Evidence map›Paper›PMID 33704686›Full record

ArticleJournal of community genetics2021

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.

T Vrijenhoek, N Tonisson, H Kääriäinen, L Leitsalu, T Rigter

Abstract read
In one paragraph

Article in Journal of community genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
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  7. Article
  8. Rare diseases: past achievements and future prospects.Journal of community genetics · 2021
    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

5 authors.

T VrijenhoekDepartment of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
N TonissonEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
H KääriäinenFinnish Institute for Health and Welfare, Helsinki, Finland.
L LeitsaluEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
T RigterDepartment of Clinical Genetics, Section Community Genetics & Amsterdam Public Health Research Institute, Amsterdam University Medical Centre, Location VUmc, Amsterdam, The Netherlands. t.rigter@amsterdamumc.nl.ORCID http://orcid.org/0000-0002-6038-6289

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today's clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond rare disease diagnostics. When placed in a transition context-like we do here-clinical genetics is likely to become a fully integral part of future healthcare and clinical genetic expertise will be required increasingly outside traditional clinical genetic settings. We explore transition effects on the thinking (culture), organizing (structure), and performing (practice) in clinical genetics, taking genetic healthcare in Estonia, Finland, and the Netherlands as examples. Despite clearly distinct healthcare histories, all three countries have initially implemented genetic healthcare in a rather similar fashion: as a diagnostic tool for predominantly rare congenital diseases, with clinical geneticists as the main providers. Dynamics at different levels, such as emerging technologies, biobanks and data infrastructure, and legislative frameworks, may require development of a new system attuned with the demands and (historic) context of specific countries. Here, we provide an overview of genetic service provisions in Estonia, Finland, and the Netherlands to consider the impact of historic and recent events on prospective developments in genetic healthcare.

Identifiers

PMID33704686
PMCPMC7948164

What OpenQuestion holds

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LicenceCC BY
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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.