Later today the blog will begin publishing an online symposium on the Supreme Court case testing whether human genes, taken out of the body and isolated in a laboratory, without change, can be given a patent. A roster of the contributors to the symposium is available here. The following post explains, in non-legal language, what is involved in that case (Association for Molecular Pathology v. Myriad Genetics, Inc., on the Court’s docket as 12-398).  The Court is expected to hold a hearing on it in April, and decide the case before the end of this Term in late June.

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Supreme Court Justices are lawyers, not scientists.  But, now and then, they have to decide how the law applies to scientific  or technological advances.   They will be doing that in a historic case that has broad implications for scientific research, but also for doctors’ treatment of some serious diseases or afflictions.   The outcome of the case may determine whether one research firm will have a monopoly over a new technique for diagnosing a patient’s risk of certain forms of cancer in women, or whether that field of study will be open to others, too.

At the center of this dispute is the human gene.  A gene is a segment or fragment of the basic DNA that exists in every human body.  Within the body, genes naturally produce proteins, and those do the work of the body.  But genes do vary from person to person, which is why DNA testing is such a useful tool for identifying an individual from that person’s genetic material.  The variation results from alterations or mutations in a gene’s chemical structure, and those can correlate with with certain diseases or disorders.  Obviously, then, a study of genes can help determine whether a specific patient is at risk of developing an ailment that is suggested by the mutated gene.

The case before the Supreme Court involves two genes that are known to have genetic mutations that suggest a much higher risk of cancer in women — particularly, breast cancer (an eighty-five-percent risk) and ovarian (a fifty-percent risk.).  Those genes have the technical labels of BRCA1 and BRCA2.  A doctor needs to know about the existence of mutations in these genes to provide clinical care for a woman whose genes show these mutations.

Pathologists, clinical lab scientists, and other medical professionals regularly conduct genetic testing in search of clinically significant alterations or mutations of genes.  Basic analytic methods involve isolating the gene — that is, extracting it physically from the body, and, without changing its chemical structure, examining whether it has mutations or other alterations.  The gene is removed from a human cell, and is randomly fragmented.  This process of isolation and fragmentation makes a patient’s genetic information simply more accessible for study in laboratories or by medical professionals.

Myriad Genetics, Inc., is a research firm in Salt Lake City that engages in this form of genetic interpretation.   In association with the University of Utah Research Foundation, Myriad has obtained from the U.S. Patent Office patents on “isolated” forms of the two genes at issue.   Myriad isolates the genes by taking a blood sample, fragmenting the extracted genes, and then looking for mutations or other variants.  This leads to a clinical report for a patient, to inform her whether or not her genes dispose her to potential cancer risks.

Turning, then, from science to law, one finds the federal Patent Act.  The Constitution itself gives Congress the authority to pass such a law.  The idea is that, by giving inventors a right — for a specific period of time — to be the only one to make and use their invention, the law encourages creativity and technological advances.  Congress quickly used this grant of power in 1790 — one year after the national government was formed.  It replaced a hodgepodge of state laws that were an inheritance from the colonies’ English forebears.

The Patent Act permits the federal government to grant such a monopoly to an inventor for “any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement” of any of those inventions.

The dispute over human gene patenting focuses on the phrase, “composition of matter.”  In a decision in 1980, the Supreme Court made clear that an inventor seeking a patent for a new idea dealing with “composition of matter” cannot get that patent if the idea is no more than an application of the laws of nature or natural phenomena.  The patent law, the Court said there, draws a clear distinction between nature and human invention.

Under Myriad’s two patents on BCRA1 and BRCA2 genes, it made fifteen separate claims about the isolation of those genes. The scope of an inventor’s monopoly rights is determined by the claims that are made in obtaining the patent.  Myriad’s patents claim exclusive control over genes once they have been removed from the body and from human cells.

Those claims, however, have been under challenge in federal court under a lawsuit that has been unfolding over the past four years.   The lawsuit was filed by four national organizations of doctors, researchers, clinicians, and other health professionals, along with six leading geneticists, two genetic counselors, two women’s health and breast cancer organizations, and six patients who have been diagnosed with or are at risk of a hereditary version of breast or ovarian cancer.   The challengers claim that Myriad’s claims are no more than an attempt to get a monopoly over natural phenomena, since the isolated genes are in no way altered from their characteristics when in the body.

The challengers also contend that Myriad’s claims are so broad that they include “every single natural variation of the [two] genes. including those that have not yet been isolated.’   The lawsuit also complained that Myriad had used its patent protection to prohbit standard clinical testing on those two genes, to “inhibit scientific research” on them, and to bar patients from accessing their own genetic information.

Myriad has defended its patents with the argument that the process of isolating the DNA molecules in the DNA embodied in the two genes is a “product of human ingenuity” that is unique, with a distinctive name, character, and use.  Moreover, it has argued, the U.S. Patent Office has been issuing similar patents on such isolated molecular analytic techniques since 1984.

Myriad’s patents have been upheld twice by the specialized federal appeals court that handles patent cases in the lower federal judiciary — the U.S.Court of Appeals for the Federal Circuit.   The challengers to Myriad had taken the case to the Supreme Court once before, after the first Federal Circuit decision in Myriad’s favor, but the Justices sent it back to the appeals court for a new look.   Once again, the appeals court upheld the patents, and the challengers then returned once more to the Supreme Court.   The Court agreed last November 30 to decide whether human genes are eligible for patenting, or whether they are merely nature’s creation.

Posted in Association for Molecular Pathology v. Myriad Genetics, Analysis, Featured, Gene Patenting Symposium, Merits Cases, Plain English / Cases Made Simple

Recommended Citation: Lyle Denniston, The human genes case: Made simple, SCOTUSblog (Feb. 4, 2013, 9:34 AM), http://www.scotusblog.com/2013/02/the-human-genes-case-made-simple/