Abstract：
OBJECTIVE: We compared the rate of errors in genome sequencing (GS) result disclosures by genetic counselors (GC) and trained non-genetics healthcare professionals (NGHPs) in SouthSeq, a randomized trial utilizing GS in critically ill infants.
METHODS: Over 400 recorded GS result disclosures were analyzed for major and minor errors. We used Fisher\'s exact test to compare error rates between GCs and NGHPs and performed a qualitative content analysis to characterize error themes.
RESULTS: Major errors were identified in 7.5% of disclosures by NGHPs and in no disclosures by GCs. Minor errors were identified in 32.1% of disclosures by NGHPs and in 11.4% of disclosures by GCs. Although most disclosures lacked errors, NGHPs were significantly more likely to make any error than GCs for all result types (positive, negative, or uncertain). Common major error themes include omission of critical information, overstating a negative result, and overinterpreting an uncertain result. The most common minor error was failing to disclose negative secondary findings.
CONCLUSIONS: Trained NGHPs made clinically significant errors in GS result disclosures. Characterizing common errors in result disclosure can illuminate gaps in education to inform the development of future genomics training and alternative service delivery models.
METHODS: Over 400 recorded GS result disclosures were analyzed for major and minor errors. We used Fisher\'s exact test to compare error rates between GCs and NGHPs and performed a qualitative content analysis to characterize error themes.
RESULTS: Major errors were identified in 7.5% of disclosures by NGHPs and in no disclosures by GCs. Minor errors were identified in 32.1% of disclosures by NGHPs and in 11.4% of disclosures by GCs. Although most disclosures lacked errors, NGHPs were significantly more likely to make any error than GCs for all result types (positive, negative, or uncertain). Common major error themes include omission of critical information, overstating a negative result, and overinterpreting an uncertain result. The most common minor error was failing to disclose negative secondary findings.
CONCLUSIONS: Trained NGHPs made clinically significant errors in GS result disclosures. Characterizing common errors in result disclosure can illuminate gaps in education to inform the development of future genomics training and alternative service delivery models.
摘要：
目的：我们比较了SouthSeq中遗传咨询师（GC）和经过培训的非遗传医疗保健专业人员（NGHP）在基因组测序（GS）结果披露中的错误率，一项在危重患儿中使用GS的随机试验。
方法：分析了400多份记录的GS结果披露的主要和次要错误。我们使用Fisher的精确检验来比较GC和NGHP之间的错误率，并进行定性内容分析来表征错误主题。
结果：NGHP在7.5%的披露中发现了重大错误，GC没有披露。在32.1%的NGHP披露和11.4%的GC披露中发现了轻微错误。虽然大多数披露都没有错误，对于所有结果类型，NGHP比GC更有可能出错(正，负,或不确定)。常见的主要错误主题包括遗漏关键信息，夸大负面结果，过度解释一个不确定的结果。最常见的小错误是未能披露负面的次要发现。
结论：经过训练的NGHP在GS结果披露中出现了临床上显著的错误。表征结果披露中的常见错误可以阐明教育方面的差距，为未来基因组学培训和替代服务提供模型的发展提供信息。
方法：分析了400多份记录的GS结果披露的主要和次要错误。我们使用Fisher的精确检验来比较GC和NGHP之间的错误率，并进行定性内容分析来表征错误主题。
结果：NGHP在7.5%的披露中发现了重大错误，GC没有披露。在32.1%的NGHP披露和11.4%的GC披露中发现了轻微错误。虽然大多数披露都没有错误，对于所有结果类型，NGHP比GC更有可能出错(正，负,或不确定)。常见的主要错误主题包括遗漏关键信息，夸大负面结果，过度解释一个不确定的结果。最常见的小错误是未能披露负面的次要发现。
结论：经过训练的NGHP在GS结果披露中出现了临床上显著的错误。表征结果披露中的常见错误可以阐明教育方面的差距，为未来基因组学培训和替代服务提供模型的发展提供信息。
