Evidence map›Paper›PMID 42906085›Full record

ArticleJMIR medical informatics2026

Making Genomic Data Actionable in Electronic Health Records: Practical Viewpoint on Standards, Governance, and Implementation.

Styliana Menelaou, Eirini C Schiza, Marios Tomazou, Andreas Neocleous, Anastasis Oulas, Menelaos Pipis, Andreas Menikou, Athina Theodosiou, Maria Papaioannou, Carolina Sismani and 3 more

Abstract read
In one paragraph

Article in JMIR medical informatics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Styliana MenelaouDepartment of Bioinformatics, Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, 2371, Cyprus, 357 99045197.ORCID http://orcid.org/0009-0006-7085-883X
Eirini C SchizaUniversity of Cyprus Medical School, Nicosia, Cyprus.ORCID http://orcid.org/0000-0002-3593-6605
Marios TomazouDepartment of Bioinformatics, Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, 2371, Cyprus, 357 99045197.ORCID http://orcid.org/0000-0002-0836-5579
Andreas NeocleousNational eHealth Authority of Cyprus, Nicosia, Cyprus.ORCID http://orcid.org/0000-0002-0730-2314
Anastasis OulasDepartment of Bioinformatics, Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, 2371, Cyprus, 357 99045197.ORCID http://orcid.org/0000-0002-9350-7577
Menelaos PipisDepartment of Neuropathology, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID http://orcid.org/0000-0003-0511-6515
Andreas MenikouNational eHealth Authority of Cyprus, Nicosia, Cyprus.ORCID http://orcid.org/0009-0001-5343-0771
Athina TheodosiouDepartment of Cytogenetics and Genomics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID http://orcid.org/0000-0003-4363-8162
Maria PapaioannouUniversity of Cyprus Medical School, Nicosia, Cyprus.ORCID http://orcid.org/0000-0002-1469-2541
Carolina SismaniDepartment of Cytogenetics and Genomics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID http://orcid.org/0000-0002-9296-8347
Theodoros KyprianouBiomedical Engineering Research Centre (BERC), University of Cyprus, Nicosia, Cyprus.ORCID http://orcid.org/0000-0001-8272-7630
George M SpyrouDepartment of Bioinformatics, Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, 2371, Cyprus, 357 99045197.ORCID http://orcid.org/0000-0002-2470-3363
Christos N SchizasNational eHealth Authority of Cyprus, Nicosia, Cyprus.ORCID http://orcid.org/0000-0001-6548-4980

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Unlabelled: Electronic health records (EHRs) are central to patient-centered care. However, many current EHR systems do not represent, exchange, or reuse genomic findings in structured, interoperable, and clinically actionable forms. Instead, genomic results are often retained in static reports. This limits their use in routine clinical care and clinical decision support. It also restricts their future reinterpretation as scientific knowledge evolves, as well as their reuse for research within appropriate governance frameworks. To support precision and personalized medicine, we advocate that clinically relevant genomic findings should be represented within EHRs as structured, phenotype-linked, interoperable, and versioned data. Raw and intermediate genomic files, however, should remain in appropriately governed laboratory or genomics repositories. This viewpoint is intended for health policymakers, health informatics leaders, EHR developers, research and clinical genomics laboratories, and clinicians involved in implementing genomics into routine care. It is informed by selected published literature and relevant technical standards. It is also informed by operational experience at the Cyprus Institute of Neurology and Genetics and multidisciplinary discussions from the Gen2EHR Implementation Guidelines Workshop conducted within the Extended EHR@EU Data Space and European Health Data Space for Secondary Use @CY initiatives. We examine technical, organizational, clinical, ethical, legal, and governance challenges, including inconsistent reporting formats and unclear clinical responsibility. We propose a staged, workshop-informed implementation pathway for evaluation within the European Health Data Space. The pathway combines Health Level 7 Fast Health Interoperability Resources Genomics Reporting with complementary standards and terminologies. It also includes transitional dual PDF and structured Fast Health Interoperability Resources reporting, governance for access, version control, reinterpretation, and clinical responsibility, as well as multidisciplinary pilot validation in real diagnostic workflows. The clinical effectiveness and transferability of the proposed pathway across European health systems remain to be established.

Indexed as

Electronic Health RecordsGenomicsDigital HealthHumansPrecision MedicineCDSSclinical decision support systemsEHDSEHRselectronic health recordsEuropean Health Data SpacegenomicsHL7 FHIRinteroperabilitypersonalized medicinepharmacogenomicsprecision medicine

Identifiers

PMID42906085
PMCPMC13686338

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.