“这是我治疗的重要组成部分”:一项关于挪威乳腺癌患者接受主流基因检测经历的定性研究。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2022-02-05 DOI:10.1186/s13053-022-00212-6
Nina Strømsvik, Pernilla Olsson, Berit Gravdehaug, Hilde Lurås, Ellen Schlichting, Kjersti Jørgensen, Teresia Wangensteen, Tone Vamre, Cecilie Heramb, Lovise Mæhle, Eli Marie Grindedal
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引用次数: 3

摘要

背景:在挪威东南部,治疗乳腺癌的外科医生或肿瘤科医生会为乳腺癌患者提供BRCA1和BRCA2基因检测。遗传学家或遗传咨询师的遗传咨询只提供给那些致病变异检测呈阳性或有癌症家族史的人。这种做法被称为“主流基因检测”。本研究的目的是了解患者对这种医疗保健服务的体验。方法:对2016年上半年或2017年上半年在一所地区医院和一所大学医院确诊的22例乳腺癌患者进行定性深入访谈,并由其治疗医师提供检测。采用了六阶段专题方法来分析数据。结果:参与者对如何以及何时提供测试有不同的体验。分析中出现了三个主要主题:1。2.混乱时期的信息和沟通需求与挑战。3.基因检测的价值;标准化程序对主流基因检测的重要性。结论:尽管他们的诊断结果令人震惊,并且他们在如何以及何时提供检测方面有不同的经历,但所有参与者都强调基因检测是他们诊断和治疗的重要组成部分。我们的研究结果表明,有必要在遗传学家、外科医生、肿瘤学家和实验室专家之间进行持续的合作,以建立简单而有力的常规,以确保所有符合条件的乳腺癌患者都能在测试结果对治疗产生影响的时候接受测试。
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"It was an important part of my treatment": a qualitative study of Norwegian breast Cancer patients' experiences with mainstreamed genetic testing.

Background: In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic variant or have a family history of cancer. This practice is termed "mainstreamed genetic testing". The aim of this study was to learn about patients' experience of this healthcare service.

Methods: Qualitative in-depth interviews were conducted with 22 breast cancer patients who had been diagnosed during the first half of 2016 or 2017 at one regional and one university hospital and who had been offered testing by their treating physician. A six-phase thematic approach was used to analyse the data.

Results: The participants had varied experiences of how and when testing was offered. Three main themes emerged from the analysis: 1. informational and communicational needs and challenges during a chaotic time, 2. the value of genetic testing and 3. the importance of standardised routines for mainstreamed genetic testing.

Conclusions: Despite the shock of their diagnosis and the varying experiences they had in respect of how and when testing was offered, all of the participants emphasised that genetic testing had been an important part of their diagnosis and treatment. Our results indicate that there is a need for continuous collaboration between geneticists, surgeons, oncologists and laboratory specialists in order to establish simple and robust routines so as to ensure that all eligible breast cancer patients are offered testing at a point when the test result can have an impact on treatment.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review. PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants. Blood molybdenum level as a marker of cancer risk on BRCA1 carriers Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions. Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.
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