Myriad Genetics — Isolated Human Genes Are Not Patentable; Synthetic cDNA Is

Background

Myriad Genetics discovered the precise location and sequence of two genes — BRCA1 and BRCA2 — mutations in which dramatically increase a person’s risk of developing breast and ovarian cancer. Myriad obtained multiple patents claiming the isolated DNA sequences of both genes, as well as synthetic complementary DNA (cDNA) versions, and used those patents to establish a near-monopoly on BRCA genetic testing in the United States.

The Association for Molecular Pathology, along with medical researchers and patients, sued to invalidate Myriad’s gene patents. They argued that DNA sequences are products of nature and cannot be patented simply because a company identified and isolated them. Myriad countered that the isolation process created molecules that do not exist in that form in the human body, making them patentable. The Federal Circuit upheld Myriad’s patents. The Supreme Court granted certiorari.

The Court’s Holding

Justice Thomas, writing for a unanimous Court on the core holding, held that naturally occurring DNA segments are products of nature and are not patent-eligible merely because they have been isolated from the surrounding genetic material. Myriad did not create anything new by identifying and extracting the BRCA1 and BRCA2 sequences — the sequences existed in nature before Myriad discovered them. Isolation does not change the fundamental character of a product of nature.

However, the Court drew a crucial distinction for cDNA — a synthetically constructed DNA sequence made in a lab from messenger RNA that omits the non-coding intron sequences present in natural genomic DNA. Because cDNA is not found in nature (it is created by the lab process), it is patent-eligible. The Court emphasized that its ruling did not affect patents on applications of the genetic knowledge, on methods of analyzing or altering genes, or on synthetic molecules that differ from naturally occurring sequences.

Key Takeaways

• Naturally occurring DNA sequences (isolated genes) are products of nature and are not patent-eligible under §101, regardless of the difficulty of isolating them.
• Complementary DNA (cDNA) is patent-eligible because it is a synthetic creation — it does not exist in that form in nature.
• The discovery of a naturally occurring substance does not, by itself, entitle the discoverer to a patent on that substance.
• Patents on methods of using genetic sequences, on altered DNA molecules, or on other applications of genetic knowledge remain potentially valid.

Why It Matters

Myriad fundamentally reshaped the landscape of genetic testing and biotechnology. By invalidating Myriad’s patents on the BRCA1 and BRCA2 gene sequences, the Court immediately opened the market to competing genetic tests. Within weeks of the decision, multiple companies — including academic medical centers — began offering BRCA testing at lower prices, expanding access for patients making difficult decisions about cancer screening and prevention.

More broadly, the decision drew a line between discovery and invention in biology. Scientists who identify naturally occurring sequences, proteins, or molecules cannot patent them just for finding them — but companies that engineer synthetic molecules, develop novel applications, or create genuinely new materials can still receive patent protection. This distinction continues to shape biotech patent strategy, pharmaceutical research, and personalized medicine development.