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

European Journal of Human Genetics : EJHG
Vigdis StefansdottirJon J Jonsson

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 br...Continue Reading

References

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Citations

Jan 15, 2021·Journal of Medical Ethics·Mackenzie GrahamUNKNOWN Northern European Returning Results Network
Nov 24, 2020·European Journal of Human Genetics : EJHG·Guido de WertUNKNOWN European Society of Human Genetics
Nov 16, 2021·Frontiers in Genetics·Heidi MarjonenKati Kristiansson

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arfgerd
is
deCODE

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