There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is. Individuals who received positive results via the website were offered genetic counselling (GC) at Landspitali in Reykjavik. At the end of May 2019, over 46.000 (19% of adults of Icelandic origin) had registered at the website and 352 (0.77%) received text message informing them about their positive results. Of those, 195 (55%) contacted the GC unit. Additionally, 129 relatives asked for GC and confirmatory testing, a total of 324 individuals. Various information such as gender and age, prior knowledge of the variant and perceived emotional impact, was collected. Of the BRCA2 positive individuals from the website, 74 (38%) had prior knowledge of the pathogenic variant (PV) in the family. The majority initially stated worries, anxiety or other negative emotion but later in the process many communicated gratitude for the knowledge gained. Males represented 41% of counsellees as opposed to less than 30% in the regular hereditary breast and ovarian (HBOC) clinic. It appears that counselling in clinical settings was more reassuring for worried counsellees. In this article, we describe one-year experience of the GC service to those who received positive results via the website. This experience offers a unique opportunity to study the public response of a successful method of the return of genetic results from research.

返回研究结果的压力越来越大。在冰岛，deCODE Genetics 强调了将结果返回给研究参与者的重要性，尤其是创始人致病BRCA2变体；NM_000059.3:c.771_775del。为此，他们打开了网站 www.arfgerd.is。通过网站获得阳性结果的个人在雷克雅未克的 Landspitali 接受了遗传咨询 (GC)。到 2019 年 5 月末，超过 46.000（占冰岛裔成年人的 19%）在该网站上注册，352 人（0.77%）收到了短信，告知他们他们的阳性结果。其中 195 人 (55%) 联系了 GC 部门。此外，还有 129 名亲属要求进行 GC 和确认性检测，共计 324 人。收集了各种信息，例如性别和年龄、变体的先验知识和感知的情绪影响。在的BRCA2来自网站的阳性个体中，74 (38%) 人事先知道该家族中的致病性变异 (PV)。大多数人最初表示担心、焦虑或其他负面情绪，但后来在此过程中，许多人表达了对所获得知识的感激之情。男性占咨询对象的 41%，而在常规遗传性乳腺和卵巢 (HBOC) 诊所中，男性占不到 30%。临床环境中的咨询似乎让担心的咨询对象更放心。在这篇文章中，我们向那些通过网站获得积极结果的人描述了一年的 GC 服务经验。这种经验提供了一个独特的机会来研究公众对成功返回研究遗传结果方法的反应。