Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.
Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.
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DOI：
10.1097/gim.0b013e3181d7acb0
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发表时间：
2010-04
期刊：
影响因子：
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通讯作者：
Cook-Deegan R
中科院分区：
文献类型：
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作者：
Chandrasekharan S;Pitlick E;Heaney C;Cook-Deegan R
遗传性血色素沉着症（HH）是一种铁代谢紊乱，导致过量的铁积累，特别是在心脏，肝脏和胰腺。HFE基因突变是HH最常见的原因，如果早期诊断，可以有效治疗。专利涵盖HFE基因、相关蛋白质、筛选方法和检测试剂盒。大多数HH的初始测试是生化的，但HFE DNA测试或基因分型用于确认遗传性血色病的诊断。2002年出现了对涉及HFE测试的专利的担忧，当时学者们认为，独家许可和专利授权的独家供应商模式导致了高昂的价格和有限的准入。唯一供应商模式的批评者指出，在专利实施之前，该测试可在多个实验室进行。然而，到2007年，Bio-Rad有限公司获得了关键的知识产权，并广泛地进行了分许可。部分由于广泛的非排他性许可，现在有多个供应商和测试技术，研究仍在继续。该案例研究说明了在过去十年中，知识产权所有权的变化和HFE基因检测临床实用性的发展如何影响专利许可和基因检测的可用性。
Hereditary hemochromatosis (HH) is an iron metabolism disorder that leads to excess iron buildup, especially in the heart, liver, and pancreas. Mutations in the HFE gene are the single most common cause of HH, which can be treated effectively if diagnosed early. Patents cover the HFE gene, related proteins, screening methods, and testing kits. Most initial testing for HH is biochemical, but HFE DNA testing or genotyping is used to confirm a diagnosis of inherited hemochromatosis. Concerns over patents covering HFE testing emerged in 2002, when scholars argued that exclusive licensing and the patent-enabled sole provider model then in place led to high prices and limited access. Critics of the sole provider model noted that the test was available at multiple laboratories prior to the enforcement of patents. By 2007, however, Bio-Rad, Limited, acquired the key intellectual property and sub-licensed it widely. In part because of broad, non-exclusive licensing, there are now multiple providers and testing technologies, and research continues. This case study illustrates how both changes in intellectual property ownership and evolving clinical utility of HFE genetic testing in the last decade have effected the licensing of patents and availability of genetic testing.