Gene patents are dead...sort of

There has been much action recently in the realm of gene patents. In March, the Supreme Court issued a unanimous (!) decision in the case of Prometheus v. Mayo that has important implications for gene patents. Prometheus Laboratories had claimed a patent on a “method” that consisted essentially of administering a drug to an individual, measuring that drug’s metabolites, and adjusting the dose of the drug accordingly (seriously; I didn’t make this up). In a refreshingly logical turn of events, the Supreme Court ruled that such a patent claim was invalid, stating that to allow such a claim would “inhibit further discovery by improperly tying up the future use of laws of nature.” Thus, it would seem that broad methods claims, such as patenting the association between high risk for a disease and mutations in a given gene, are dead. Good riddance.

However, that’s not the whole story. Although many of us saw such methods claims as the most mischievous types of patent claims, we still have no clarity on whether genes themselves can be patented. In the case that many hoped would settle this question, brought against Myriad Genetics over the BRCA1/2 gene patents, the Supreme Court has returned the case to the lower court, directing them to reconsider it in light of the Prometheus decision. So we won’t have legal clarity on this fundamental issue for some time to come.

It is my own opinion that several recent developments profoundly undermine the ultimate legitimacy of gene patents, including the Prometheus decision and new technologies such as massively parallel sequencing that do not rely on “isolation and purification” steps for sequencing. However, I’m also afraid that such patents will continue to cause harm while in their protracted death throes. —James P. Evans, Editor-in-Chief

First brain-only mutation identified

Investigators seeking the cause of a rare neurologic disorder in which half the brain becomes abnormally enlarged provide the first confirmed report of a brain-only somatic mutation. The study was possible because the severe seizures that accompany hemimegaencephaly (HMG) necessitate excision of brain tissue, providing samples for further analysis. Ann Poduri and coinvestigator Christopher Walsh of Children’s Hospital and Harvard Medical School, Boston, studied resected brain tissue from eight HMG patients and reported their results in the April 12 issue of Neuron. In one case, the patient had acquired a known activating mutation in the AKT3 gene, which encodes a protein kinase known to be highly expressed in the brain. The point mutation (c.49G/A, creating p.E17K), which is not present in this patient’s blood cells, is paralogous to known mutations causing overgrowth syndromes in the AKT1 and AKT2 genes. Two additional cases showed brain-only trisomy of chromosome 1q, including the AKT3 gene. As techniques are developed for testing DNA from smaller tissue samples, the possibility emerges of identifying somatic mutations for tissue-limited disorders with less obvious physical manifestations. —Karyn Hede, News Editor

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