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，特别是创始人致病性BRCA2变异； NM_000059.3：c.771_775del。为此，他们打开了网站 www.arfgerd.is。通过该网站获得阳性结果的个人将在雷克雅未克的 Landspitali 接受遗传咨询 (GC)。截至 2019 年 5 月底，超过 46,000 人（冰岛裔成年人的 19%）在该网站注册，352 人（0.77%）收到短信告知他们的阳性结果。其中，195 人 (55%) 联系了 GC 部门。此外，还有 129 名亲属要求进行 GC 和确认检测，总共 324 人。收集了各种信息，例如性别和年龄、变异的先验知识和感知的情绪影响。在该网站上的BRCA2阳性个体中，74 人 (38%) 事先了解家族中的致病性变异 (PV)。大多数人最初表达了担忧、焦虑或其他负面情绪，但后来许多人表达了对所获得知识的感激之情。男性占咨询者的 41%，而在常规遗传性乳腺癌和卵巢 (HBOC) 诊所中，男性比例不到 30%。对于忧心忡忡的咨询者来说，临床咨询似乎更能让他们放心。在本文中，我们向那些通过网站收到积极结果的人描述了一年的 GC 服务体验。这一经历提供了一个独特的机会来研究公众对从研究中返回遗传结果的成功方法的反应。