Inside every cell of your body are 23 tightly packed strands of DNA with an estimated 20,000 genes dictating everything from the color of your eyes to your susceptibility to a certain type of cancer. Although the cost of sequencing your genome and unlocking your body's secrets has dropped substantially over the last decade, you may not have the right to find out the sequence of a specific gene and learn what it means for your health.
FOR THE RECORD:
DNA testing: A Health section article Monday on gene patents, "Patent Pending," said there were 23 tightly packed strands of DNA in every cell in the human body. In most cells of the body, there are 23 pairs of these tightly packed strands, called chromosomes. So for most cells, the total number of chromosomes is 46, not 23. —
That's because an estimated 20% of all human genes have been patented and licensed by private companies such as Athena Diagnostics of Worcester, Mass., or Myriad Genetics of Salt Lake City. These companies hold monopolies on interpreting the information contained in the patented genes they license. And until these patents expire, patients have only one choice when seeking diagnosis for certain diseases.
Companies that sell gene-based tests argue that such monopolies foster investment in research and development for life-saving diagnostic tools. Opponents say that the system limits patient access to tests, chills genetics research and has in some cases driven up prices.
In fact, the evidence is mixed. Robert Cook-Deegan of Duke University conducted a study for a recent government report and found that patent protection does benefit development of some diagnostic tests but in other cases limits access to certain tests for rare diseases, including one called spinocerebellar ataxia.
In a landmark decision last month, a federal judge in Manhattan sided with the American Civil Liberties Union and struck down Myriad Genetics' patent claims on two genes linked to the hereditary risk of breast cancer, BRCA1 and BRCA2. An appeal to the legal decision is expected, and the debate is not likely to end soon. Read on for two competing views on the topic.
Gene patents limit patient access to tests
David Ledbetter is director of the division of medical genetics at Emory University School of Medicine and is a plaintiff in the Myriad lawsuit.
"I oppose gene patents because I don't believe that any one laboratory should hold a monopoly on a diagnostic test. That prevents normal quality-control procedures and limits patient access to tests.
"Monopolies prevent patients from getting a second opinion. It is also impossible to evaluate a lab's performance if you can't compare that performance with other labs. Having only a single laboratory provide tests also creates obstacles to innovation and quality improvement.
"In addition, there have been financial problems with [patients getting] access to the technology. Many labs, both commercial and nonprofit, do not accept out-of-state Medicaid due to their low reimbursement rates. That leaves the local hospital to determine if they can pay for genetic testing if the patient is unable to foot the bill. Here at Emory, we write a $50,000 grant every year to the Susan G. Komen Breast Cancer Foundation to test uninsured, under-insured, or Medicaid patients at risk for hereditary breast cancer.
"Gene patents are not a necessary incentive for the development of diagnostic tests today. They may have been 10 or 20 years ago when Myriad obtained its patents, but today if a scientist discovers a gene, our diagnostic labs can develop tests involving a single gene for $10,000 to $15,000. That's a very modest, if not trivial, cost to set up a new test. That means it is possible to commercialize and make diagnostic tests widely available without patent protection.
"Legally, I also think there are flaws with patenting genes, which are substances that occur in nature. One purpose of the patent system is to stimulate people to invent in areas not covered by patents that already exist. However, it is not possible to invent an alternative to a gene because there is no alternative substance. This suggests to me that it is something fundamental in nature and that it shouldn't be patented.
"I have a slightly different view when it comes to developing drugs based on gene patents. Drug development can be 10 or 100 times more expensive, and companies will not make that investment unless they have some degree of exclusivity."
Gene patents granted today are not a problem
Ronald Eisenstein is an intellectual property attorney specializing in biotechnology in the Boston office of the law firm Nixon Peabody.
"One of the things that has happened in terms of gene patents as the law and the science have evolved is: It's actually pretty hard to get such patents. The human genome has been mapped, and a basic gene patent is quite rare. The heyday when people were getting these patents was 10 years ago.
"The issue of whether insurance or Medicaid wants to cover a test for a genetic disposition for a disease is a healthcare issue, and you would have that issue whether or not you have patents covering the test. One of my colleagues at work decided he wanted to have a genetic test done because his mother died of ovarian cancer and he's an Ashkenazi Jew, so he was concerned that he might be a carrier and pass the gene on to his daughter. Even though he met his insurance company's criteria, they denied him coverage. These tests are being denied because of coverage problems with insurance companies and reimbursement by Medicaid, not the maker of the diagnostic test. Additionally, some universities and hospitals that have discovered and patented genes and license them to private companies are beginning to require that the company makes commercial tests available to the poor.
"Some people argue that it doesn't take much effort to develop a diagnostic test today. That's not really true. The fact that you find a correlation between a gene and a disease in an academic laboratory doesn't mean that it has been validated in the clinic and is sufficient to make medical and insurance coverage decisions. Increasingly, diagnosis is based on correlations with a large number of genes. You need a company like Myriad to spend money to show that it is accurate. The U.S. government is not paying for that. How much money would any company put into validation if anyone could come along and run the test without paying for it? Instead of having more tests available in the absence of patent protection, we are going to have fewer tests.
"My own view is that people in the diagnostic industry have not done a good job explaining to the public why they need patents. Most of the public gets alarmed by these patents, but we've seen tremendous development in this field in the last 30 years through now-criticized patent protection. The patent system is not a perfect system — it certainly has its flaws — but critics have yet to present a feasible alternative system, such as government subsidies for diagnostic test validation.
"Given the current government budget deficits, looking to the government to pay for the additional work is not going to happen. Without the economic incentive provided by the patent system, no one else is going to step up to do the work."