Patenting Human Genes - An Update

In April of this year a U.S. District Court judge issued an order invalidating the patents on several human genes held by a company called Myriad Genetics. (See this blog, April 5, 2010.) The company promptly appealed, sending the issue to the next judicial level, the U.S. Court of Appeals.

Last month the U.S. Department of Justice filed a friend-of-the-court brief with the Court of Appeals, supporting the position that human genes should not be patentable. In its brief the Justice Department stated that “The chemical nature of native human genes is a product of nature, and it is no less a product of nature when that structure is ‘isolated’ from its natural environment than are cotton fibers that have been separated from cotton seeds or coal that has been extracted from the earth.” (The defendants in the case had tried to argue that their method of gene isolation had somehow fundamentally changed the genes, making them patentable.) However, in a bit of a compromise, the Justice Department’s brief also suggested that human DNA that is altered in some way (i.e. is not the original human gene sequence) could still be patented.

The U.S. Patent and Trademark Office has been issuing patents for human genes for years, but the legality of the patents has never been challenged in court. The outcome of the court case could affect the commercial use of numerous human genes and gene products. For now, we await the decision of the U.S. Court of Appeals.

Human Gene Patents Invalidated

Basing his decision on legal arguments that human genes are products of nature and hence cannot be patented, in March of 2010 a U.S. District Court judge invalidated several patents held by a company called Myriad Genetics on the human breast cancer genes, BRCA1 and BRCA2. Myriad Genetics sells a kit used to test for the two genes for about $3,000. The company tried to argue that their method of isolating the genes changed the genes, and thus made them patentable. But the judge ruled that such an argument was just a trick to circumvent the prohibition on the direct patenting of DNA.

About 20% of human genes have already been patented. A number of biotech companies were planning to make a hefty profit by developing and selling patent-protected genetic tests or by selling the patent rights to others. Whether all of those patents could ultimately be invalidated is unclear. With potentially billions of dollars at stake, the decision is likely to be appealed.

Medical and research organizations and patients are pleased by the decision. If it holds up on appeal it should provide wider access to human genes currently under patent protection, and ultimately make genetic tests like those for BRCA1 and BRCA2 less expensive.

Genetic Screening Tests

What a difference a decade makes. Back in 2000, most U.S. states screened newborn infants for just four genetic disorders. Today, all 50 states screen for at least 21 of the 29 serious genetic or functional disorders that the American College of Medical Genetics recommends for testing. The list includes cystic fibrosis, sickle cell anemia, hypothyroidism, phenylketonuria, and a host of other conditions so rare you’ve never heard of them.

A list of the screening programs and tests provided by all 50 states can be found on the National Newborn Screening and Genetics Resource Center website. For information about the recommended tests, go to the March of Dimes website.

GINA Finally Passes

After thirteen years of wrangling and a failed attempt last year (see this blog, May 8, 2007), Congress finally passed the long-awaited Genetic Information Nondiscrimination Act (GINA). President Bush signed it into law on May 21, 2008.

GINA makes it illegal for health insurers to deny coverage or raise premiums based on genetic information. It also prohibits employers from using genetic information in making decisions regarding job assignments, promotion, hiring, or firing. Patients and health care workers had been pushing for the bill for years, claiming that people were afraid to take genetic tests, such as the one for the breast cancer genes BRCA1 and BRCA2, because they were afraid of being denied insurance coverage or a job should they test positive.

Why did it take so long for the bill to pass? Some lawmakers, most notably Senator Tom Coburn of Oklahoma, were worried that the bill would create a windfall for trial lawyers as people sued insurance companies and employers over alleged discrimination in health care coverage. The final bill addresses that question to everyone’s satisfaction, apparently.

Beating the Testosterone Doping Test

According to a study by Swedish researchers, a common genetic deficiency might make it possible for some people to beat the standard testosterone doping test, even if they had been doping with the hormone. The researchers injected 55 male volunteers with testosterone and then tested them with the standard urine test for testosterone doping. More than 40% of all subjects with the genetic deficiency tested negative for testosterone doping over a 15-day testing period.

Two-thirds of the Asian population and about 10% of all Caucasians are deficient in the gene in question. The World Anti-Doping Agency is concerned, but it appears that there is little that they can do about it at this time. Genetic tests would reveal which athletes could beat the testosterone doping test, but genetic testing is not part of the standard anti-doping test for Olympic athletes. Individuals with the genetic deficiency may be able to use testosterone and get away with it, at least until the rules change.

Fear of Genetic Testing

Genetic testing to predict the future risk of specific genetic diseases could significantly improve the delivery of health care (see the Current Issue on pp. 458-459 of Human Biology 5th ed., entitled “The Promises and Perils of Genetic Testing”).

And yet, it appears that many people are avoiding DNA tests out of fear that the information could be misused. They worry that if their DNA test reveals a strong likelihood that they might develop a costly or life-threatening genetic disease later in life, they will become uninsurable even though they are currently healthy (see “Fear of Insurance Trouble Leads Many to Shun or Hide DNA Tests”. The New York Times, Feb. 24, 2008). Insurance companies deny it, of course. But even if insurance companies aren’t currently engaged in genetic discrimination, the commonly held perception that they could is enough to cause some people to avoid DNA tests.

Would your students take a DNA test to determine their risk of developing breast cancer or prostate cancer if those diseases ran in their family? You might ask them.