Background:Inherited cardiac conditions present with a wide range of symptoms and may even result in sudden cardiac death. Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and treatment. In 2 previous cohort studies of 115 probands with a pathogenic variant, family uptake of genetic counseling was assessed in the first year(s) after test result disclosure to the proband. This study assesses uptake in these cohorts in the 14 to 23 years following disclosure.Methods:Uptake was determined retrospectively using patient records. First-degree relatives, and second-degree relatives of a deceased first-degree relative suspected of having an inherited cardiac condition, were considered eligible.Results:Of 717 eligible relatives (598 first-degree and 119 second-degree relatives), 60% attended genetic counseling. Most of them (68.6%) attended genetic counseling in the first year. A total of 98.4% of counseled relatives pursued predictive DNA testing. A total of 49.2% was identified as carrier. Median time between disclosure to the proband and counseling of relatives was 6 months (range: 0–187 months). Attending genetic counseling was observed more frequently in first-degree relatives, female relatives, primary arrhythmia syndromes, relatives with manifest inherited cardiac condition, relatives without children and families with sudden cardiac death in first-degree relatives <40 years.Conclusions:During median follow-up of 16 years, 60.0% of relatives attended genetic counseling, with 41.0% in the first year. Our results may suggest that some relatives are not or inadequately informed or that barriers against genetic counseling are present. Further research is needed into interventions facilitating family communication, increasing awareness among families and healthcare professionals, and lowering thresholds for genetic counseling.

中文翻译：

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遗传性心脏病中遗传咨询和预测性 DNA 检测的长期随访研究

背景：遗传性心脏病表现出多种症状，甚至可能导致心源性猝死。建议具有确诊致病性遗传变异的先证者亲属进行预测性 DNA 检测，以进行预防和治疗。在之前对 115 名具有致病性变异的先证者进行的 2 项队列研究中，在向先证者披露测试结果后的第一年评估了家族对遗传咨询的接受程度。该研究评估了这些队列在披露后 14 至 23 年内的吸收情况。方法：使用患者记录回顾性确定吸收情况。一级亲属和疑似患有遗传性心脏病的已故一级亲属的二级亲属被认为符合条件。 结果：717 名符合条件的亲属（598 名一级亲属和119 名二级亲属），60% 参加了遗传咨询。他们中的大多数（68.6%）在第一年就接受了遗传咨询。共有 98.4% 接受咨询的亲属进行了预测性 DNA 检测。共有 49.2% 被确定为携带者。向先证者披露和亲属咨询之间的中位时间为 6 个月（范围：0-187 个月）。一级亲属、女性亲属、原发性心律失常综合征、有明显遗传性心脏病的亲属、无子女的亲属和一级亲属心脏性猝死<40岁的家庭参加遗传咨询的频率更高。结论：中位随访期间- 16年以来，60.0%的亲属参加了遗传咨询，第一年为41.0%。我们的结果可能表明，一些亲属没有或不充分了解情况，或者存在遗传咨询的障碍。需要进一步研究促进家庭沟通的干预措施，提高家庭和医疗保健专业人员的意识，并降低遗传咨询的门槛。