Evidence map›Paper›PMID 38783891›Full record

ArticleHealth affairs scholar2024

Paving the path for implementation of clinical genomic sequencing globally: Are we ready?

Deborah A Marshall, Nicolle Hua, James Buchanan, Kurt D Christensen, Geert W J Frederix, Ilias Goranitis, Maarten Ijzerman, Jeroen P Jansen, Tara A Lavelle, Dean A Regier and 5 more

Abstract read
In one paragraph

Article in Health affairs scholar, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

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

  1. Pooled it
  2. Review
  3. Article
  4. Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals.Translational vision science & technology · 2026
    Article
  5. 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
  6. Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  7. Review
  8. Review
  9. Article
  10. Review
  11. 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

15 authors.

Deborah A MarshallDepartment of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta T2N 4Z6, Canada.ORCID https://orcid.org/0000-0002-8467-8008
Nicolle HuaDepartment of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta T2N 4Z6, Canada.ORCID https://orcid.org/0009-0007-9472-901X
James BuchananHealth Economics and Policy Research Unit, Centre for Evaluation and Methods, Wolfson Institute of Population Health, Queen Mary University of London, London E1 2AB, United Kingdom.ORCID https://orcid.org/0000-0003-2528-0638
Kurt D ChristensenPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, United States.ORCID https://orcid.org/0000-0003-4068-776X
Geert W J FrederixEpidemiology and Health Economics, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, 3584 CG Utrecht, The Netherlands.
Ilias GoranitisHealth Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Victoria 3010, Australia.ORCID https://orcid.org/0000-0001-7946-8324
Maarten IjzermanUniversity of Melbourne Centre for Cancer Research, University of Melbourne, Melbourne, Victoria 3000, Australia.ORCID https://orcid.org/0000-0001-5788-5805
Jeroen P JansenCenter for Translational and Policy Research on Precision Medicine (TRANSPERS), Department of Clinical Pharmacy, School of Pharmacy, University of California, San Francisco, San Francisco, CA 94158, United States.ORCID https://orcid.org/0000-0003-2686-9217
Tara A LavelleCenter for the Evaluation of Value and Risk in Health, Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA 02111, United States.ORCID https://orcid.org/0000-0003-1212-6973
Dean A RegierCanadian Centre for Applied Research in Cancer Control, Cancer Control Research, BC Cancer Research Institute, Vancouver, British Columbia V5Z 1L3, Canada.ORCID https://orcid.org/0000-0001-8876-0511
Hadley S SmithPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, United States.ORCID https://orcid.org/0000-0003-1247-6535
Wendy J UngarProgram of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario M5G 0A4, Canada.ORCID https://orcid.org/0000-0002-0762-0101
Deirdre WeymannSchool of Population and Public Health, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada.ORCID https://orcid.org/0000-0002-3072-5657
Sarah WordsworthHealth Economics Research Centre, Nuffield Department of Population Health and NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 7LF, United Kingdom.ORCID https://orcid.org/0000-0002-2361-3040
Kathryn A PhillipsCenter for Translational and Policy Research on Precision Medicine (TRANSPERS), Department of Clinical Pharmacy, School of Pharmacy, University of California, San Francisco, San Francisco, CA 94158, United States.ORCID https://orcid.org/0000-0003-0822-4968

Funding

BUILDING THE EVIDENCE BASE FOR APPROPRIATE AND EFFICIENT IMPLEMENTATION OF EMERGING GENOMIC TESTS FOR DISEASE MANAGEMENT AND SCREENINGR01HG011792 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PHILLIPS, KATHRYN A · 2021 to 2025
$4.6M
NHGRI NIH HHS R01 HG011792
6 · The paper itself

Abstract

Despite the emerging evidence in recent years, successful implementation of clinical genomic sequencing (CGS) remains limited and is challenged by a range of barriers. These include a lack of standardized practices, limited economic assessments for specific indications, limited meaningful patient engagement in health policy decision-making, and the associated costs and resource demand for implementation. Although CGS is gradually becoming more available and accessible worldwide, large variations and disparities remain, and reflections on the lessons learned for successful implementation are sparse. In this commentary, members of the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS) describe the global landscape of CGS in the context of health economics and policy and propose evidence-based solutions to address existing and future barriers to CGS implementation. The topics discussed are reflected as two overarching themes: (1) system readiness for CGS and (2) evidence, assessments, and approval processes. These themes highlight the need for health economics, public health, and infrastructure and operational considerations; a robust patient- and family-centered evidence base on CGS outcomes; and a comprehensive, collaborative, interdisciplinary approach.

Indexed as

clinical genomic sequencinggenetic testinggenomic medicineglobal healthhealth economicsprecision medicine

Identifiers

PMID38783891
PMCPMC11115369

What OpenQuestion 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 OpenQuestion graph.