U.S. Supreme Court Invalidates Patents on Breast and Ovarian Cancer Genes Thursday, June 13, 2013 “Gene patents hinder advances in patient care and make the process slower and more expensive for women to find out if they have certain gene mutations that could adversely affect their health.” — Steve Kroft, MD, FASCP President-elect of ASCP The U.S. Supreme Court today invalidated patents on two genes associated with hereditary breast and ovarian cancer in response to a lawsuit filed by the American Civil Liberties Union (ACLU), which includes the American Society for Clinical Pathology (ASCP) and several other medical professional associations, on behalf of researchers, genetic counselors, patients, and breast cancer and women’s health groups that has far-reaching implications for pathology, laboratory medicine, and patients. “Isolated DNA is a product and law of nature, not an invention, so it is not open to patent protection,” said Steve Kroft, MD, FASCP, president-elect of ASCP. “Gene patents hinder advances in patient care and make the process slower and more expensive for women to find out if they have certain gene mutations that could adversely affect their health.” The patents allowed a Utah company, Myriad Genetics, to control access to the genes, known as BRCA1 and BRCA2, which gave them the right to limit others from doing research or diagnostic testing of the genes, which can be crucial for individuals making important medical decisions. By enforcing its patent for the testing of patients for BRCA1 and BRCA2 gene alterations for many years, Myriad Genetics has prevented other laboratories from developing tests for these mutations and limited research on these gene alterations that could lead to advances in diagnosis and treatment for patients. “I know the costs of these tests will be considerably lower without patent protection, allowing more women at risk to be tested,” said Ossama Tawfik, MD, PhD, FASCP, a member of the ASCP Fellow Council and an expert in breast cancer pathology at the University of Kansas Medical Center. The Court’s unanimous decision found that naturally occurring DNA is a product of nature and not patent eligible merely because it has been isolated. “Laws of nature, natural phenomena, and abstract ideas … are basic tools of scientific and technological work” that lie beyond patent protection, wrote Justice Clarence Thomas on behalf of all justices. Justice Antonio Scalia did file a short concurrence stating that he cannot sign on to the discussion relating to the finer details of biology. However, the Court also ruled that cDNA is patent eligible because it is not naturally occurring. Some cDNA patents may not be patent eligible where the cDNA is indistinguishable from natural DNA. The Court expresses no opinion on whether cDNA is otherwise patentable. “The restriction of research on these genes has violated time-honored principles of free exchange of information in the areas of scientific inquiry,” Dr. Kroft said. Additionally as a result of the U.S. Supreme Court ruling, laboratories nationwide can provide more genetic testing and patient diagnosis by pathologists that will inevitably lead to new developments in genetic research. This allows for greater possibility for improved screening for breast and ovarian cancer. The earlier detection will improve patient outcomes, resulting in fewer deaths for patients. Now patients can obtain a second opinion, which Myriad Genetics has not allowed. Genetic testing can be developed that screens multiple genes for certain conditions, giving patients and pathologists a better understanding of how genetic factors might affect diagnoses and treatment. BRCA1 and BRCA2 are two of 23,000 genes in the human genome. Up to 2.5 percent of all women in the United States have BRCA1 or BRCA2 gene mutations, which results in a 50- to 90-percent lifetime risk for breast cancer and a 25- to 50-percent risk for ovarian cancer. This compares to an average women’s lifetime risk of 12.2 percent for breast cancer and 1.7 percent for ovarian cancer. Now those restrictions are removed, and patients will reap the benefits.