Evidence map›Paper›PMID 33574068›Full record

ReviewBMJ global health2021

Availability and funding of clinical genomic sequencing globally.

Kathryn A Phillips, Michael P Douglas, Sarah Wordsworth, James Buchanan, Deborah A Marshall

Open access · goldAbstract readReview
In one paragraph

Review in BMJ global health, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
10.7field-weighted citation impact, top 1% of its field
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

56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Aetiology, characteristics and workup of early onset high myopia.The British journal of ophthalmology · 2026
    Article
  4. The two souls of pathology-ready for biomarker complexity.Virchows Archiv : an international journal of pathology · 2026
    Article
  5. Article
  6. Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  7. Article
  8. Review
  9. Institutional and Regional Variations in Access to Clinical Trials and Next-Generation Sequencing in Turkish Oncology Centers.Medical science monitor : international medical journal of experimental and clinical research · 2026
    Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Distributional Cost-Effectiveness Analysis in Genomic Medicine: Considerations for Addressing Health Equity.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2025
    Article
  19. Article
  20. 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

5 authors at 3 institutions in 3 countries.

Kathryn A PhillipsUCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS); Department of Clinical Pharmacy, University of California San Francisco, San Francisco, California, USA kathryn.phillips@ucsf.edu.ORCID 0000-0003-0822-4968
Michael P DouglasUCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS); Department of Clinical Pharmacy, University of California San Francisco, San Francisco, California, USA.
Sarah WordsworthHealth Economics Research Centre, Nuffield Department of Population Health, National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, Oxfordshire, UK.
James BuchananHealth Economics Research Centre, Nuffield Department of Population Health, National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, Oxfordshire, UK.
Deborah A MarshallDepartment of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
National Institute for Health Research · GBUniversity of California, San Francisco · USUniversity of Calgary · CA

Funding

Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
Coverage, Price, and Reimbursement for Multigene Tests for Cancer and Related ConditionsR01CA221870 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PHILLIPS, KATHRYN A · 2018 to 2020
$2.2M
NCI NIH HHS R01 CA221870NHGRI NIH HHS U01 HG009599
6 · The paper itself

Abstract

The emergence of next-generation genomic sequencing (NGS) tests for use in clinical care has generated widespread interest around the globe, but little is known about the availability and funding of these tests worldwide. We examined NGS availability across world regions and countries, with a particular focus on availability of three key NGS tests-Whole-Exome Sequencing or Whole-Genome Sequencing for diagnosis of suspected genetic diseases such as intellectual disability disorders or rare diseases, non-invasive prenatal testing for common genetic abnormalities in fetuses and tumor sequencing for therapy selection and monitoring of cancer treatment. We found that these NGS tests are available or becoming available in every major region of the world. This includes both high-income countries with robust genomic programmes such as the USA and the UK, and growing availability in countries with upper-middle-income economies. We used exploratory case studies across three diverse health care systems (publicly funded/national (UK), publicly funded/provincial (Canada) and mixed private/public system (USA)) to illustrate the funding challenges and approaches used to address those challenges that might be adopted by other countries. We conclude by assessing what type of data and initiatives will be needed to better track and understand the use of NGS around the world as such testing continues to expand.

Indexed as

GenomicsHigh-Throughput Nucleotide SequencingDelivery of Health CareExome SequencingFemaleHumansPregnancyhealth policyhealth services research

Identifiers

PMID33574068
PMCPMC7880109
OpenAlexW3126692631

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.