Intellectual property rights, such as patents, offer legal protection for inventions and discoveries, encouraging innovation by granting exclusive rights to creators. This system applies to novel and useful creations, allowing inventors to control their work. However, the unique nature of genetic material, the fundamental building blocks of life, introduced complexities when it became the subject of patenting efforts. This sparked considerable debate regarding the ethical, legal, and practical implications of owning parts of the human genome, questioning whether naturally occurring biological information could truly be “invented” and patented.
Defining Gene Patents
A “gene patent” historically referred to intellectual property rights granted over isolated DNA sequences, distinct from DNA as it exists naturally within a living organism. When DNA was extracted and purified, or a complementary DNA (cDNA) molecule synthesized, it was considered a distinct chemical entity potentially meeting patentability criteria. Early patents covered these isolated sequences and their uses, such as in diagnostic tests for specific genetic conditions.
The distinction between discovery and invention was central. Naturally occurring DNA sequences were considered discoveries. However, isolating or synthesizing them involved human intervention and technical processes, making them eligible for patent protection. Complementary DNA (cDNA), a synthetic DNA copy made from messenger RNA (mRNA) that lacks non-coding regions, was also deemed patentable because it does not occur naturally in this form. These patents often covered the isolated gene sequences themselves, specific diagnostic tests based on those genes, and methods for their analysis.
The Legal Evolution of Gene Patents
The legal landscape of gene patents underwent a significant transformation, culminating in the landmark U.S. Supreme Court case, Association for Molecular Pathology v. Myriad Genetics in 2013. Before this decision, the U.S. Patent and Trademark Office (USPTO) had granted thousands of patents on human genes, including the BRCA1 and BRCA2 genes, associated with increased risks of breast and ovarian cancer. Myriad Genetics held patents on these genes, controlling diagnostic testing for their mutations.
The Supreme Court unanimously ruled that naturally occurring DNA segments, even when isolated, are products of nature and not patent-eligible. This decision invalidated patents on isolated genomic DNA sequences, fundamentally changing what could be patented in genetics. However, the Court maintained that complementary DNA (cDNA) remains patentable because it is synthetically created in a laboratory and does not occur naturally in that form.
Consequences for Research and Healthcare
The Myriad decision significantly altered the landscape for scientific research and healthcare, particularly regarding genetic testing and patient access. Historically, gene patents, like those held by Myriad Genetics for BRCA1/2, granted exclusive rights that led to monopolies on genetic tests. This often resulted in high costs and limited competition, which could hinder patient access to diagnostic services.
The invalidation of patents on naturally occurring DNA by the Myriad ruling removed a major barrier to innovation and competition in genetic testing. Following the decision, multiple laboratories began offering BRCA testing, some at lower prices and with more comprehensive analyses, fostering increased availability and accessibility of these tests. For instance, the rate of women receiving BRCA testing increased from 34 per 100,000 in 2007 to 488 per 100,000 in 2016. The ruling also cleared the path for researchers to study previously patented genes without fear of infringement, promoting the development of new diagnostic methods and therapies for various genetic conditions, including cancer, muscular dystrophy, and Alzheimer’s disease.