WASHINGTON, June 16 (UPI) -- The U.S. Supreme Court last week dealt a devastating blow to the genetics industry -- or opened up new vistas depending on the point of view -- by ruling unanimously naturally occurring DNA segments could not be patented.
However, the opinion written by Justice Clarence Thomas said cDNA, called complementary or synthetic DNA, "is patent eligible because it is not naturally occurring."
Besides causing a revolution in the genetics industry, the decision affects the healthcare of millions, and the billions in profits such patents bring. An estimated 40 percent of human DNA is patented, and the U.S. Patent and Trademark Office has awarded patents on human genes for more than 30 years.
DNA segments, of course, are the building blocks of life, or in some cases, the building blocks of death.
The underlying case that brought last week's ruling involves Myriad Genetics of Salt Lake City, which holds patents for isolated DNA covering gene mutations BRCA1 and BRCA2. When present, the mutations indicate an increased risk of developing breast and ovarian cancer. The patents also cover ways of isolating the genes to test for the presence of the mutation.
Women with BRCA1 and BRCA2 mutations face as much as an 85 percent cumulative risk of breast cancer as well as an up to 50 percent cumulative risk of ovarian cancer.
DNA, or deoxyribonucleic acid, contains the genetic instructions -- or information -- that determine the development of living organisms.
Critics complained Myriad's diagnostic analysis makes it impossible for women to confirm their test results elsewhere while others cannot afford the $3,000 cost of Myriad's test. If insurance covers the procedure -- not always the case -- it brings the cost down to $100.
A coalition of healthcare professionals, patients and the American Civil Liberties Union filed suit in New York in 2009, saying such patents restrict science and make it difficult for women to get crucial medical care.
The Supreme Court's ruling reverses a ruling in favor of Myriad by the U.S. Court of Appeals for the Federal Circuit in Washington.
Thomas' opinion devotes many paragraphs to scientific explanations of DNA, but the justice was precise in what the ruling meant.
Myriad Genetics Inc. "discovered the precise location and sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer," Thomas wrote. "Myriad obtained a number of patents based upon its discovery. This case ... requires us to resolve whether a naturally occurring segment of deoxyribonucleic acid [DNA] is patent eligible under [the federal patent code] by virtue of its isolation from the rest of the human genome. We also address the patent eligibility of synthetically created DNA known as complementary DNA [cDNA], which contains the same protein-coding information found in a segment of natural DNA but omits portions within the DNA segment that do not code for proteins. ... [W]e hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring."
Though he was delivering bad news to the company, Thomas also acknowledged the work that Myriad has done.
"The average American woman has a 12- to 13-percent risk of developing breast cancer, but for women with certain genetic mutations, the risk can range between 50 and 80 percent for breast cancer and between 20 and 50 percent for ovarian cancer. Before Myriad's discovery of the BRCA1 and BRCA2 genes, scientists knew that heredity played a role in establishing a woman's risk of developing breast and ovarian cancer, but they did not know which genes were associated with those cancers.
"Myriad identified the exact location of the BRCA1 and BRCA2 genes on chromosomes 17 and 13," he wrote.
"Knowledge of the location of the BRCA1 and BRCA2 genes allowed Myriad to determine their typical nucleotide sequence. That information, in turn, enabled Myriad to develop medical tests that are useful for detecting mutations in a patient's BRCA1 and BRCA2 genes and thereby assessing whether the patient has an increased risk of cancer."
Myriad had filed patent infringement suits against other entities that performed BRCA testing, causing those entities to desist.
Section 101 of the Patent Act provides that a patent is allowed whenever someone "invents or discovers any new and useful ... composition of matter, or any new and useful improvement," Thomas explained.
But, citing precedent, he wrote, "We have 'long held that this provision contains an important implicit exception'" that is, "Laws of nature, natural phenomena and abstract ideas are not patentable.'"
Seven justices signed on to Thomas' opinion. Justice Antonin Scalia wrote a separate opinion, saying he could not confirm the science in Thomas' opinion, but agreed with the judgment.
The ACLU, which provided lawyers for the challenge, and Myriad both claimed victory immediately after the Supreme Court decision.
"The U.S. Supreme Court today unanimously invalidated patents on two genes associated with hereditary breast and ovarian cancer in response to a lawsuit filed by the American Civil Liberties Union and the Public Patent Foundation," the ACLU said, "on behalf of researchers, genetic counselors, patients, breast cancer and women's health groups, and medical professional associations representing 150,000 geneticists, pathologists, and laboratory professionals."
"Today, the court struck down a major barrier to patient care and medical innovation," Sandra Park, senior staff attorney with the ACLU Women's Rights Project, said in the statement. "Myriad did not invent the BRCA genes and should not control them. Because of this ruling, patients will have greater access to genetic testing and scientists can engage in research on these genes without fear of being sued."
The ACLU statement said: "The restrictions on examining the BRCA genes can have devastating results. Kathleen Maxian of Buffalo, N.Y., is suffering from late-stage ovarian cancer that she believes could have been prevented. Her sister, who is a breast cancer survivor, obtained a test from Myriad that did not look for all known genetic mutations associated with cancer and was told she was negative for mutations. Years later, her sister learned that she did, in fact, have a BRCA genetic mutation -- information that Maxian could have relied on to seek preventive surgery. Numerous labs across the country have stated that they are capable of providing this comprehensive screening and would do so were it not for Myriad's patents.
"Lisbeth Ceriani, a breast cancer survivor and plaintiff in the case, was faced with having to pay over $4,000 for Myriad's testing to determine if she carried a genetic mutation associated with hereditary ovarian cancer because Myriad had refused to enter into a contract with her insurance company," the ACLU statement said. "She was forced to wait 18 months before she was able to obtain the test through a grant, at which point she learned she did indeed carry a mutation."
"I'm relieved that no other women will have to go through what I went through," Ceriani said. "I'm so glad that the Supreme Court agrees that women deserve full access to vital information from their own bodies."
Myriad Genetics Inc. issued its own statement from Salt Lake City.
The statement concentrated on the positive, saying, the Supreme Court upheld the company's "patent claims on complementary DNA, or cDNA. However, the Court ruled that five of Myriad's claims covering isolated DNA were not patent eligible."
But, "Following today's decision, Myriad has more than 500 valid and enforceable claims in 24 different patents conferring strong patent protection for its BRACAnalysis test.
"Importantly, the court noted that many of Myriad's unchallenged claims are method claims applying knowledge about the BRCA 1 and BRCA 2 genes," the company statement said. "While these method claims were not at issue in this case, the court highlighted Federal Circuit Judge [William] Bryson's opinion that, "[a]s the first party with knowledge of the [BRCA1 and BRCA2] sequences, Myriad was in an excellent position to claim applications to that knowledge."
"We believe the court appropriately upheld our claims on cDNA, and underscored the patent eligibility of our method claims, ensuring strong intellectual property protection for our BRACAnalysis test moving forward," said Peter D. Meldrum, Myriad president and chief executive officer. "More than 250,000 patients rely upon our BRACAnalysis test annually, and we remain focused on saving and improving peoples' lives and lowering overall healthcare costs.
"We are collaborating with the medical and scientific communities to improve patient access to genetic testing and facilitate research worldwide," Meldrum said. "Already, more than 10,000 scientific papers have been published on the BRCA genes, ranking them among the most researched genes in history. We are committed to advancing scientific knowledge even further, and Myriad will continue to encourage and support academic research studies conducted on the BRCA genes. While we are confident that Myriad offers the highest quality genetic tests in the world, we also support patients' rights to seek second opinion tests from any of the many laboratories conducting BRCA testing for the purpose of confirming the Myriad test result."
The Wall Street Journal said Myriad had reason for its optimism, despite the Supreme Court decision. The value of Myriad stock rose 8 percent on the morning the decision came down.