Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
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DOI：
10.1038/s41431-018-0285-1
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发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
European Society of Human Genetics
中科院分区：
文献类型：
--
作者：
Carrieri D;Howard HC;Benjamin C;Clarke AJ;Dheensa S;Doheny S;Hawkins N;Halbersma-Konings TF;Jackson L;Kayserili H;Kelly SE;Lucassen AM;Mendes Á;Rial-Sebbag E;Stefánsdóttir V;Turnpenny PD;van El CG;van Langen IM;Cornel MC;Forzano F;European Society of Human Genetics
技术进步增加了基因组数据在研究和临床中的可用性。如果随着时间的推移，对数据重要性的解释发生变化，或出现新的信息，则会出现是否需要重新联系患者和/或家属的问题。欧洲人类遗传学学会（ESHG）的公共和专业政策委员会与英国和荷兰的研究小组一起，制定了关于重新接触的建议，经过公众咨询，已得到ESHG董事会的认可。在临床遗传学中，重新联系患者以更新与其诊断或既往基因检测相关的新的、具有临床意义的信息可能是合理的，并且在可能的情况下是可取的。关于应该触发再接触的信息类型的共识集中在其临床和个人效用上。在当前的医疗保健系统中，重新接触程序和政策的组织具有挑战性。它应该是可持续的，与先前获得的同意相称，并且是医疗保健提供者，实验室，患者和其他利益相关者之间的共同责任。需要最佳利用现有的有限临床资源。应考虑为再接触分配专用资源。最后，需要更多的证据，包括经济和实用的信息，以告知哪些策略提供了最具成本效益的使用医疗资源的再接触。
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.
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