Fialho Arsenio M, Chakrabarty Ananda M
Institute for Biotechnology and Bioengineering, Center for Biological and Chemical Engineering, Dept. of Bioengineering, Institute Superior Tecnico, 1049-001 Lisbon, Portugal.
Recent Pat DNA Gene Seq. 2011 Aug;5(2):81-5. doi: 10.2174/187221511796392015.
Mutations, Single Nucleotide Polymorphisms (SNPs), deletions and genetic rearrangements in specific genes in the human genome account for not only our physical characteristics and behavior, but can lead to many in-born and acquired diseases. Such changes in the genome can also predispose people to cancers, as well as significantly affect the metabolism and efficacy of many drugs, resulting in some cases in acute toxicity to the drug. The testing of the presence of such genetic mutations and rearrangements is of great practical and commercial value, leading many of these genes and their mutations/deletions and genetic rearrangements to be patented. A recent decision by a judge in the Federal District Court in the Southern District of New York, has created major uncertainties, based on the revocation of BRCA1 and BRCA2 gene patents, in the eligibility of all human and presumably other gene patents. This article argues that while patents on BRCA1 and BRCA2 genes could be challenged based on a lack of utility, the patenting of the mutations and genetic rearrangements is of great importance to further development and commercialization of genetic tests that can save human lives and prevent suffering, and should be allowed.
人类基因组中特定基因的突变、单核苷酸多态性（SNP）、缺失和基因重排不仅决定了我们的身体特征和行为，还可能导致许多先天性和后天性疾病。基因组中的此类变化还会使人们易患癌症，并显著影响许多药物的代谢和疗效，在某些情况下会导致药物急性毒性。检测此类基因突变和重排的存在具有重大的实际和商业价值，导致许多此类基因及其突变/缺失和基因重排被授予专利。纽约南区联邦地区法院一名法官最近作出的一项裁决，基于撤销BRCA1和BRCA2基因专利，给所有人类基因以及可能的其他基因专利的资格带来了重大不确定性。本文认为，虽然BRCA1和BRCA2基因的专利可能因缺乏实用性而受到质疑，但对突变和基因重排授予专利对于能够拯救生命和预防痛苦的基因检测的进一步开发和商业化至关重要，应该予以允许。
