The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
复制标题
遗传生物库与患者组织之间的联盟：遗传生物库的Telethon网络的经验。
DOI：
10.1186/s13023-016-0527-7
复制
发表时间：
2016-10-24
影响因子：
3.7
通讯作者：
Filocamo M
中科院分区：
文献类型：
--
作者：
Baldo C;Casareto L;Renieri A;Merla G;Garavaglia B;Goldwurm S;Pegoraro E;Moggio M;Mora M;Politano L;Sangiorgi L;Mazzotti R;Viotti V;Meloni I;Pellico MT;Barzaghi C;Wang CM;Monaco L;Filocamo M
罕见疾病（RD）经常被忽视，因为它们影响一小部分人群（6- 8%），这使得新疗法的研究和开发具有挑战性。因此，容易获得高质量的样本和相关的临床数据是生物医学研究的关键先决条件。在这种情况下，遗传生物库对于发展RD的基础，转化和临床研究至关重要。Telethon遗传生物库网络（TNGB）意识到生物库作为患者服务的重要性，并通过促进专门会议和圆桌会议以及将其代表纳入TNGB咨询委员会，开始与RD患者组织进行对话。这使得参与组织能够积极参与起草生物库政策和程序，包括涉及伦理问题的政策和程序。在这里，我们报告我们的经验与RD患者组织谁要求现有的生物银行属于TNGB的服务，并描述这些关系是如何建立，正式化和维护。患者参与的过程已被证明是成功的两个外行成员，谁增加了他们对生物库的复杂过程的理解，和专业人士，谁获得了有关人员的需求和期望的认识。这种合作导致患者组织对生物库服务产生了真实的兴趣，这导致了13份旨在正式确定这一过程的书面协议。这些协议使罕见遗传病生物标本及其相关数据得以集中，从而使科学界能够获得这些标本。TNGB的经验已被证明是患者参与生物库的良好做法的一个例子，并可作为疾病导向的生物库和患者组织之间的合作模式。这种合作有助于提高认识和信任，并鼓励科学界开展研究危险药物的工作。本文的在线版本（doi：10.1186/s13023-016-0527-7）包含补充材料，可供授权用户使用。
Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to address research on RDs. The online version of this article (doi:10.1186/s13023-016-0527-7) contains supplementary material, which is available to authorized users.
登录
查看更多内容
影响因子：
3.7
作者：
Filocamo M;Baldo C;Goldwurm S;Renieri A;Angelini C;Moggio M;Mora M;Merla G;Politano L;Garavaglia B;Casareto L;Bricarelli FD;Telethon Network of Genetic Biobanks Staff
通讯作者：
Telethon Network of Genetic Biobanks Staff
DOI：
10.1038/ejhg.2014.81
发表时间：
2015-02
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
2.4
作者：
Dauda, Bege;Denier, Yvonne;Dierickx, Kris
通讯作者：
Dierickx, Kris
影响因子：
--
作者：
Rabeharisoa, V;Callon, M
通讯作者：
Callon, M
影响因子：
5
作者：
Monaco, Lucia;Crimi, Marco;Wang, Chiuhui Mary
通讯作者：
Wang, Chiuhui Mary