BACKGROUND Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings. Discussion points include the practice of unintentionally identified IFs versus deliberately pursued SFs, patient opt-out possibilities and the spectrum of reportable findings. The heterogeneity of advice permits a non-standardised disclosure but research is lacking on actual reporting practices. Therefore, this study assessed national reporting practices for IFs and SFs in clinical ES and the underlying professional perspectives. METHODS A qualitative focus group study has been undertaken, including professionals from Belgian centres for medical genetics (CMGs). Data were analysed thematically. RESULTS All Belgian CMGs participated in this study. Data analysis resulted in six main themes, including one regarding the reporting criteria used for IFs. All CMGs currently use ES-based panel testing. They have limited experience with IFs in clinical ES and are cautious about the pursuit of SFs. Two main reporting criteria for IFs were referred to by all CMGs: the clinical significance of the IF (including pathogenicity and medical actionability) and patient-related factors (including the patient's preference to know and patient characteristics). The consensus over the importance of these criteria contrasted with their challenging interpretation and application. Points of concern included IFs' pathogenicity in non-symptomatic persons, IFs concerning variants of uncertain significance, the requirement and definition of medical actionability and patient opt-out possibilities. Finally, reporting decisions were guided by the interaction between the clinical significance of the IF and patient characteristics. This interaction questions the possible disclosure of findings with context-dependent and personal utility, such as IFs concerning a carrier status. To evaluate the IF's final relevance, a professional and case-by-case deliberation was considered essential. CONCLUSIONS The challenging application of reporting criteria for IFs results in diversified practices and policy perspectives within Belgian CMGs. This echoes international concerns and may have consequences for effective policy recommendations.

中文翻译：

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报告临床外显子组测序中偶然发现的标准-比利时基因中心关于专业实践和观点的焦点小组研究。

背景技术作为临床外显子组测序（ES）的潜在后果，附带的和次要的发现（IF和SF）正在进行讨论。国际政策文件对这些调查结果的报告有所不同。讨论的重点包括无意中发现IF与故意追求SF的实践，患者选择退出的可能性以及可报告结果的范围。建议的异质性允许进行非标准化的披露，但缺乏对实际报告实践的研究。因此，本研究评估了临床ES和相关专业观点中有关IF和SF的国家报告实践。方法进行了定性焦点小组研究，包括来自比利时医学遗传学中心（CMG）的专业人员。对数据进行了专题分析。结果所有比利时CMG都参加了这项研究。数据分析产生了六个主要主题，其中一个主题涉及用于国际论坛的报告标准。当前，所有CMG都使用基于ES的面板测试。他们在临床ES中使用IF的经验有限，并且对追求SF持谨慎态度。所有CMG均引用了IF的两个主要报告标准：IF的临床意义（包括致病性和医学可操作性）以及与患者相关的因素（包括患者对知识的了解和患者特征）。关于这些标准的重要性的共识与其具有挑战性的解释和应用形成了鲜明对比。关注点包括IF在非有症状人群中的致病性，IF的不确定性变体，医疗可操作性的要求和定义以及患者退出的可能性。最后，IF的临床意义与患者特征之间的相互作用指导了报告决策。这种互动对与上下文相关和个人效用的发现可能的披露提出了质疑，例如与携带者身份有关的IF。为了评估IF的最终相关性，必须进行专业且逐案的审议。结论IF的报告标准的挑战性应用导致比利时CMG内部的实践和政策观点多样化。这呼应了国际社会的关注，并可能对有效的政策建议产生影响。IF的临床意义与患者特征之间的相互作用指导了报告决策。这种互动对与上下文相关和个人效用的发现可能的披露提出了质疑，例如与携带者身份有关的IF。为了评估IF的最终相关性，必须进行专业且逐案的审议。结论IF的报告标准的挑战性应用导致比利时CMG内部的实践和政策观点多样化。这呼应了国际社会的关注，并可能对有效的政策建议产生影响。IF的临床意义与患者特征之间的相互作用指导了报告决策。这种互动对与上下文相关和个人效用的发现可能的披露提出了质疑，例如与携带者身份有关的IF。为了评估IF的最终相关性，必须进行专业且逐案的审议。结论IF的报告标准的挑战性应用导致比利时CMG内部的实践和政策观点多样化。这呼应了国际社会的关注，并可能对有效的政策建议产生影响。对于最终相关性，认为进行专业且逐案的讨论至关重要。结论IF的报告标准的挑战性应用导致比利时CMG内部的实践和政策观点多样化。这呼应了国际社会的关注，并可能对有效的政策建议产生影响。对于最终相关性，认为进行专业且逐案的讨论至关重要。结论IF的报告标准的挑战性应用导致比利时CMG内部的实践和政策观点多样化。这呼应了国际社会的关注，并可能对有效的政策建议产生影响。