Evidence map›Paper›PMID 41310283›Full record

ReviewNature medicine2025

Determining the value of genomics in healthcare.

Ilias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, James Buchanan, Deirdre Weymann, Dean A Regier, Michael P Mackley, Richard H Scott, Sue L Hill, Brian H Y Chung and 4 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–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. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026
    Article
  8. 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

14 authors.

Ilias GoranitisEconomics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. ilias.goranitis@unimelb.edu.au.
Robin Z HayeemsChild Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Hadley Stevens SmithPrecision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1247-6535
James BuchananHealth Economics and Policy Research Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-2528-0638
Deirdre WeymannCancer Control Research, BC Cancer Research Institute, Vancouver, British Colombia, Canada.ORCID http://orcid.org/0000-0002-3072-5657
Dean A RegierCancer Control Research, BC Cancer Research Institute, Vancouver, British Colombia, Canada.
Michael P MackleyDivision of Clinical & Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-7388-0905
Richard H ScottGenomics England, London, UK.
Sue L HillNational Health Service England, London, UK.
Brian H Y ChungHong Kong Genome Institute, Hong Kong, China.ORCID http://orcid.org/0000-0002-7044-5916
Claudia C Y ChungDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Stephanie BestAustralian Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Emma L BapleRILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.ORCID http://orcid.org/0000-0002-6637-3411
Zornitza StarkAustralian Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.ORCID http://orcid.org/0000-0001-8640-1371

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As genomic sequencing transitions into mainstream healthcare, critically appraising its value is key to informing evidence-based policy, practice and implementation strategies. Assessing the value of genomics is challenging, as traditional evaluation methods and frameworks do not capture many of the outcomes of genomics. This includes the personal value that genomic information provides individuals and family members, and the potential to reuse sequencing data to improve clinical care and drive research. Evaluation is hampered by lack of standardized outcome measures, small sample sizes, and uncertainties arising from the evolving nature of the technology, its applications and associated costs. Complex health system factors further influence real-world utilization and the value of genomic technologies and services within resource-constrained settings. In this Review, we discuss the need for robust yet agile approaches to evaluating genomic technologies that are dynamically informed by real-world data, and we provide examples of emerging methods and best practices. We emphasize the need for a whole-of-system approach and the need to further advance evaluation and implementation methods, to support health systems to sustainably and equitably integrate genomics into clinical care.

Indexed as

Delivery of Health CareGenomicsHumansPrecision Medicine

Identifiers

What OpenQuestion holds

Textmetadata
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.