Who Owns Your DNA? SCOTUS To Rule On Gene Patents

In 1987, the U.S. Department of Energy proposed funding for an ambitious project to sequence (put in order) every chemical basepair that makes up DNA in a human cell. The assumption was that ~20,000 human genes would be physically located and identified, allowing study of their functions and roles in disease.

The proposed project was included in President Reagan’s budget, which passed both houses of Congress. By 1990, NIH and DOE were co-organizing the 15-year effort. They termed it the Human Genome Project (HGP), a study that coordinated efforts of scientists in the U.S. and around the world. The data were to be made available in public databases — DNA sequence of the people, for the people.

Fast forward to 2003. The complete sequence of the human genome was announced, even earlier than expected. It was a major achievement for science and a solid return on investment of taxpayer money.

During the 13 year period of the HGP, scientists discovered numerous genes. Two of them were BRCA1 and BRCA2, genes associated with breast cancer. Several groups raced to identify these genes, but it was Mark Skolnick at Myriad Genetics and his collaborators at University of Utah and NIEHS who ultimately cloned BRCA1 in 1994.

Skolnick and Myriad immediately submitted patents for BRCA1 and BRCA2. They then developed diagnostic tests to detect mutations in BRCA1 and BRCA2 linked to increased risk of breast and ovarian cancers. Because of the patents, only Myriad was free to perform the genetic test. With a price tag of $4,000, they effectively created a monopoly on the test.

Then in 2010, Judge Robert Sweet of the U.S. District Court for the Southern District of New York ruled in the case of Association of Molecular Pathology v USPTO that the BRCA1 and BRCA2 gene patents were invalid.

Myriad fought back. In 2012, a panel of federal judges from the U.S. Federal Court of Appeals overturned the Sweet ruling by a 2-1 vote, citing that BRCA1 and BRCA2 were not natural DNA that is considered a law of nature and therefore unpatentable. The judges — who I think missed the mark on biology — stated:

“According to Myriad, isolated DNA does not exist in nature, and isolated DNA, unlike native DNAs, can be used as primers and probes for diagnosing cancer…Native DNA exists in the body as one of forty-six large contiguous DNA molecules…Isolated DNA, in contrast, is a free-standing portion of a native DNA molecule, frequently a single gene….Accordingly, BRCA1 and BRCA2 in their isolated state are not the same molecules as DNA as it exists in the body.”

However, the dissenting judge got it right:

“Patents are for inventions. A human gene is not an invention. The essence of Myriad’s argument in this case is to say that it has not patented a human gene, but something quite different – an isolated human gene.”

Now it’s 2013, and the case has traveled to our country’s highest court of law. ACLU and the Public Patent Foundation filed a Writ of Certiorari in 2012, asking the Supreme Court to reconsider the Court of Appeals ruling. In April, the Supreme Court heard oral arguments and is expected to issue a ruling in June, specifically on whether genes are patentable subject matter.

Based on the judges’ questions and remarks during arguments, it seems they are hung up on the “isolated” versus “natural state” distinctions for BRCA1 and BRCA2. Overall, they appeared skeptical of patenting genes, but seemed to accept that copying isolated DNA in the laboratory is actually an invention.

That is the worrying part.

Clearly, the judges are lawyers, not scientists. Their comments reveal a lack of understanding of basic molecular biology, as well as the persuasive, but misleading, way in which the science was presented to them.

As a scientist myself, I think the key points are:

  • Human genes are not inventions, and thus not patentable. We are born with our DNA. No human being invented our genes. Myriad did not invent BRCA1 and BRCA2. Humans are 99.9% identical in DNA sequence, meaning that my BRCA1 gene looks like the BRCA1 that Myriad patented, even though they did not clone it from my cells. It is ridiculous that I must get permission, pay a fee, or not be allowed to look at my own BRCA1 and BRCA2 genes. My genes are mine, your genes are yours. Companies should not own all or parts of anyone’s DNA.
  • Isolated DNA is captured; it is not invented, and thus is not patentable. Myriad’s argument is that isolated DNA is synthetic, separated from the continuous DNA sequence in the cell. Myriad claims BRCA1 and BRCA2 are not natural, since they isolated and copied them using laboratory methods. This argument is misleading. Right now, it is not possible for anyone to sequence DNA while it is in a cell. It is always removed from the cell and copied before sequencing. Even at this very minute, within all of us, cellular machinery is copying our DNA, stitching broken pieces back together, and turning isolated DNA into proteins. Thus, isolated DNA even exists naturally in our cells. It is not an invention.

What is the expected impact of the Supreme Court’s decision? A ruling against Myriad will allow other companies to offer BRCA1 and BRCA2 testing, and it will permit more biomedical research to be done on the two genes. The ruling will likely have implications for ~5,000 patents on other human genes and thousands of patented genes from other organisms used in various industries, like agriculture.

A silver lining amidst the controversy is the emergence of new technologies.

These days, anyone can have his/her entire genome sequenced – all 3 billion basepairs – for less than $4000. If the court rules in favor of the Myriad patents, at-risk women may choose the cheaper option of having all their DNA sequence analyzed, as opposed to tests focused on a few genes like the Myriad BRCA1/2 assay. If so, such new whole-genome approaches may relegate patenting of human genes to the past.