
Function: Detection of genomic variations without amplification
Example Innovations: Multiplexed detection of multiple templates 2
Function: Chromosomal mapping and gene location
Example Innovations: Improved hybridization solutions for faster results 3
Function: Identifying genetic variations linked to disease
Example Innovations: Methods for determining SNP haplotype blocks and patterns 5
Function: Analyzing massive genomic datasets
Example Innovations: AI tools like DeepVariant for variant calling 8
As genomic technologies continue to advance, new patent challenges and opportunities emerge. Several areas represent the next frontiers in the ongoing dialogue around genomic intellectual property:
The integration of artificial intelligence with genomic analysis creates novel patent questions. AI tools for variant calling, disease risk prediction, and drug discovery are becoming increasingly patentable, while simultaneously raising questions about inventions generated through machine learning algorithms 8 .
The European Union is currently grappling with whether to implement a patent ban on plants produced by New Genomic Techniques (NGTs). This debate highlights the ongoing tension between encouraging innovation and ensuring access to genetic resources 7 .
While human genes can no longer be patented, whole-genome patents for microorganisms continue to be granted. These patents represent a shift toward treating the genome as an information base rather than just a collection of chemical molecules 6 .
Different jurisdictions maintain divergent approaches to genomic patenting. While the U.S. has prohibited natural gene patents, other countries like Australia allow broader patent protection for plants, creating a complex international patent landscape 7 .
The story of patenting genomic objects reflects an ongoing struggle to balance competing values: encouraging innovation through intellectual property protection while ensuring that the fundamental building blocks of life remain accessible for research and clinical care.
The dramatic shift brought by the Supreme Court's Myriad decision demonstrates that patent law, like science itself, continues to evolve in response to new understandings and technologies.
As we stand at the frontier of increasingly sophisticated genomic technologies—from CRISPR gene editing to whole-genome synthesis—the question of what genomic objects can and should be patented will remain both scientifically and socially significant. The resolution of these questions will shape not only the future of biomedical innovation but also determine who has access to the benefits of genomic medicine—ultimately defining the relationship between human ingenuity and our shared genetic heritage.