Evidence map›Paper›PMID 28952070›Full record

ArticleJournal of community genetics2018

The challenges of the expanded availability of genomic information: an agenda-setting paper.

Pascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, Martina C Cornel, Heidi Carmen Howard, Oliver Feeney, Leigh Jackson, Deborah Mascalzoni, Álvaro Mendes, Borut Peterlin and 7 more

Abstract read
In one paragraph

Article in Journal of community genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing 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

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

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Building a large gene expression-cancer knowledge base with limited human annotations.Database : the journal of biological databases and curation · 2023
    Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022
    Article
  17. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022
    Article
  18. PromisingFrontiers in immunology · 2022
    Review
  19. Review
  20. Article
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

17 authors.

Pascal BorryCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium. pascal.borry@med.kuleuven.be.ORCID http://orcid.org/0000-0002-4931-9560
Heidi Beate BentzenCentre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.
Isabelle Budin-LjøsneNorwegian Cancer Genomics Consortium, Oslo, Norway.
Martina C CornelDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, the Netherlands.
Heidi Carmen HowardCentre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
Oliver FeeneyCentre of Bioethical Research and Analysis (COBRA), National University of Ireland (Galway), Galway, Republic of Ireland.
Leigh JacksonRILD Building, Royal Devon and Exeter Hospital, University of Exeter Medical School, Exeter, UK.
Deborah MascalzoniCentre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
Álvaro Mendesi3S, Instituto de Investigação e Inovação em Saúde, IBMC-UnIGENe and Centre for Predictive and Preventive Genetics, Universidade do Porto, Porto, Portugal.
Borut PeterlinClinical Institute of Medical Genetics, University Medical Center Ljubljana, Šlajmerjeva 4, 1000, Ljubljana, Slovenia.
Brigida RisoInstituto Universitário de Lisboa (ISCTE-IUL), CIES-IUL, Lisbon, Portugal.
Mahsa ShabaniCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
Heather SkirtonFaculty of Health and Human Sciences, University of Plymouth, Drake Circus, Plymouth, PL4 8AA, UK.
Sigrid SterckxBioethics Institute Ghent, Ghent University, Blandijnberg 2, 9000, Ghent, Belgium.
Danya VearsCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
Matthias WjstHelmholtz Center Munich, National Research Centre for Environmental Health, Institute of Lung Biology and Disease, Munich, Germany.
Heike FelzmannCentre of Bioethical Research and Analysis (COBRA), National University of Ireland (Galway), Galway, Republic of Ireland.

Funding

Biobank Norway funded by The Research Council of Norway 245464CHIP ME COST Action IS1303Grant Agreement 305444Legal Regulation of Information Processing relating to Personalized Cancer Medicine funded by The Research Council of Norway BIOTEK2021/238999National Research and Innovation Platform for Personalized Cancer Medicine funded by The Research Council of Norway NFR BIOTEK2021/ES495029Portuguese Foundation for Science and Technology SFRH/BD/100779/2014Swedish Foundation for Humanities and Social Science M13-0260:1)The Portuguese Foundation for Science and Technology SFRH/BPD/88647/2012
6 · The paper itself

Abstract

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 "Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives," participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area.

Indexed as

Clinical and research genomic dataData sharingDirect-to-consumer genetic testingGenomicsInformed consentReturn of results

Identifiers

PMID28952070
PMCPMC5849701

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.