Department of Clinical Genetics (L.M.v.d.H., M.O.v.T., J.P.v.T., I.C.), Amsterdam UMC, University of Amsterdam.
Netherlands Heart Institute, Utrecht (L.M.v.d.H.).
Circ Genom Precis Med. 2020 Oct;13(5):524-530. doi: 10.1161/CIRCGEN.119.002803. Epub 2020 Aug 14.
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.
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.
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.
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.
遗传性心脏疾病的症状多种多样，甚至可能导致心源性猝死。对于已确诊致病性基因突变的先证者的亲属，建议进行预测性 DNA 检测，以便进行预防和治疗。在之前对 115 名携带致病性基因突变的先证者进行的两项队列研究中，评估了在向先证者披露检测结果后的头几年内进行基因咨询的家族接受情况。本研究评估了在披露后 14 至 23 年内这些队列中的接受情况。
采用回顾性病历分析来确定接受情况。一级亲属和已故一级亲属的二级亲属（疑似患有遗传性心脏病）被认为符合条件。
在 717 名符合条件的亲属中（598 名一级亲属和 119 名二级亲属），有 60%的亲属接受了基因咨询。其中大多数（68.6%）在第一年接受了基因咨询。接受咨询的亲属中有 98.4%进行了预测性 DNA 检测。共有 49.2%的人被确定为携带者。从向先证者披露到对亲属进行咨询的中位数时间为 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、有明确遗传性心脏病的亲属、无子女的亲属和一级亲属<40 岁发生心源性猝死的家庭更常接受基因咨询。
在中位数为 16 年的随访中，有 60.0%的亲属接受了基因咨询，其中 41.0%在第一年接受了咨询。我们的研究结果表明，一些亲属没有得到或没有得到充分的信息，或者存在对基因咨询的障碍。需要进一步研究促进家庭沟通、提高家庭和医疗保健专业人员的认识以及降低基因咨询门槛的干预措施。
