Intellectual Property and Access to Noninvasive Prenatal Genetic Testing

描述(由申请人提供)：这项研究的目的是提供关于知识产权和商业化对无创产前基因检测(NIPT)临床翻译的影响的经验数据，并确定临床采用和患者接触的潜在障碍。无细胞胎儿DNA遗传分析技术的进步可能使NIPT成为常规。早期临床试验表明，基于测序的染色体非整倍体NIPT检测比目前使用的非侵入性筛查检测更准确。最近，一种针对唐氏综合症的商业NIPT测试问世，常见遗传疾病的测试也有望实现。现在就知道这些测试的临床效用和成本效益还为时过早。然而，NIPT可以显著改变产前检测和筛查的范式，并有可能降低成本。知识产权(IP)和商业化有望成为有关此类技术何时以及如何进入临床实践的新辩论的重要组成部分。知识产权可以吸引在研发、监管批准和确保第三方付款方面的商业投资。但独家知识产权也可能阻碍创新，增加测试开发商和提供商的交易成本，并减少患者访问，特别是在出现垄断的情况下。事实上，基础NIPT技术的专利已经被独家授权给了公司，这引发了这样的担忧。商业格局正在迅速演变，公司已经卷入了专利诉讼。这些专利的处置可能决定谁可以提供测试以及将占上风的商业模式，这反过来可能会影响临床采用和患者接触。NIPT的知识产权格局看起来很复杂，也不清楚。关于知识产权与非知识产权因素对临床采用率和患者获得NIPT的影响的利益相关者的看法，也几乎没有数据可用。这项研究将通过以下具体目标解决这些差距：1)绘制与NIPT相关的知识产权图，并评估知识产权对开发新的NIPT基因测试的潜在影响；2)根据利益相关者的观点，确定临床采用和患者准入的知识产权壁垒并对其进行排名；以及3)确定PATET准入潜在壁垒的伦理和政策影响。一个由遗传学、知识产权法、卫生政策、生物伦理学、卫生经济学、母婴医学和卫生法专业知识组成的多学科研究团队将使用既定的定性研究方法，并结合法律、伦理和政策分析。这项研究的一个结果将是对IP是否以及如何影响患者获得NIPT基因检测进行仔细的实证分析。这一分析将通过我们将创建的NIPT技术的公开可用的知识产权和商业化环境来实现。另一个预期结果是对临床采用和患者接触障碍的预测，按利益相关者排名。研究结束时的研讨会将包括相关领域的利益相关者代表、团体和专家，以确定减少临床翻译障碍和促进患者获得NIPT的方法和政策优先事项。

DESCRIPTION (provided by applicant): The purpose of this study is to provide empirical data on effects of intellectual property (IP) and commercialization on clinical translation of noninvasive prenatal genetic testing (NIPT) and identify potential barriers to clinical adoption and patient access. Advances in technologies for genetic analysis of cell-free fetal DNA could make NIPT routine. Early clinical trials indicate that sequencing-based NIPT tests for chromosomal aneuploidies are more accurate than currently used noninvasive screening tests. A commercial NIPT test for Down Syndrome recently became available and tests for common genetic conditions are in prospect. It is still too early to know the clinical utility and cost effectiveness of these tests. Nevertheless, NIPT could significantly change the paradigm of prenatal testing and screening and potentialy even lower costs. Intellectual property (IP) and commercialization promise to be important components in the emerging debate about when and how such technologies should enter clinical practice. IP could induce commercial investment in R&D, in regulatory approval, and in securing third-party payment. But exclusive IP rights could also hamper innovation, increase transaction costs for test developers and providers, and decrease patient access, especially if monopolies emerge. Indeed patents on foundational NIPT technologies have been exclusively licensed to companies, raising such concerns. The commercial landscape is quickly evolving and companies are already involved in patent litigation. The disposition of these patents could determine who can offer the tests and the business models that will prevail, which in turn can impact clinical adoption and patient access. The IP landscape for NIPT appears complex and is unclear. Few if any data are also available on stakeholders' views about effects of IP vs non-IP factors on clinical adoption, and patient access to NIPT.. This study will address these gaps with the following specific aims: 1) map IP relevant to NIPT and assess potential IP effects on development of new NIPT genetic tests; 2) identify and rank IP versus non-IP barriers to clinical adoption and patient access based on stakeholders' views; and 3) identify ethical and policy implications of potential barriers to patiet access. A multidisciplinary team of researchers with expertise in genetics, IP law, health policy, bioethics, health economics, maternal and fetal medicine and health law will use established qualitative research methods combined with legal, ethical, and policy analysis. One outcome of this study will be a careful empirical analysis of whether and how IP can affect patient access to NIPT genetic testing. This analysis will be enabled by a publicly available IP and commercialization landscape for NIPT technologies that we will create. Another expected outcome is a forecast of barriers to clinical adoption and patient access ranked by stakeholders. A workshop at the conclusion of the study will include stakeholder representatives groups and experts from relevant domains to identify approaches and policy priorities for reducing barriers to clinical translation and promoting patient access to NIPT.