Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Department of Gynecology and Obstetrics, Medizinisches Zentrum Bonn Friedensplatz, Bonn, Germany.
Breast Cancer Res Treat. 2023 Jan;197(2):355-368. doi: 10.1007/s10549-022-06795-x. Epub 2022 Nov 21.
The PRAEGNANT study is a registry study for metastatic breast cancer patients, focusing on biomarker detection. Recently, within this study, genetic alterations in 37 breast cancer predisposition genes were analyzed and genetic findings were detected for 396 participants. The aim of this project was to return genetic results to the physicians and to analyze actions taken (e.g., disclosure of results to patients, validation of results, clinical impact, and impact on the patient's quality of life) using a questionnaire.
235 questionnaires were sent out to the study centers, with each questionnaire representing one patient with a genetic finding. The questionnaire consisted of twelve questions in the German language, referring to the disclosure of results, validation of test results, and their impact on treatment decisions and on the patient's quality of life.
135 (57.5%) questionnaires were completed. Of these, 46 (34.1%) stated that results were returned to the patients. In 80.0% (N = 36) of cases where results were returned, the patient had not been aware of the finding previously. For 27 patients (64.3%), genetic findings had not been validated beforehand. All validation procedures (N = 15) were covered by the patients' health insurance. For 11 (25.0%) patients, physicians reported that the research results influenced current or future decision-making on treatment, and for 37.8% (N = 17) the results influenced whether family members will be genetically tested.
This study provides novel insights into the return of research results and into clinical and personal benefits of disclosure of genetic findings within a German registry.
PRAEGNANT 研究是一项转移性乳腺癌患者的注册研究，重点是生物标志物检测。最近，在这项研究中，分析了 37 个乳腺癌易感性基因的遗传改变，并对 396 名参与者进行了遗传检测。本项目的目的是将遗传检测结果返还给医生，并通过问卷调查分析所采取的措施（例如，将结果告知患者、验证结果、对治疗决策的临床影响以及对患者生活质量的影响）。
向研究中心发送了 235 份问卷，每份问卷代表一位有遗传发现的患者。问卷由 12 个问题组成，用德语表述，涉及结果披露、检测结果验证及其对治疗决策和患者生活质量的影响。
完成了 135 份（57.5%）问卷。其中，46 份（34.1%）表示将结果返还给了患者。在返还结果的 80.0%（N=36）的病例中，患者之前并不知道该发现。对于 27 名（64.3%）患者，之前并未对遗传发现进行验证。所有验证程序（N=15）均由患者的健康保险覆盖。11 名（25.0%）医生报告称，研究结果影响了当前或未来的治疗决策，37.8%（N=17）的结果影响了是否对家庭成员进行基因检测。
本研究提供了有关德国注册研究中遗传发现披露的研究结果返还以及临床和个人获益的新见解。
