丹麦视网膜母细胞瘤成年幸存者的基因检测：初始诊断多年后基因检测的经验和影响研究。
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis.
机构信息
Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.
出版信息
Eur J Med Genet. 2022 Sep;65(9):104569. doi: 10.1016/j.ejmg.2022.104569. Epub 2022 Jul 15.
BACKGROUND
Survivors with heritable retinoblastoma (RB) face a high risk for second primary cancer and RB in their children. Knowledge of heredity can support second cancer surveillance, convey reproductive options or early diagnosis of RB in their offspring. Currently, all newly diagnosed Danish patients with RB are offered genetic testing, as opposed to a minority of survivors diagnosed before available DNA testing.
OBJECTIVE
To examine RB survivors' response to unsolicited contact, uptake of genetic testing, and RB1 variant detection rate, and to qualitatively evaluate the experience and overall impact of genetic testing for heritable RB.
METHODS
Genetically untested adult RB survivors were invited to receive genetic counseling, undergo genetic testing for heritable RB and complete an eye examination. The number of responses, uptake of genetic testing and genetic results are descriptively reported. Additionally, responding survivors participated in a qualitative interview study of the perceived impact of genetic testing. Interviews were audio-recorded, transcribed verbatim and thematically analyzed.
RESULTS
Among invited RB survivors, 58% responded. Of these, 88% opted for genetic counseling and genetic testing. A diagnosis of heritable RB was established in 23% of RB survivors. Interestingly, all of these survivors were unilaterally affected. Analysis of data from the interviews revealed three recurring themes regarding the impact of genetic counseling and testing several years after initial diagnosis: 'Risk of what?', 'Knowledge is important' and 'Impact of the result'. The possible risk ofsecond cancer and RB in their children was new knowledge for several participants; however, in general, the participants appreciated receiving genetic information and certainty about heredity. Accordingly, the impact of genetic counseling and testing was perceived in a positive way.
CONCLUSION
Overall, RB survivors valued the opportunity to receive genetic counseling and undergo genetic testing many years after diagnosis. Responding RB survivors appreciated the invitation to test, felt well-informed and described little decisional conflict regarding their decision-making, valuing the genetic information and certainty. Heritable RB was confirmed in 23% of the previously untested RB survivors. These individuals emphasized the value of knowing and being proactive regarding both reproduction and cancer risk.
背景
患有遗传性视网膜母细胞瘤（RB）的幸存者面临着第二原发癌和子女患 RB 的高风险。对遗传的了解可以支持第二癌症监测，传递生殖选择或早期诊断其子女的 RB。目前，所有新诊断的丹麦 RB 患者都接受基因检测，而不是少数在可用 DNA 检测前诊断的幸存者。
目的
检查 RB 幸存者对非邀约接触的反应、基因检测的接受率以及 RB1 变体的检出率，并定性评估遗传性 RB 基因检测的经验和总体影响。
方法
未接受基因检测的成年 RB 幸存者被邀请接受遗传咨询，接受遗传性 RB 的基因检测，并进行眼部检查。描述性报告了回应人数、基因检测的接受率和基因检测结果。此外，参与了一项关于基因检测对遗传性 RB 感知影响的定性访谈研究。访谈进行了录音、逐字记录，并进行了主题分析。
结果
在受邀的 RB 幸存者中，有 58%的人做出了回应。其中，88%的人选择了遗传咨询和基因检测。在 23%的 RB 幸存者中诊断出遗传性 RB。有趣的是，所有这些幸存者都是单侧受累。对访谈数据的分析揭示了关于在初始诊断后数年进行遗传咨询和测试的三个反复出现的主题：“风险是什么？”“知识很重要”和“结果的影响”。对于一些参与者来说，子女患第二癌和 RB 的可能风险是新知识；然而，一般来说，参与者赞赏获得遗传信息和对遗传的确定性。因此，遗传咨询和检测的影响被认为是积极的。
结论
总的来说，RB 幸存者在诊断多年后非常重视获得遗传咨询和基因检测的机会。做出回应的 RB 幸存者赞赏接受检测的机会，感到消息灵通，并描述了他们在决策方面几乎没有决策冲突，重视遗传信息和确定性。在之前未接受测试的 RB 幸存者中，有 23%的人确认患有遗传性 RB。这些人强调了了解和主动应对生殖和癌症风险的价值。
Zotero 插件