Evidence map›Paper›PMID 36517584›Full record

ReviewEuropean journal of human genetics : EJHG2023

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.

Germán Andrés Alarcón Garavito, Thomas Moniz, Noémie Déom, Federico Redin, Amanda Pichini, Cecilia Vindrola-Padros

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 3 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

35 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026
    Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Review
  16. Review
  17. Contextual factors of implementing APOL1 genetic testing into living kidney donor clinical evaluation.Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2025
    Article
  18. Article
  19. Article
  20. Implementing genomic medicine in New Zealand.Journal of the Royal Society of New Zealand · 2025
    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

6 authors.

Germán Andrés Alarcón GaravitoRapid Research Evaluation and Appraisal Lab (RREAL), University College London, 43-45 Foley Street, W1W 7TY, London, UK.ORCID http://orcid.org/0000-0002-2856-4356
Thomas MonizRapid Research Evaluation and Appraisal Lab (RREAL), University College London, 43-45 Foley Street, W1W 7TY, London, UK.
Noémie DéomRapid Research Evaluation and Appraisal Lab (RREAL), University College London, 43-45 Foley Street, W1W 7TY, London, UK.
Federico RedinRapid Research Evaluation and Appraisal Lab (RREAL), University College London, 43-45 Foley Street, W1W 7TY, London, UK.
Amanda PichiniGenomics England, London, UK.ORCID http://orcid.org/0000-0002-1776-562X
Cecilia Vindrola-PadrosRapid Research Evaluation and Appraisal Lab (RREAL), University College London, 43-45 Foley Street, W1W 7TY, London, UK. c.vindrola@ucl.ac.uk.ORCID http://orcid.org/0000-0001-7859-1646

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic healthcare programmes, both in a research and clinical context, have demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However, implementation factors could increase overall costs and affect uptake. As well, uncertainties remain regarding effective training, guidelines and legislation. The purpose of this rapid evidence review was to draw together the available global evidence on the implementation of genomic testing programmes, particularly on population-based screening and diagnostic programmes implemented at the national level, to understand the range of factors influencing implementation. This review involved a search of terms related to genomics, implementation and health care. The search was limited to peer-reviewed articles published between 2017-2022 and found in five databases. The review included thirty articles drawing on sixteen countries. A wide range of factors was cited as critical to the successful implementation of genomics programmes. These included having policy frameworks, regulations, guidelines; clinical decision support tools; access to genetic counselling; and education and training for healthcare staff. The high costs of implementing and integrating genomics into healthcare were also often barriers to stakeholders. National genomics programmes are complex and require the generation of evidence and addressing implementation challenges. The findings from this review highlight that there is a strong emphasis on addressing genomic education and engagement among varied stakeholders, including the general public, policymakers, and governments. Articles also emphasised the development of appropriate policies and regulatory frameworks to govern genomic healthcare, with a focus on legislation that regulates the collection, storage, and sharing of personal genomic data.

Indexed as

Genetic Diseases, InbornGenomicsHumans

Identifiers

PMID36517584
PMCPMC9995480

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.