Supreme Court Rules That Human Genes Can’t Be Patented

The scientific community at UC San Francisco is reacting positively to the Supreme Court’s unanimous ruling on Thursday that human genes cannot be patented.

“This is great news for patient care,” says Beth Crawford, MS, a genetic counselor and director of genetic counseling for the Cancer Risk Program at the UCSF Helen Diller Family Comprehensive Cancer Center. “It will provide patients with greater access to genetic testing and will decrease the cost over time for the tests. Across the board, genetic medicine will move forward to advance scientific and clinical research.”

Adds Julie Mak, MS, also a genetic counselor for the Cancer Risk Program, "Our community is enormously excited to learn that the Supreme Court of the United States has ruled against the patenting of human genes. We agree that this is appropriate, as genes are naturally occurring and not the creation of any individual or company."

Until now, if a woman in the United States wanted to get tested to see whether she carried a potentially deadly mutation for two breast cancer genes – BRCA1 and BRCA2 – she had to go through a company that had found the precise location of the genes and patented its discovery.

The company, Utah-based Myriad Genetics, Inc., was sued over its claim of patents relating to BRCA1 and BRCA2, whose mutations are linked to increased hereditary risk for breast and ovarian cancer.

Myriad Genetics angered many in the genetic research community by guarding tightly the results of the thousands of tests that have been performed since Myriad launched the BRACAnalysis test in 1996, and with those, critical data on which mutations are significant for people of diverse backgrounds. Those critics include UCSF geneticist Robert Nussbaum, MD, who argued that the genetic information should be in the public domain to help advance scientific discovery.

Nussbaum, chief of the Division of Genomic Medicine at UCSF, started a grass-roots project,Sharing Clinical Reports, to make the vast amount of data gleaned from Myriad available to the research community.

“My real focus is on delivering medical care,” Nussbaum, who was in clinic Thursday and unavailable to comment, told KQED’s “On the Media” in an interview last month. “Suppose every radiology department in the country took X-rays, interpreted their results and kept it private to themselves. … How much progress would have been made in interpreting CAT scans or MRI scans under that circumstance? I see that as very analogous.”

The Supreme Court on Thursday ruled that “naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” Justice Clarence Thomas wrote in the majority opinion.

The ruling is seen as somewhat of a split decision since all nine justices said while the naturally occurring, isolated biological material itself is not patentable, a synthetic version of the gene material may be patented.

The genes at issue – BRCA1 and BRCA2 – recently made national headlines when actress Angelina Jolie got a double mastectomy after testing for mutations and discovering that she had an elevated risk of developing breast and ovarian cancer. But the test – which can cost about $3,000 – was too expensive for many women to take.

Already on Thursday, competitors to Myriad Genetics were getting ready to offer the tests, which is expected to drive down pricing.

"The decision represents a victory for all those eagerly awaiting more individualized, gene-based approaches to medical care,” said Francis Collins, MD, PhD, director of the National Institutes of Health (NIH). "The right to control exclusively the use of a patient’s genes could have made it more difficult to access new tests and treatments that rely on novel technologies that can quickly determine the sequence of any of the estimated 20,000 genes in the human genome. Such approaches form the cornerstone of the rapidly emerging field of personalized medicine, in which diagnostic, therapeutic, and preventive strategies can be tailored to each person’s unique genetic makeup."

Continuing Dialogue on Commercialization of Genetic Material

Daniel Dohan, PhD, associate professor of Health Policy and Social Medicine in the Philip R. Lee Institute for Health Policy Studies (IHPS), says the ruling returns sound reasoning on patenting genetic material.

 “The law in this area has seemed more and more untenable for a number of years and the court’s ruling in this case returns the issue to a more reasoned discussion. Genes have been around for billions of years; the notion that we can patent them was incongruous."

From a policy standpoint, Dohan said the ruling leaves open questions about whether it will spark useful market competition.

“The whole point is to get discoveries out of the lab and to conduct that translational research that will benefit patients,” Dohan said.

He questioned whether over the long term, companies will want to invest will in basic research on the genetic underpinnings of disease. If incentives on earning patent income are removed or restricted, it may have a chilling effect on industry-academic partnerships.

Today’s ruling, he said, is extending the national dialogue on the commercialization of genetic material.

“The NIH budget is getting smaller and increasingly research institutions are partnering with industry. That's where this more complex issue comes in with questions about funding basic science.”

As co-lead of the UCSF/UC Hastings Consortium on Law, Science, and Health Policy, which is building a variety of relationships between the two schools, Dohan will moderate a panel discussion on the Supreme Court ruling on June 27 at UCSF Mission Bay. 

“Over the short- to medium-term it will make some of these genetic tests more affordable and that’s good for people who are underserved,” Dohan said. “And it’s a huge win for the research community interested in exploring these genes and has felt squelched around patent issues on naturally occurring DNA.”

Expanding Patient Access to Genetic Testing

Crawford, one of the nation’s first cancer genetic counselors whose work began at UCSF in 1996, says the ruling also means that a lot more genetic panels and next-generation sequencing will become available so that clinicians and patients can make more informed decisions about treatment and prevention of cancer.

"This ruling will give patients more access to complete BCRA1 and BCRA2 genetic testing at a lower cost," she said. 

The improved access will affect patients who are appropriate candidates for BCRA1 and BCRA2 gene testing and have not yet been tested. It also affects patients who were tested in the past but had incomplete testing. Specifically, because testing was availalble through a single laboratory at a high cost, many patients have not had testing for large deletions or duplications, also called "rearrangements" in these BCRA1 and BCRA2.

"We recommend that patients review their test reports to see if their testing included both sequencing and full gene rearrangement testing or call their genetic counselor," Crawford said.

Crawford, who received the UCSF Milton and Helen Pearl Award for Excellence in May, began working with nationally renowned breast cancer surgeon Laura Essermann, MD, MBA, 17 years ago at UCSF, one of only a few places around the country at the time that offered genetic counseling as part of its clinical services.

Crawford explains that there could be an impact on I-SPY because BCRA1 and BCRA2 testing will be more accessible at lower cost and gene test status could impact what types of treatment a patient receives. While this is an enormous breakthrough in genetic testing for hereditary breast and ovarian cancer, as well as other conditions, there is much work left to do.

“Data will be freed up on variants of BCRA1 and 2, and now we could use that information for research and clinical care to learn more about whether those variants are disease causing.”

Making Data Available to Improve Health

Nussbaum told KQED last month that Myriad took the genes out of the public domain because they thought the information was being misused for clinical purposes. “I find that a very difficult explanation because the information is being not misused, but used all the time in clinics to make very serious decisions about medical care.”

One of the major advantages to freeing up the data is the ability for patients to get a second opinion on a variant found on BRCA1 or BRCA2 genes and to share that information across the scientific community to learn from it. “The whole point is to have a community of molecular geneticists analyzing this data and deciding – almost as a crowd-sourced curation – what do we think these variants mean,” he said.

Nussbaum said the real issue is about saving lives and sharing data to improve health.

“I don’t like to sit across from a patient and say to them, ‘Well, we tested your gene. We found this variant. I don’t know what it means,’” he said. “And now I’ve introduced a huge amount of worry into this patient’s mind without being able to satisfy it one way or another. I can’t tell them what it means. It happens to me pretty much every week. That’s not the way I want to practice medicine.”