Evidence map›Paper›PMID 40375359›Full record

ReviewAmerican journal of medical genetics. Part A2025

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Benjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, Dat Duong, Melissa A Haendel, Tzung-Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka and 11 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of medical genetics. Part A, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Artificial intelligence in clinical genetics: Current practice and attitudes among the clinical genetics workforce.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  2. Review
  3. Disparate language and model effects on AI-based translation and recognition of genetic conditions.Journal of the American Medical Informatics Association : JAMIA · 2026
    Article
  4. Article
  5. Article
  6. 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

21 authors.

Benjamin D SolomonMedical Genomics Unit, National Human Genome Research Institute, Bethesda, Maryland, USA.
Morgan CheathamWarren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
Thales A C de GuimarãesMoorfields Eye Hospital National Health Service Foundation Trust, London, UK.ORCID 0000-0002-7936-6851
Dat DuongMedical Genomics Unit, National Human Genome Research Institute, Bethesda, Maryland, USA.
Melissa A HaendelDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Behnam JavanmardiInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Britt JohnsonGeneDx, LLC, Gaithersburg, Maryland, USA.
Peter KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.ORCID 0000-0002-3194-8625
Paul KruszkaGeneDx, LLC, Gaithersburg, Maryland, USA.ORCID 0000-0003-4949-0875
Tim LaurentGeneDx, LLC, Gaithersburg, Maryland, USA.
Ni-Chung LeeDepartment of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0002-5011-7499
Kirsty McWalterGeneDx, LLC, Gaithersburg, Maryland, USA.
Michel MichaelidesMoorfields Eye Hospital National Health Service Foundation Trust, London, UK.ORCID 0000-0002-1552-7046
Klaus MohnikeChildren's Hospital, Otto-von-Guericke-University, Magdeburg, Germany.
Nikolas PontikosMoorfields Eye Hospital National Health Service Foundation Trust, London, UK.ORCID 0000-0003-1782-4711
Maria J Guillen SacotoGeneDx, LLC, Gaithersburg, Maryland, USA.
Yousif J ShwetarDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Vincent D UstachGeneDx, LLC, Gaithersburg, Maryland, USA.
Rebekah L WaikelMedical Genomics Unit, National Human Genome Research Institute, Bethesda, Maryland, USA.
William WoofUniversity College London Institute of Ophthalmology, London, UK.ORCID 0000-0001-7555-329X

Funding

Intramural NIH HHS ZIA HG200406NHGRI NIH HHS
6 · The paper itself

Abstract

Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will affect, medical genetics. The authors who contributed to this collection of essays intentionally represent different areas of expertise, career stages, and geographies, and include diverse types of clinicians, computer scientists, and researchers. The individual pieces cover a wide range of areas related to medical genetics; we expect that these pieces may provide helpful windows into the ways in which AI is being actively studied, used, and considered in medical genetics.

Indexed as

Artificial IntelligenceGenetics, MedicalHumansAIartificial intelligenceclinical geneticsmedical geneticsmedical genomics

Identifiers

PMID40375359
PMCPMC13255970

What Socratic 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 Socratic graph.