Evidence map›Paper›PMID 32523053›Full record

ArticleEuropean journal of human genetics : EJHG2020

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

Vigdis Stefansdottir, Eirny Thorolfsdottir, Hakon B Hognason, Christine Patch, Carla van El, Sabine Hentze, Christophe Cordier, Álvaro Mendes, Jon J Jonsson

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Vigdis StefansdottirDepartment of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland. vigdisst@landspitali.is.ORCID http://orcid.org/0000-0003-4451-3126
Eirny ThorolfsdottirDepartment of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.
Hakon B HognasonDepartment of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.
Christine PatchFlorence Nightingale Faculty, Nursing and Midwifery & Palliative Care, King's College London, London, UK.ORCID http://orcid.org/0000-0002-4191-0663
Carla van ElAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
Sabine HentzePraxis für Humangenetik, Mannheim, Germany.
Christophe CordierAssociation suisse des conseillers en génétique, c/o Anne Murphy, 26 rue de la Colline, 1205, Genève, Switzerland.ORCID http://orcid.org/0000-0001-7806-3501
Álvaro MendesUnIGENe 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.ORCID http://orcid.org/0000-0002-8766-7646
Jon J JonssonDepartment of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

DisclosureAdolescentAdultAgedAged, 80 and overBRCA2 ProteinEmotionsFemaleGenetic Carrier ScreeningGenetic CounselingHereditary Breast and Ovarian Cancer SyndromeHumansIcelandInternetMaleMiddle AgedBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID32523053
PMCPMC7784695

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.