Awareness about genetic testing to know if a woman with a family history of breast cancer and ovarian cancer carries certain deleterious mutations in the BRCA1 and BRCA2 genes has surely increased following Angelina Jolie’s recent revelation of her bilateral mastectomy. In the process, she has turned the spotlight on a high-voltage patent case in the U.S. Supreme Court. The court’s decision will set a precedent on whether “composition claims” on human genes (isolated but otherwise unmodified DNA fragments and complementary DNA) are valid. At stake is Myriad Genetics and the University of Utah Research Foundation’s patent claim on the two genes. Since breast cancer is the number one cancer afflicting women, and about 10 per cent of breast cancer cases are hereditary in nature, the number of women who need this test is potentially high. Those with a family history have a 35-80 per cent elevated risk of getting breast cancer. Yet, at more than $3,000 for a test, with additional cost for more tests, many cannot afford it; prohibitive cost has been a problem since 1994 when the patent was first filed. As a result, many women are unable to get breast cancer diagnosed and treated at a very early stage, and doctors lack the vital information that would be useful in treating patients.
With the testing of this case in court, the extraordinary loss suffered by human beings, and science, due to the mindless grant of patents for “engineered DNA molecules” has come out clearly for the first time. That the mere act of isolating a part of the human genome — isolated DNA — with no modifications whatsoever was and continues to be considered an “invention” is an affront to science, to say the least. After all, laws and products of nature cannot be patented. The vacuous claim that isolated DNA fragments do not occur in nature stands exposed. Apparently, isolated DNA fragments are routinely found in human blood, urine, sputum and stool. Technically, complementary DNA (cDNA) might be considered an invention on the grounds that it is not seen in nature and is a product of human manipulation. But what good is that to millions of women with deleterious BRCA mutations who would gain tremendously from the latest advancements in science? As a June 2010 paper in the Proceedings of the National Academy of Sciences points out, next-generation sequencing permits the identification of mutations in the “21 known breast and ovarian cancer genes” at a cost of just $1,500. Further modifications can reduce the cost to “less than $500 per sample.” Should the absurdities of patent law continue to deny women greater access to better and cheaper techniques?