Who Owns My Disease?

In the scramble to patent human genes, companies have put profits ahead of patients’ needs. Now some families with congenital diseases are staking a claim on the genetics revolution-and their own DNA.

It’s just a rash, the pediatrician said, palpating the raised red dots on seven-year-old Elizabeth Terry’s neck. But something about the look of those spots bothered Sharon Terry, and when she took her daughter to a dermatologist, her maternal instincts were confirmed. Elizabeth and her five-year-old brother, Ian, turned out to have a disease called pseudoxanthoma elasticum-PXE, for short. The rash was an innocuous harbinger of the rare congenital condition, which causes elastic tissue to become calcified in the skin, eyes, and other organs. The kids, having inherited copies of the PXE mutation from each parent in two unlucky rolls of the genetic dice, could go blind in their 30s, or die of a heart attack at 50, although the severity of the disease is hard to predict.

“I was shocked,” Sharon Terry recalls. “I was expecting that we’d have to change laundry detergents. Then I thought, ‘Well, it’s a skin disease.’ Instead, I find out they have an untreatable illness.” The day of that visit, just before Christmas 1994, was the worst in her life. It also may have marked a turning point in the history of the human genome.

If Sharon and her husband Patrick hadn’t been intensely down-to-earth, optimistic people, if they hadn’t been living in a time and place of technical acceleration and capitalist optimism when anything seemed possible, they might have suffered their children’s fate in silence. They might have accepted it as God’s will or put all their trust in some vague promise of science, then gone on with their lives.

As it was, the Terrys did something no family with a disease had ever done: They set out to find the gene responsible for their children’s condition-and to claim ownership of it for themselves and other families. From their home in suburban Boston, they organized a worldwide association of individuals with PXE, assembled a collection of DNA samples, and helped scientists search for the mutation that causes the disease.

A major breakthrough came last year, when a team of scientists led by researchers at the University of Hawaii announced that they had found the PXE gene, and that they were applying for a patent on it. As a co-discoverer of the gene, the patent application listed Sharon Terry.

It was a step that might have seemed bizarre only a decade ago, when genetic discoveries were rare, exhilarating, and considered as fundamentally public as, in the words of one geneticist,”the air we breathe and the water we drink.” But by the time the PXE gene was found, all that had changed. In the breathtakingly short time it took to complete the Human Genome Project-the effort, largely concluded last year, to map all 3 billion chemical units of human DNA-genetic information has become simultaneously more accessible and a great deal more valuable: As medicine closes in on gene-based treatments for diseases from breast cancer to Alzheimer’s and diabetes, whoever controls the right to key bits of DNA controls a potential mother lode of profits.

It’s no surprise, then, that biotech companies, hospitals, and universities have raced to stake a claim on the genome, filing patents on thousands of genetic discoveries from the dramatic to the trivial. And like all gold rushes, this one has its share of hype, waste, false exuberance-and injustice.

Defenders of gene patents argue that only the prospect of exclusive ownership-and profit-can motivate the kind of costly research needed to cure some of humanity’s most vexing diseases. But as the practical applications of the new biology begin to take shape, a less encouraging picture has emerged. Companies have prohibited researchers from testing patients for the genes for breast cancer, Canavan disease (a crippling neurological condition that kills children before age 20), and an iron overload condition called hemochromatosis. At least one company has abandoned research on potential cancer drugs because of competitors’ claims to the DNA information involved. And at some university labs and hospitals, researchers and patients are finding themselves locked out of the genetics revolution by thickets of patent claims.

The Terrys didn’t file the PXE patent to make money. In a field driven by “blockbuster” diseases like diabetes and cancer, companies aren’t exactly lining up to work on a condition that affects roughly 11,000 Americans. But the gene may prove valuable in another way: It plays a key role in certain cellular mechanisms and could help provide insight into more common conditions such as cystic fibrosis. When that happens, companies interested in using the gene and any information related to it will have to negotiate with the Terrys-committing, for example, to helping find a test or even a cure for the children’s disease.

In other words, the patent stands to give the Terrys something no other family or patient group now has: a way to make sure that the genetics revolution benefits those with the most at stake. “We didn’t want to do the science without the ethics,” says Sharon Terry, “and the only way to make it all work was to have control of it ourselves.”

Nothing can really prepare you for the discovery that your children have a potentially fatal inherited disease. But the Terrys were better equipped to deal with it than most people. Sharon, a forthright, quick-talking New Englander with dark eyes and brown hair, has degrees in geology and theology-“God and rocks.” She was a nun until shortly before she met Patrick on a rock-climbing trip in Connecticut. In the winter of 1994 she was homeschooling the children and teaching part time at the Museum of Science in Boston. Patrick, an engineer with a background in marine biology and a knack for solving complex problems, had worked in construction for 15 years. His projects often involved coordinating the wiring, plumbing, and venting systems for the biotech buildings that sprang like mushrooms from the Harvard- and MIT-fed area around the banks of the Charles River. He saw the challenge of PXE as an engineering project “in which you fast-track all the elements at once.”

A few days after Sharon learned of the children’s diagnosis, the couple began researching PXE at the University of Massachusetts Medical School library. After overcoming their initial awe at scientists and their jargon, they came to a disheartening conclusion. “We realized nobody knows what’s happening with this disease,” Sharon recalled recently over coffee at a convention of skin-disease specialists.

With the help of friends, neighbors, fellow patient advocates, and the Internet, the Terrys embarked on an unprecedented project: They sought out people with PXE and their family members, and asked them to provide blood and tissue samples. “We realized that if we got enough people’s DNA, we could find the gene,” Sharon Terry explains. “So we decided to make a central repository. And we decided to keep the key to the repository ourselves.”

The Terrys made the collection, which now contains some 1,000 samples, available to researchers interested in PXE. They also raised funds for research-a total of $500,000 over three years-and served as a clearinghouse for PXE science. They helped establish connections among labs from Honolulu to Modena, Italy, and they awarded a grant to scientists at the prestigious Jackson Laboratories in Maine to create a genetically altered mouse whose condition mimicked PXE. Last June, in a reflection of just how important the couple’s work had become, the scientific journal Nature Genetics listed Sharon Terry as a co-author of two landmark papers on PXE. It is almost unheard of for a layperson to get credit for such a publication.

But the DNA bank was only part of what drew scientists to the PXE effort. In a field dominated by pharmaceutical giants and venture-capital-funded startups, many were simply glad to see a project that sought only to help patients. One of the Terrys’ early allies was Eric Johnson, a neuroscientist at Arizona’s Barrow Neurological Institute who also does genetic testing at St. Joseph’s Hospital in Phoenix.

Johnson found PXE International thanks to a serendipity of the type that’s become distinctly more common in the Internet age. Sharon Terry had posted news about the group on a fan club listserv for the Canadian folksinger Loreena McKennitt, whom both loved. Now, Terry ships blood-drawing kits to PXE families, who then mail their samples to Johnson’s Arizona laboratory. “I’m an old-school scientist,” says Johnson. “I believe in science for the public good. We’re not working in that world anymore. We’re much more commercial-people can get rich. But having somebody like Sharon in your corner puts things back in perspective. SheÕs a mom. A real person.”

The U.S. Supreme Court threw open the floodgates to the patenting of life-forms-and their DNA-in 1980, when it ruled that General Electric had legal ownership of an oil-eating bacteria created by one of the company’s scientists. As cloning and gene-location techniques slowly advanced through the ’80s, scientists occasionally filed patents on specific genes. But the debate didn’t really get under way until 1991, when Craig Venter, a scientist at the National Institutes of Health, announced that he, on behalf of the NIH, had filed patent applications for several hundred DNA fragments he had “discovered” using gene-decoding machines.

The move set off a scientific shouting match, with critics-among them Nobel laureate James Watson, who headed genetics research at the NIH-charging that filing patents on such crudely derived information could tie biomedical research in knots. Both Venter and Watson quit the NIH over the dispute, and Venter eventually launched a private company, Celera Genomics. Last year, the firm announced that it had completed a full sequencing of the human genome in just two years, compared to the 15 years the NIH had claimed such an effort would take.

In the wake of Venter’s maverick patents, biotech companies have barraged the U.S. Patent and Trademark Office with applications for genes located by sequencing machines and computerized database searches. “For most genes of obvious utility, there’s at least one patent application pending,” says Roger Brent, who directs research at the Molecular Sciences Institute, a cutting-edge private lab in Berkeley, California. Considering, he adds, that a few companies claim to have found tens of thousands of genes-although there probably are no more than 40,000, total, in the human genome-it’s likely that for many genes “there is more than one alleged owner.”

Many of the patent holders, including Celera, have freely lent their data to academic scientists. But the generosity often ends when the research leads to the creation of a product. In 1997, a Salt Lake City-based company called Myriad Genetics obtained patents on several mutations in the BRCA1 and BRCA2 genes, which are responsible for thousands of cases of breast cancer each year. Two years later, research directors at laboratories across the country got a letter from Myriad ordering them to stop testing for the patented series of mutations. Clinicians who wanted to continue testing would have to use a procedure Myriad had designed and was selling, for $2,700 per use.

Biotech firms aren’t alone in clamping down on access. University medical centers and nonprofit hospitals, scrounging for cash in an era of diminishing federal funds, “are just as hard-nosed in enforcing patents,” says Wayne Grody, a UCLA medical geneticist.

In perhaps the most egregious case, Miami Children’s Hospital sent out letters to genetics laboratories nationwide in 1998, announcing that it had been granted a patent for the genetic defect that causes Canavan disease. Canavan is a terrifying brain condition that strikes primarily Ashkenazi Jews, beginning in infancy and generally killing before age 20. At the time, a few laboratories were performing an “Ashkenazi panel,” a set of tests for Tay-Sachs, cystic fibrosis, and five other illnesses that occur disproportionately among Jews of Eastern European origin. They wanted to add Canavan, which strikes 1 in 6,400 Ashkenazi Jews (single copies of the gene are present in 1 in 40 Ashkenazis), but the hospital refused to broadly license the test. “It was ungodly,” says Michael Watson, executive director of the American College of Medical Genetics.

It was also an insult to the families of Canavan children, who had made the discovery possible in the first place. Much like Sharon and Patrick Terry, Daniel and Debbie Greenberg of Chicago-whose two children died of the disease-had worked for years to round up DNA samples for a researcher named Reuben Matalon. Unlike the Terrys, though, the Greenbergs began their search for a cure in the 1980s, well before most people conceived of the possibility that one might own a gene. Last year, the Greenbergs along with several other Canavan families and nonprofit foundations sued Miami Children’s and Matalon (who worked for the hospital at the time he found the gene), claiming that they had filed the patent in secret without notifying the families who had contributed DNA. The suit is pending.

Sometimes, it’s not the potential for big profits that restricts access to a gene test, but just the opposite-lack of commercial incentive. In 1996, a Stanford University research team found the gene for hemochromatosis, a little-known disease in which the blood absorbs abnormally high levels of iron from the diet. The condition is surprisingly common-it affects as many as 1 in 300 Americans-but frequently not diagnosed; patients who do know they have it can be easily and inexpensively treated by bleeding.

The Stanford scientists launched a biotech company, but found it hard to raise money for research that offered little promise for a lucrative test or drug. The patent bounced from company to company before landing at SmithKline Beecham Clinical Laboratories, a division of the pharmaceutical giant now known as GlaxoSmithKline. In 1998, SmithKline sent a letter to laboratories, ordering them to stop performing or developing tests for the gene it now owned. A survey by researchers at Stanford and the University of Pennsylvania found that 21 percent of the labs complied.

“You can choose to ignore a patent, and hope it won’t affect you-until they come after you,” says UCLA’s Grody. “Or you just don’t offer certain tests. We stopped running hemochromatosis for a while.” Last year, SmithKline sold the patent to another company, Bio-Rad Laboratories. Bio-Rad is encouraging researchers to use the hemochromatosis test, for a fee.

Eric Johnson, the Phoenix geneticist, says clinicians regularly run up against restrictions like those imposed by SmithKline. “Virtually at every turn you can’t perform tests that youÕd like to bring on board,” he says. “With the high-volume tests, the moneymakers like the breast cancer gene, you’ve got more lawyers than scientists involved, and we’re a Catholic charity hospital. We don’t have the resources to fight those legal battles.”

Many of Johnson’s colleagues share his concern. A 1997 study found that nearly 50 percent of genetics labs surveyed had decided not to develop or perform a test because of potential patent conflicts. And in 1999, the American College of Medical Genetics, which represents more than 1,000 geneticists, condemned gene patenting and demanded more lenient licensing agreements. Watson, the college’s executive director, says companies that restrict access to gene tests risk killing the goose that lays the golden eggs: If scientists can’t use the tests, they won’t grasp the full meaning of genes or their potential to yield treatments and cures.

“It’s a marketplace thing,” says Watson. “Unfortunately, the marketplace doesn’t have short-term sense.”

Part of the problem is that a patented gene may mean far more, or less, than what its “inventor” thinks. Consider the case of Human Genome Sciences, a Maryland company run by aids researcher-turned-entrepreneur William Haseltine. Last year, the company obtained a patent that covers the dna code for a cell receptor called CCR5, which plays a key role in the HIV virus’ entry into the cell.

To many critics, Haseltine’s claim precisely symbolized the dangers of genetic patents. Even though he had only a vague idea of CCR5’s function at the time he filed the application, the patent gave him exclusive ownership of the gene-and, in theory, the ability to control, or reap profit from, the work of any other scientist studying CCR5.

As it turned out, the fears were unfounded: Haseltine hasn’t demanded licensing fees from researchers, and his patent is only one of hundreds filed on HIV-related mechanisms and particles. But questions about the far-reaching rights granted to patent holders are becoming more acute in several areas of medicineÑfrom the dispute over the cost of aids drugs in the developing world to this summer’s revelation that a U.S. biotech company has claimed a sweeping patent on the process used to grow human stem cells.

The controversy is likely to heat up as companies set their sights on the true gold mine of medical genetics-pharmaceuticals. While a single patent may not affect the creation of a new drug, it does add royalty costs, and the cost of multiple patents can pile up quickly. “Are we going to make things dramatically more expensive because of layering and stacking of patents?” asks Eric Lander, a renowned genetics researcher who heads mitÕs genome center. “Are we going to discourage drug companies from working on projects because of the patent bars around them?”

In the view of Ronald Pepin, an executive with a New Jersey biotechnology firm called Medarex, that is already happening. In his previous job at Bristol-Myers Squibb, he watched the pharmaceutical company drop dozens of promising targets of cancer research because “there were too many patent claims around everything. The science brought them to a point, but the patents blocked them from moving forward.”

Even drugs already on the market can face challenges based on newly patented genes. Last year, the University of Rochester won a patent on the dna sequence that underlies the functioning of a host of painkillers, including the popular arthritis medicine Celebrex. The school immediately filed suit against the pharmaceutical company Searle, demanding that it stop selling the drug, which has been on the market since early 1999. The multibillion-dollar suit is slated for trial next year.

Some scientists are worried about what will happen when patients join the patenting fray. Medical research, they note, has historically depended on free access to patients’ blood samples, tissues, and genes. “There’s a lot of concern that the PXE phenomenon will enter into every bargaining situation between patients and researchers,” says a Johns Hopkins University geneticist who spoke on condition that she not be identified. “That could slow research down. The scientist might not care about the money from the patent, but his institution probably will.”

Such concerns are unlikely, however, to deter the newly vocal patient advocates. Organizations dedicated to this or that specific disease have proliferated in recent years, helped along by the Internet and researchers’ growing interest in people with unusual genetic profiles. And while PXE International is the only group to have sought ownership of its gene, others are flexing their muscle.

One could see the Terry approach spreading at a June gathering in Washington, D.C., called the People’s Genome Celebration. At the three-day festival-like event, people with genetic diseases got to rub elbows with leading academic and industry scientists. A composer played music based on patterns in the four nucleotides that compose DNA; fashion photographer Rick Guidotti showed a documentary of his trip around the world photographing albinos.

The conference was organized by the Genetic Alliance, an umbrella group for 300 genetic-disease organizations representing hundreds of thousands of patients. Sharon Terry used the occasion to meet with some of the 20 or more groups that have asked for her advice on advancing research on their diseases. (After years of volunteering, both Terrys now work full time on genetics issues. Sharon is the Genetic Alliance’s vice president for consumer affairs. And Patrick last year joined several scientists in launching a “consumer biotech company” that, he says, seeks to combine the interests of patients, drug companies, and doctors. The company, Genomic Health, has yet to develop any product or service.)

“One of the new philosophies that emerged from the People’s Genome Celebration is, If you don’t share, you don’t play,” says Colleen Zak, a Kirkwood, Pennsylvania, mother who heads a group of families with an inherited kidney disease. Zak is setting up a central dna bank like PXE International’s. Several other disease organizations, including the Juvenile Diabetes Research Foundation, now run their own scientific programs, funding researchers directly.

“It makes sense for the patient groups to be at the center of decisions about who owns the intellectual property and the genetic information itself,” says Mary Davidson, the Alliance’s executive director. “The point of what the Terrys have done is not to bring profits to them, or even to PXE International. It’s this: to be sure that if I participate in the research, I benefit.”

Of course, when they step back from the whirlwind of research papers, conferences, and emails, the Terrys realize that those benefits are more elusive than the biotech hype suggests. They and their scientist allies have found the PXE gene, but they still don’t know how it works. Once those links have been determined, they hope, it will be possible to devise an inexpensive test so that relatives of children like Ian and Elizabeth can find out whether they carry the gene. Any help for the patients themselves could be years, even decades, away.

“We haven’t done a thing yet,” notes Sharon, “that will cure the kids.”


Mother Jones was founded as a nonprofit in 1976 because we knew corporations and the wealthy wouldn’t fund the type of hard-hitting journalism we set out to do.

Today, reader support makes up about two-thirds of our budget, allows us to dig deep on stories that matter, and lets us keep our reporting free for everyone. If you value what you get from Mother Jones, please join us with a tax-deductible donation so we can keep on doing the type of journalism that 2018 demands.

Donate Now