Background
Myriad Genetics held patents on the BRCA1 and BRCA2 genes — specific DNA sequences in which certain mutations dramatically increase a woman’s risk of developing hereditary breast and ovarian cancer. Myriad had invested heavily in identifying these genes and developed the BRCAAnalysis® test to screen patients for cancer-risk mutations. Myriad’s patents covered: (1) isolated DNA sequences encoding the BRCA1 and BRCA2 genes; (2) cDNA (complementary DNA) molecules derived from the mRNA transcripts of those genes; and (3) methods of comparing or analyzing a patient’s BRCA sequences to detect cancer-associated mutations.
A broad coalition of medical associations, genetic counselors, patients, and researchers filed suit in the Southern District of New York challenging the patents as directed to unpatentable products of nature and laws of nature. The district court invalidated all challenged claims. Myriad appealed.
The Court’s Holding
The Federal Circuit reversed in part and affirmed in part in a highly fractured opinion with each of the three judges writing separately. The majority concluded that isolated DNA sequences were patent-eligible: although the sequence information in isolated DNA is the same as in native chromosomal DNA, the act of isolation creates a new chemical entity — a molecule separated from its natural context with distinct chemical properties. Isolation is not merely purification of a naturally occurring substance; it involves breaking chemical bonds and creating a molecule that does not exist in that form in nature.
On cDNA: the court was more uniform — cDNA, synthesized from mRNA templates and lacking the non-coding intron sequences present in genomic DNA, is a man-made molecule that does not exist in nature and is patent-eligible. On the comparison and analysis method claims: the court largely agreed these were not patent-eligible because they claimed nothing more than the abstract mental process of comparing two sequences — no transformative physical step was required.
Key Takeaways
- The Federal Circuit’s 2011 ruling held isolated DNA patent-eligible based on the structural distinction between isolated and native chromosomal DNA — a position the Supreme Court later rejected in AMP v. Myriad (2013), which held that naturally occurring DNA sequences are products of nature regardless of isolation.
- cDNA molecules remain patent-eligible because they are human-made molecules with a different sequence than naturally occurring genomic DNA — the Supreme Court affirmed this in 2013.
- Method claims that do no more than instruct a practitioner to “compare” or “analyze” sequences are not patent-eligible — they claim abstract mental processes with no transformative physical steps.
- The case sparked intense public debate about the appropriateness of gene patents and their effect on patient access to genetic testing, ultimately leading to the Supreme Court’s landmark 2013 ruling and the rapid growth of BRCA testing competition after Myriad’s composition claims were invalidated.
Why It Matters
The Myriad gene patent litigation was one of the most publicly prominent patent cases of the decade, raising fundamental questions about who can own the building blocks of life and whether gene patents impede access to medical care. Myriad’s monopoly on BRCA testing meant that patients wishing to assess their hereditary cancer risk had only one testing option at prices that many found prohibitive, and physicians could not offer confirmatory second opinions.
The Federal Circuit’s 2011 ruling, though subsequently partially reversed, shaped the final terrain on which the Supreme Court issued its 2013 AMP v. Myriad decision — one of the most significant § 101 rulings in the history of biotechnology patent law. After the Supreme Court struck down isolated natural DNA claims, BRCA testing rapidly expanded as multiple competitors entered the market, dramatically reducing the cost of testing and expanding access. The case remains the touchstone for the ongoing debate over patent eligibility for natural biological substances and diagnostic methods.