Suppr超能文献

临床实践中的再次接触:英国临床遗传学服务调查

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.

作者信息

Carrieri Daniele, Lucassen Anneke M, Clarke Angus J, Dheensa Sandi, Doheny Shane, Turnpenny Peter D, Kelly Susan E

机构信息

Egenis, University of Exeter, Exeter, UK.

Faculty of Medicine, University of Southampton, Southampton, UK.

出版信息

Genet Med. 2016 Sep;18(9):876-81. doi: 10.1038/gim.2015.194. Epub 2016 Feb 18.

Abstract

PURPOSE

To ascertain whether and how recontacting occurs in the United Kingdom.

METHOD

A Web-based survey was administered online between October 2014 and July 2015. A link to the survey was circulated via an e-mail invitation to the clinical leads of the United Kingdom's 23 clinical genetics services, with follow-up with senior clinical genetics staff.

RESULTS

The majority of UK services reported that they recontact patients and their family members. However, recontacting generally occurs in an ad hoc fashion when an unplanned event causes clinicians to review a file (a "trigger"). There are no standardized recontacting practices in the United Kingdom. More than half of the services were unsure whether formalized recontacting systems should be implemented. Some suggested greater patient involvement in the process of recontacting.

CONCLUSION

This research suggests that a thorough evaluation of the efficacy and sustainability of potential recontacting systems within the National Health Service would be necessary before deciding whether and how to implement such a service or to create guidelines on best-practice models.Genet Med 18 9, 876-881.

摘要

目的

确定在英国是否以及如何进行再次联系。

方法

2014年10月至2015年7月期间进行了一项基于网络的在线调查。通过电子邮件邀请英国23家临床遗传学服务机构的临床负责人参与调查,并对高级临床遗传学工作人员进行了跟进。

结果

大多数英国服务机构报告称他们会再次联系患者及其家庭成员。然而,再次联系通常是在计划外事件促使临床医生查阅档案(“触发因素”)时以临时方式进行的。英国没有标准化的再次联系做法。超过一半的服务机构不确定是否应实施正式的再次联系系统。一些机构建议让患者更多地参与再次联系过程。

结论

这项研究表明,在决定是否以及如何实施此类服务或制定最佳实践模式指南之前,有必要对国民医疗服务体系内潜在的再次联系系统的有效性和可持续性进行全面评估。《遗传医学》18卷9期,876 - 881页。

相似文献

1
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.
Genet Med. 2016 Sep;18(9):876-81. doi: 10.1038/gim.2015.194. Epub 2016 Feb 18.
3
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.
4
Recontacting in medical genetics: the implications of a broadening knowledge base.
Hum Genet. 2022 May;141(5):1045-1051. doi: 10.1007/s00439-021-02353-5. Epub 2021 Aug 30.
5
Recontacting in clinical practice: the views and expectations of patients in the United Kingdom.
Eur J Hum Genet. 2017 Oct;25(10):1106-1112. doi: 10.1038/ejhg.2017.122. Epub 2017 Aug 2.
7
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1. Epub 2018 Oct 11.
8
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.
J Community Genet. 2022 Apr;13(2):193-199. doi: 10.1007/s12687-021-00570-z. Epub 2022 Jan 11.
9
Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.
Genet Med. 2015 Aug;17(8):668-78. doi: 10.1038/gim.2014.173. Epub 2014 Dec 11.

引用本文的文献

3
Recontact: a survey of current practices and BRCA1/2 testing in Japan.
J Hum Genet. 2023 Aug;68(8):551-557. doi: 10.1038/s10038-023-01149-x. Epub 2023 Apr 18.
4
Equity implications of patient-initiated recontact and follow-up in clinical genetics.
Eur J Hum Genet. 2023 May;31(5):495-496. doi: 10.1038/s41431-023-01341-9. Epub 2023 Mar 23.
5
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.
J Community Genet. 2022 Apr;13(2):193-199. doi: 10.1007/s12687-021-00570-z. Epub 2022 Jan 11.
7
Recontacting in medical genetics: the implications of a broadening knowledge base.
Hum Genet. 2022 May;141(5):1045-1051. doi: 10.1007/s00439-021-02353-5. Epub 2021 Aug 30.
8
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genet Med. 2021 Sep;23(9):1738-1745. doi: 10.1038/s41436-021-01197-8. Epub 2021 May 18.
10
Is there a duty to reinterpret genetic data? The ethical dimensions.
Genet Med. 2020 Mar;22(3):633-639. doi: 10.1038/s41436-019-0679-7. Epub 2019 Oct 15.

本文引用的文献

1
Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.
Genet Med. 2015 Aug;17(8):668-78. doi: 10.1038/gim.2014.173. Epub 2014 Dec 11.
3
The coming explosion in genetic testing--is there a duty to recontact?
N Engl J Med. 2011 Oct 13;365(15):1367-9. doi: 10.1056/NEJMp1107564.
5
Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK.
Public Health Genomics. 2010;13(4):235-45. doi: 10.1159/000279625. Epub 2010 Apr 15.
6
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
Eur J Hum Genet. 2008 Oct;16(10):1208-16. doi: 10.1038/ejhg.2008.93. Epub 2008 May 14.
8
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.
J Genet Couns. 2008 Jun;17(3):261-73. doi: 10.1007/s10897-007-9145-9. Epub 2008 Feb 12.
10
Duty to recontact: a legal harbinger?
Am J Med Genet. 2001 Nov 1;103(4):277.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验