Intellectual Property Challenges for the Development of Genomic Diagnostics

描述（由申请人提供）：本研究的目的是提供与DNA序列专利的专利和许可相关的经验数据和批判性分析，重点是基因组诊断。最近的调查数据表明，专利一般不会阻碍研究，但指出在诊断领域可能会出现问题。测序、基因分型和基因表达谱分析技术创造了新的基因组诊断类别，可以同时检测数千个基因的突变和变异，或表达水平差异。基因签名和药物遗传学诊断有望指导临床决策，管理常见的慢性疾病，如癌症，心脏病和糖尿病。其中一些测试最近已经进入市场，更多的测试正在进行临床试验。开发这样的测试带来了重大挑战，包括绘制复杂的知识产权格局和导航现有DNA序列专利的潜在丛林。在初步研究中，我们确定了可能被多基因诊断侵犯的DNA序列专利，如果严格执行，可能会阻止这些序列在多基因测试中的使用。从许多所有者那里找到并许可这些专利可能会被证明是困难和昂贵的，涉及多次许可谈判和堆叠的版税支付。虽然这些问题不是不可避免的，但我们最近的研究表明，它们可能会发展，这取决于什么是专利，什么是具体要求，如何严格和在什么条件下执行索赔。虽然公司肯定在研究这些问题，但关于这个话题的公开研究却少得可怜。为了解决这种数据缺乏的问题，我们将为几种多基因和表达谱诊断创建和分析IP景观，选择这些IP景观来代表正在进行的临床研究中正在研究的测试类型。我们的分析将从寻找专利和批判性地解释他们的主张开始。然后，我们将与利益相关者合作，确定知识产权在开发和商业化新型诊断方面的积极和消极影响。利益攸关方包括：（1）临床和基础研究人员，（2）开发诊断技术的公司，（3）开发平台技术的科学家，（4）许可证颁发官员和法律的专家，以及（5）消费者团体。我们还将分析与基因组发明的专利和许可有关的制度规范和实践，特别关注大学。学术研究机构拥有很大一部分基于DNA序列的专利，并且可能是重要的参与者，作为专利所有者，研究的贡献者和基因组测试的最终用户。我们最近对听力损失、心脏通道缺陷和共济失调综合征的多基因检测的研究表明，学术许可实践将在诊断发展中发挥至关重要的作用。这些数据将有助于理解（1）专利丛林是否存在以及它们如何发展，（2）如何使用现有的专利和许可指南，以及（3）如何完善DNA序列专利的专利和许可的规范和实践。 公共卫生相关性-本研究旨在提供与DNA序列专利的专利和许可相关的经验数据和批判性分析，重点是基因组诊断。我们将分析选择多基因和表达谱诊断的专利景观，以评估是否存在专利丛林以及它们如何影响测试开发。

DESCRIPTION (provided by applicant): The purpose of this study is to contribute empirical data and critical analysis relevant to patenting and licensing of DNA sequence patents, focusing on genomic diagnostics. Recent survey data suggest that patents have generally not impeded research, but note that problems may arise in the area of diagnostics. Technologies for sequencing, genotyping, and gene expression profiling have created new classes of genomic diagnostics that can simultaneously test thousands of genes for mutations and variations, or for expression level differences. Gene-signature and pharmacogenetic diagnostics promise to guide clinical decisions in management of common chronic diseases like cancer, heart disease and diabetes. Some of these tests have recently entered the market and many more are in clinical trials. Developing such tests poses significant challenges, including mapping a complex intellectual property landscape and navigating potential thickets of existing DNA-sequence patents. In preliminary studies, we identified patents claiming DNA sequences that might be infringed by multi-gene diagnostics and, if strictly enforced, could block the use of these sequences in multi-gene tests. Finding and licensing such patents from many owners could prove difficult and expensive, involving multiple license negotiations and stacked royalty payments. While these problems are not inevitable, our recent studies show they could develop depending on what is patented, what is specifically claimed, how strictly and under what conditions claims are enforced. While companies are surely examining these issues, there is remarkably little publicly available research on the topic. To address this dearth of data, we will create and analyze IP landscapes for several multi-gene and expression profile diagnostics, selected to represent the kinds of tests being studied in ongoing clinical research. Our analysis will start by finding patents and critically interpreting their claims. We will then engage stakeholders to determine positive and negative effects of IP in developing and commercializing novel diagnostics. Stakeholders include, (1) clinical and basic researchers, (2) firms developing diagnostics, (3) scientists developing platform technologies, (4) licensing officials and legal experts, and (5) consumer groups. We will also analyze institutional norms and practices related to patenting and licensing of genomic inventions, with special attention to universities. Academic research institutions own a large fraction of DNA-sequence based patents and are likely to be important players, as patent owners, contributors of research, and end users of genomic tests. Our recent studies of multi-gene tests for hearing loss, cardiac channel defects, and ataxia syndromes illustrate that academic licensing practices will play a crucial role in diagnostics development. Together these data will contribute to understanding (1) whether patent thickets exist and how they might develop, (2) how existing guidelines for patenting and licensing are being used, and (3) how to refine the norms and practices of patenting and licensing DNA sequence patents. PUBLIC HEALTH RELEVANCE - This study aims to contribute empirical data and critical analyses relevant to patenting and licensing of DNA sequence patents, focusing on genomic diagnostics. We will analyze patent landscapes for select multi-gene and expression-profile diagnostics to assess if patent thickets exist and how they impact test development.