Opinion: Why Our Genes Should Not Be Patented

Catherine Corman and her father are both BRCA carriers. (Courtesy of Catherine Corman)

Catherine Corman and her father are both BRCA carriers. (Courtesy of Catherine Corman)

By Cathy Corman
Guest Blogger

My father had a radical mastectomy in 1975.

He’d visited a general surgeon to check an eraser-sized lump he’d noticed in his left “breast,” which turned out to be malignant. Researchers in the 1980s pinpointed two kinds of genetic mutations that dramatically increase the odds of developing breast and ovarian cancer. They named these mutations BRCA 1 and 2.

By 1996, Myriad Genetics, a company in Utah, was offering a test that could identify people with BRCA mutations. I strong-armed my father into taking the test and held my breath as we waited for results. We learned that we are both BRCA carriers. For my dad, the result was retrospectively predictive. He had the mutation and developed breast cancer. For me, a healthy 37-year-old mother of young triplets, the implications weren’t so clear. I weighed my options and rolled the dice. By the fall of 1998, I’d had elective surgery to remove my thus-far cancer-free breasts and ovaries.

Along with the rest of the nation, I was on pins and needles last week listening to arguments in front of the Supreme Court about the constitutionality of “Obamacare.” I was also holding my breath, waiting for the decision the justices delivered last week concerning a challenge to Myriad’s monopoly on BRCA DNA and BRCA testing. Researchers, geneticists, and the American Civil Liberties Union asked justices on the Supreme Court to reconsider an appellate court’s ruling that upheld Myriad’s patent of the genetic material. The justices sent the case back to the appellate court and asked it to revisit its decision in light of a related case. This might bring good news or bad for those of us carrying BRCA mutations, but, in any case, the implications of the decision will reach far beyond the small number of us genetically predisposed to reproductive cancers.

Families with histories of any number of inherited diseases — from heart failure to diabetes to mental illness to autoimmune disorders – will increasingly share their DNA with researchers looking for genetic clues. If companies can patent our DNA as Myriad has done, they can, under current law, prevent us from receiving affordable testing and innovative, effective treatments for diseases that have the potential to take our lives.

Myriad argues that courts must uphold its claims because it has done nothing more than to follow previously established patent laws. Starting in the 1980s, the U.S. Patent and Trade Office (PTO) began granting patents on human DNA. Legal experts estimate that since then researchers have won more than 2,600 patents on “isolated DNA” – bits of the human genome extracted from the whole. More than 20 percent of the human genome is currently patented in some way. But the question remains: are laws governing innovation and business always appropriate when it comes to human health?

Myriad’s monopoly on this small slice of human DNA defies reason. Laws that apply in other business models don’t make sense when it comes to human health. For instance, those suspected of carrying a BRCA mutation currently have but one source of testing in the U.S.: Myriad Genetics. But Myriad wasn’t and isn’t the only outfit with the capacity to test for BRCA mutations. Behind the scenes, it filed applications with the PTO. Once Myriad received a patent from the PTO on the BRCA mutations, it systematically shut down every other facility running tests and performing research. In addition, the company has legally been able to exclude a critical BRCA sub-test from its insurance-covered “comprehensive” battery – denying families without ready cash a chance to gain results that could safeguard their health. The courts have also allowed Myriad to stop researchers from moving genetic treatments into human populations that effectively wipe out BRCA-related tumors in mice.

The paradox of modern genetic testing has been the uncertainty of what to do with the results. There haven’t been options aside from anxious, watchful waiting and radical surgery. Those of us who carry the mutations have hoped that our children would have better options, but Myriad is actively blocking work that promises to provide treatments, if not cures. I take this personally. Should any of my children have inherited the BRCA mutation, they will have no better options than I – and not because scientists aren’t finding them.

In November 2010, when the appellate court overturned a ruling in plaintiffs favor, several major newspapers, including The Boston Globe, published unsigned editorials responding to the weight of these patent precedents. The Globe argued that “Congress should seek to devise new rules through a panel of experts” rather than allow the courts to determine the future of Myriad’s claims under U.S. genetic patent laws. Perhaps, in 2010, that seemed an avenue for positive change, but today, in 2012, few reading these lines would imagine that members of Congress could remain civil long enough to resolve such ethically, scientifically, or legally complex matters. I am therefore crossing fingers and toes that when the appellate court reconsiders its decision concerning Myriad, it will open BRCA testing and research to the best and brightest, not just those who got there first.

Cathy Corman is a writer and multimedia producer who teaches American Studies at Umass Boston and keeps an occasional blog, “Bowl o’ Cherries.”

Please follow our community rules when engaging in comment discussion on this site.
  • http://twitter.com/LynchCancers Lynch Syndrome Intl

    From a different perspective, our families have Lynch syndrome.  It is a genetic condition which predisposes individuals to a high risk of a litany of inherited cancers, at a younger than average age.  In example, during our lifetimes, we can face an up to 82% risk of contracting colorectal cancer, a 65% risk of contracting endometrial cancer, a 19% risk of contracting gastric cancers, a 13% risk of contracting ovarian cancer and a uch higher than average risk of contracting bladder cancer, kidney cancer, pancreatic cancer, hepatobiliary cancers, prostate cancer, skin cancer (Muir Torre) and brain cancer.  There are subsets of Lynch syndrome which are prone to contracting breast cancers, thyroid cancers and sarcomas…all in all, pretty serious stuff which can only be diagnosed through genetic testing.

    It was discovered in the 1960s.  Medical professionals and researchers denied its existence, setting research back.  Finally accepting medical evidence, medical professionals were reluctant to diagnose, concerned individuals would be fatalistic.  Finally, initial diagnostic testing was developed in the 1990s.

    Today, about five percent of those in the U.S. of the over 600,000 thought to have Lynch syndrome have been diagnosed.  This is the medical professon’s biggest failure, when a test exists that could prevent entire families from contracting life threatening cancers.

    Why?  The test is licensed to many testing companies…nobody has a significant interest in the test to teach individuals about Lynch syndrome, to promote public awareness and to educate medical professionals.  Whole families are getting wiped out…young parents are dying, while medical professionals (primarily general practitioners and OB-GYNs) remain ignorant as to its existence or simply discount it as “being rare.”  Lynch syndrome is far from rare…it is underdiagnosed.

    With nobody holding a significant interest in the testing, nobody can afford to promote the test or even the condition…it is left to the individuals who are affected and the researchers and their institiutions.  Therefore, until a few years ago, when advocacy became involved, the knowledge of Lynch syndrome was kept within very close circles.

    Research wrote articles about it, however these articles were published in various journals behind locked walls…they never reached the doctors and when finally released, it was old news…even families trying to find information couldn’t do so, without paying $35 for each article.

    Today, the problems still exist…releasing the test hasn’t improved research. Very little research is done on Lynch syndrome and most serious research is now conducted outside of the United States.  The cost of the initial full sequencing hasn’t reduced, though it is sold and licensed to many institutions…most of which are public.

    In a capitalistic society, where health care is a commodity, someone has to own a test or own patents in order for the test to get to the public…the government isn’t doing a good job with working with these issues…8500 rare diseases and they are actively working on less than 400…the research institutes are great with science, but not so hot with marketing…the medical schools are now educating on Lynch syndrome and the commercial test companies are working on a market share–at least some of them.  There are many who simply put it on their menu of tests and do absolutely nothing….

    The issue is far more complicated, when looking at the big picture, of “who owns the genes.”  For those of us diagnosed, we are the lucky ones.  The five percent of us have a chance at life…our desire is to see everyone get that opportunity, so we hope it won’t take another fifty years for the stakeholders and powers to be to figure out whow to do that…

    In writing this, we are not advocating for any position on any testing limitations or patenting, but merely explaining an alternative situation and its drawbacks…as well as making individuals aware of the limitations and the red flags of some of the alternatives.