Web-based return of BRCA2 research results:one-year genetic counselling experience in Iceland

• Published in: European Journal of Human Genetics
• Main Authors: Stefansdottir, Vigdis, Thorolfsdottir, Eirny, Hognason, Hakon B., Patch, Christine, van El, Carla, Hentze, Sabine, Cordier, Christophe, Mendes, Álvaro, Jonsson, Jon J.
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2020
• Subjects: Iceland
• Online Access: https://kclpure.kcl.ac.uk/portal/en/publications/d0e7cb12-d41f-4a18-990d-36de129733a5; https://doi.org/10.1038/s41431-020-0665-1; http://www.scopus.com/inward/record.url?scp=85086239972&partnerID=8YFLogxK

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.