Cardiovascular Rare Disease Node

心血管罕见疾病(CVRD)和遗传性心脏病(ICCs)是一个具有挑战性的健康负担，两者的总患病率至少为1/200，包括导致年轻人猝死的最常见原因和心脏移植的主要原因。除了对受影响的个人造成影响外，它们还给可能面临风险的家庭成员以及对受影响和未受影响的亲属提供长期监测的卫生系统造成重大负担。作为常规患者护理的一部分，使用医疗数据进行研究的机会可能会改变患有这些医学上重要疾病的人的诊断和治疗。然而，需要创新的解决方案来克服围绕数据访问和链接的现有挑战--而MRC CRVD节点将开发这些挑战。重要的是，这些解决方案还将使其他罕见疾病患者受益，因为ICC面临的许多挑战与其他疾病相同。ICCS患者报告称，参与研究是有回报和赋权的，但许多人没有获得研究机会。MRC CVRD节点将消除参与研究的障碍，简化同意程序，使常规医疗保健数据可用于研究，使潜在的研究参与者能够重新联系，并与作为研究合作伙伴的ICC患者建立持续的关系。NHS基因组医学服务为可扩展的研究提供了极好的机会。例如，一个由国际刑事法院中心组成的全国网络只集中在向英格兰和威尔士提供基因检测服务的四个实验室，通过非常有针对性的投资，提供了在全国范围内获得同意和获取数据的机会。ICC中的许多最紧迫的挑战可以使用已经存在但目前孤立的丰富数据存储库来解决。国家数据科学基础设施可以保存和处理这些数据，并提供新的临床和研究机会。MRC CVRD节点将提供释放这些机会的最终连接--为数据使用开发强大的动态同意程序，并连接关键的国家数据科学基础设施，包括英国心脏基金会数据科学中心(位于英国健康数据研究中心)、国家基因组研究图书馆(位于基因组英格兰)和国家疾病登记服务(位于NHS Digital)。治理挑战将集中解决，使单个研究小组摆脱连接不同健康数据源的挑战，新的针对罕见心脏病的可信研究环境将为经批准的真诚研究人员提供对丰富数据的安全访问。

Cardiovascular Rare Diseases (CVRD) and Inherited Cardiac Conditions (ICCs) represent a challenging health burden, with a combined prevalence of at least 1/200, including the commonest causes of sudden death in young adults and the leading causes of heart transplantation. In addition to their impact on affected individuals, they create a substantial burden for family members who may be at risk, and for health systems that provide long-term surveillance to both affected and unaffected relatives. Opportunities for research using healthcare data generated as part of routine patient care could transform the diagnosis and treatment of people with these medically important conditions. However, innovative solutions are needed to overcome existing challenges around data access and linkage - and the MRC CRVD node will develop these. Importantly, these solutions will also benefit people with other rare diseases, since many of the challenges faced in ICCs are shared with other conditions.Patients with ICCs report research participation as rewarding and empowering, yet many do not access research opportunities. The MRC CVRD node will remove barriers to research participation, streamlining consent processes to make routine health care data available for research, to enable recontact of potential research participants, and to build ongoing relationships with ICC patients as research partners.The NHS Genomic Medicine Service provides remarkable opportunities for scalable research. For example, a national network of ICC centres converge on just four laboratories that provide genetic testing services to England and Wales, providing an opportunity to obtain consent and capture data at national scale through very focused investment. Many of the most pressing challenges in ICCs could be addressed using the rich repositories of data that already exist but are currently siloed. National data science infrastructure could hold and process these data and present new clinical and research opportunities. The MRC CVRD node will provide the final connections to unlock these opportunities - developing robust dynamic consent procedures for data use, and linking key national data science infrastructure including the British Heart Foundation Data Science Centre (at Health Data Research UK), the National Genome Research Library (at Genomics England), and National Disease Registration Service (at NHS Digital). Governance challenges will be addressed centrally, freeing individual research groups from the challenges of linking diverse health data sources, and a new Trusted Research Environment for rare heart diseases will provide secure access to rich data for approved bona fide researchers.