Supreme Court Strikes Down Patenting of Human Genes

Can we patent human genes? After years of debate, the Supreme Court of the United States (SCOTUS) has ruled unanimously that the answer is “No.” The majority of Americans are simply unaware that approximately 25% of their genes have been patented by companies and research institutions over the last few decades by the U.S. Patent and Trademark Office. However, the SCOTUS’ decision has determined that your genes are not patentable.

There is a fine article about this in the June 13th edition of the Wall Street Journal.

The SCOTUS decision is a victory for scientists, physicians and patients who argued that such patents interfere with the practice of medicine, patient care and scientific research. In handing down its decision, SCOTUS has made one of the most significant rulings in this age of molecular medicine, since it ultimately decides who may own the fundamental building blocks of life.

In writing for the court, Justice Clarence Thomas, said the genes Myriad Genetics, Inc isolated are products of nature, which aren’t eligible for patents. Thomas penned, “Myriad did not create anything,” Justice Thomas wrote in an 18-page opinion. “To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.”

Justice Thomas and the court essentially followed the legal framework established by Solicitor General Donald Verrilli when he rejected the views of both the U.S. Patent and Trademark Office and the specialized tribunal that hears patent appeals, the U.S. Court of Appeals for the Federal Circuit.

Justice Thomas credited Myriad for a “medical breakthrough,” since they had identified, isolated, and characterized the BRCA1 and BRCA2 genes. These genes can predict if a woman has a 50% – 80% likelihood of breast cancer, in comparison to the average American woman’s 12% to 13% risk. However, Thomas opined that “”groundbreaking, innovative, or even brilliant discovery does not by itself satisfy” federal law’s requirements for a patent. To demonstrate his reasoning, Thomas made reference to a 1948 case, in which the court decided that a product that combined several different species of bacteria that were useful for improving soil-nitrogen levels was unpatentable because the bacteria themselves were naturally occurring.

Justice Thomas also wrote that “separating (a) gene from its surrounding genetic material is not an act of invention.” Thomas also rejected an argument put forward by the company seeking the patent, Myriad, that patenting BRCA1 and BRCA2 would promote innovation. Instead, Thomas and his colleagues thought that patenting these genes and other would stifle innovation and frustrate progress.

In a nutshell: even if a discovery is brilliant or groundbreaking, that doesn’t necessarily mean it’s patentable, according to SCOTUS.

Now what do I think? I think that this is probably good news for patients. Even though you are not aware of it, gene patenting has affected you. Once a company legally “owns” a human gene, they control who can conduct research on that gene and who can run tests on that gene. If you have a genetic disease and you need a genetic test to confirm that you have it, medical labs are limited on what genes they can offer tests for because of gene patents. This limits the range of services medical labs can offer to patients. Medical laboratories that offer particular genetic tests are only allowed to do so because they pay royalties to the companies that own the genes, and this jacks up the cost of those tests. Consequently, many labs do not offer genetic tests in order to spare themselves the cost, time, paperwork, lawyers’ fees, and hassles.

Gene patents also stifle research. You see once a company owns a patent on a gene, they sit on the patient and do not conduct any research on those genes. Gene patents also prevent other scientists from researching the gene as well. This ties the hands of medical geneticists who want to define the exact mechanisms by which particular mutations cause or contribute to specific genetic diseases. Since many diseases have a genetic component, gene patents get in the way of further research. Dr. Iris Schrijver, president of the Association for Molecular Pathology, which opposes gene patents, made this observation:

Because variation in gene sequences plays an important role in the development and progression of many diseases, through gene patents, patent holders can essentially gain ownership of the understanding of some diseases and of certain areas of patient care itself.

Fortunately, SCOTUS has put the kibosh on such occurrences. Now, we hope that there will be a new era of genetic research where our genes are not claimed by one company or another, and researchers are free to work on whatever gene they choose.

As a postscript, Justice Thomas did leave the door open for companies to patent synthetically made versions of genes.  This would allow companies the ability to patent creations of their own for further use and research and development.  As noted in the Wall Street Journal piece:

Still, a footnote gave Myriad little reason to cheer. Justice Thomas added that the court took no position on whether cDNA met the other requirements for a patent, such as being “nonobvious.” He referred to a brief filed by the Obama administration, which observed that “given the prevailing level of knowledge in biotechnological fields, future patent applications directed to cDNAs and other synthesized DNA molecules may be rejected as obvious.”

Myriad Genetics Hordes Breast Cancer Data

Kathleen Sloan the president of the National Organization of Women has a troubling article at the Center for Bioethics and Culture website. It tells the story of a biotechnology company called Myriad Genetics and it BRCA1 & 2 test.

What the heck is BRCA1 & 2?  BRCA stands for “breast cancer” and mutations in BRCA 1 or 2 predispose females to breast and ovarian cancer. Mutations in BRCA genes also increase the risk of colon, prostate and pancreatic cancer.  Approximately 7% of breast cancer and 11 – 15% of ovarian cancer cases are caused by mutations in the BRCA genes.  If someone carries a mutation in either BRCA 1 or 2, they have a syndrome called Hereditary Breast and Ovarian Cancer (HBOC) syndrome.

The BRCA genes encode proteins that help repair DNA when it is damaged. Even though BRCA 1 & 2 work with several other proteins to accomplish this repair, mutations in the BRCA genes that compromise the quality of the proteins they encode can diminish the ability of cells to repair their DNA. Loss of efficient DNA repair systems leads to greater numbers of mutations in cells, some of which cause either loss of tumor suppress genes that normally put the brakes of cell proliferation, or activation of proto-oncogenes, which encode proteins that promote cell proliferation. Loss of tumor suppressor genes and activation of proto-oncogenes produces a cancer cell, and mutations in BRCA 1 or 2 and accelerate the onset of cancer cell formation (this is a highly simplified explanation and I apologize to the aficionados out there, but I am trying put the cookies on a nice low shelf).

Myriad Genetics came along and developed a genetic test for cancer-causing mutations in BRCA 1 & 2. This is good news, but Myriad Genetics is presently with holding their data from patients. This is not good news. Myriad Genetics wants to generate a database of mutations found in BRCA 1 and 2 genes from women all over the world. Some of these mutations do not affect the function of the encoded protein and do not predispose the patient to breast cancer, but some do. Which ones are harmful and which ones are not?

At this point things get sticky. Myriad has complied its sequence data on BRCA in order to construct a “variants of unknown significance” or VUS. Such a compilation would be invaluable, since it would help physicians correctly interpret the results of a breast cancer test. According to its present data archive, Myriad Genetics claims that only 3% of its tests fall into the VUS unknown category. However, other testing services report a 20% VUS rate. Who’s right? hard to say, given that Myriad Genetics will not release its data. Apparently they feel that their data has commercial value.

The problem is that lots of outfits that provided data to Myriad Genetics free of charge in order for them to develop their test. These other outfits have all their data available on public databases. What about Myriad Genetics – nope.

According to Ms. Sloan, “Myriad Genetics, producer of the world’s biggest-selling gene test for breast and ovarian cancers, has become synonymous with corporate greed. In an egregious breach of bioethics, the company refuses to share groundbreaking knowledge that could benefit cancer patients.”

Myriad worked hard to develop this test – I do not think anyone is contesting that. Myriad Genetics has every right to make money off their test, but when they start hoarding potentially life-saving data, I think Ms. Sloan is right that they have crossed the line.

Myriad Genetics is also being sued because of their attempts to patent the BRCA genes. An impressive consortium of researchers, genetic counselors, women patients, cancer survivors, breast cancer and women’s health groups, and scientific associations representing 150,000 geneticists, pathologists and laboratory professionals are all plaintiffs in this lawsuit against the U.S. Patent Office, Myriad Genetics and the University of Utah Research Foundation, which hold the patents on the genes.

The lawsuit avers that patents on human genes violate the First Amendment because genes are “products of nature.” Therefore, such things cannot be patented. Such an argument has a strong intuitive appeal, and is almost certainly correct.

Read Ms. Sloan’s article here and see what you think.