Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40 years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorders, birth defects, and neuropsychiatric conditions. This study surveyed 165 genetic counselors within the National Society of Genetic Counselors to assess their current approach to APA. t Tests, analysis of variance, logistic regression, and chi‐squared tests were performed on quantitative data, and content analysis was applied to qualitative data. Although most respondents have discussed APA with a patient (88%), there was no consensus on what age cutoff constitutes APA: >40 (N = 53, 37.9%), >45 (N = 61, 43.6%), >50 (N = 24, 17.1%), or >55 (N = 2, 1.4%). Those who discussed APA were more likely to be prenatal counselors, see more patients per week, be board certified, or be familiar with current APA guidelines. Respondents agreed the literature supports the association of APA with deleterious outcomes (mean agreement = 8.2, median = 8 on a 1 = strongly disagree to 10 = strongly agree). Individuals who discussed APA and were board certified had higher agreement. Content analysis confirmed agreement that the literature supports an association between APA and deleterious outcomes (documented in responses from 31.5% of prenatal respondents, 17.8% others) but noted that available testing and screening options for associated conditions are limited (34.4% of prenatal respondents, 17.4% others). Prenatal and non‐prenatal respondents reported similar agreement with the statement that APA is associated with deleterious outcomes. However, most non‐prenatal respondents were unfamiliar with current guidelines (80%), and presumably as a result, were also less likely to discuss APA with their patients. Our study identified a need to disseminate information regarding APA and current guidelines to genetic counselors, particularly non‐prenatal and those with less experience.

中文翻译：

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高龄父亲遗传咨询：遗传咨询师当前实践的调查

父亲的高龄 (APA) 没有正式的定义，尽管许多出版物使用父亲年龄大于 40 岁的临界值。文献表明 APA 与某些疾病之间存在关联，包括新发常染色体显性遗传疾病、出生缺陷和神经精神疾病。这项研究调查了美国国家遗传咨询师协会的 165 名遗传咨询师，以评估他们目前处理 APA 的方法。t检验、方差分析、逻辑回归和卡方检验对定量数据进行，内容分析应用于定性数据。尽管大多数受访者与患者 (88%) 讨论过 APA，但对于构​​成 APA 的年龄界限没有达成共识：>40 ( N  = 53, 37.9%), >45 ( N = 61, 43.6%), >50 ( N  = 24, 17.1%), 或 >55 ( N = 2, 1.4%)。那些讨论 APA 的人更有可能成为产前顾问，每周会见更多的病人，获得董事会认证，或者熟悉当前的 APA 指南。受访者同意文献支持 APA 与有害结果的关联（平均一致性 = 8.2，中位数 = 8 1 = 非常不同意，10 = 非常同意）。讨论 APA 并获得董事会认证的个人有更高的同意度。内容分析证实，文献支持 APA 与有害结果之间存在关联（记录在 31.5% 的产前受访者和 17.8% 的其他人的回答中），但指出相关疾病的可用检测和筛查选项有限（34.4% 的产前受访者， 17.4% 其他）。产前和非产前受访者对 APA 与有害结果相关的声明表示了类似的同意。然而，大多数非产前受访者不熟悉当前的指南 (80%)，因此据推测，他们也不太可能与患者讨论 APA。我们的研究确定需要向遗传咨询师，特别是非产前和经验较少的遗传咨询师传播有关 APA 和当前指南的信息。