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

Abstract

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.

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

“…In contrast, with a WES/WGS approach, the entire genomic profile may be stored from the beginning of a person’s life. Examples of extensive genomic databases like deCODE genetics Iceland show that holding this data has numerous ethical implications, e.g., how to deal with the stored information on carriership of the breast cancer genes BRCA-1 and BRCA-2 and whether to inform and screen affected individuals [ 52 , 53 , 54 , 55 ]. In an implementation trajectory, privacy and genomic data protection have to be ensured by strict governmental legislation.…”

Increased use of genetic health care in Iceland 2012-2017

“…Þar gat fólk leitað upplýsinga um hvort það baeri meinvaldandi breytinguna c.771_775del (betur þekkt sem 999del5) í BRCA2-geni. 7 Eftir því sem höfundar vita best er þetta fyrsta samantekt á Íslandi á niðurstöðum erfðarannsókna sem gerðar hafa verið í tengslum við erfðaráðgjöf. Hún naer yfir 5 ára tímabil (2012-2017).…”

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“…Given the different setting, premature extrapolations from (mostly reassuring) psychological research in carriers in affected families should be avoided. Though some recent studies of the psychological impact of receiving 'positive' SFs were to some extent reassuring [42][43][44], more research is needed. These questions are even more important if OGS would be offered at a time when patients are trying to cope, deal with and give meaning to the totally different genetic problem for which they are having indicated clinical sequencing for example, sequencing after sudden cardiac death in a child.…”