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
• Other Authors: 1Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland. [e-mail]. 2Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland. 3Florence Nightingale Faculty, Nursing and Midwifery & Palliative Care, King's College London, London, UK. 4Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam, the Netherlands. 5Praxis für Humangenetik, Mannheim, Germany. 6Association suisse des conseillers en génétique, c/o Anne Murphy, 26 rue de la Colline, 1205, Genève, Switzerland. 7Département de génétique, SYNLAB, Chemin d'Entre-Bois 21, 1018, Lausanne, Switzerland. 8UnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. 9Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavik 101, Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Publishing Group 2020
• Subjects: Brjóstakrabbamein; Erfðaráðgjöf; Erfðarannsóknir; Genes; BRCA2; Genetic Counseling; Iceland
• Online Access: http://hdl.handle.net/2336/621474; https://doi.org/10.1038/s41431-020-0665-1

To access publisher's full text version of this article click on the hyperlink below 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.