{ "id": "AIBD-0281", "title": "Face2Gene's DeepGestalt changed medical geneticists' testing decisions in 17 cases involving 19 patients, in an international case series", "summary": "Rudy et al. (Am J Med Genet A, online 4 July 2025) report 17 cases/19 patients in which DeepGestalt changed geneticists' testing decisions; full text inaccessible, so no per-patient detail.", "date_observed": "2025-07-04", "date_basis": "unassessed", "date_precision": "unassessed", "benefit_status": null, "source_collection": null, "source_entry": null, "account": "Rudy, Gomes, Tkemaladze and 13 co-authors published “Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene”. It appeared online in the American Journal of Medical Genetics Part A on 4 July 2025 (volume 197, issue 11, November 2025). It states: “We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother”. For those cases, “DeepGestalt, the technology powering Face2Gene, changed medical geneticists” testing decisions'. Crossref lists author affiliations at the Greenwood Genetic Center, UC San Diego and Rady Children's Hospital, Tbilisi State Medical University and Weill Cornell. It also lists the University of Nebraska Medical Center, IDI-IRCCS Rome, the Hospital for Sick Children Toronto, UCSF/Fresno and the University of Alabama at Birmingham. It lists FDNA Inc for one author (Nicole Fleischer). It also lists a CC BY-NC-ND license. Despite that license, the full text was not available from Wiley. Unpaywall listed no repository copy and there is no PMC copy. So the sources on record do not give the patients' ages, features, the suggestions made or the tests ordered. The consultations are undated in the abstract.", "category": "benefit created", "unexpected": false, "purpose": "Face2Gene is built to suggest candidate syndromes from facial photographs and clinical features so that geneticists can direct testing. Changed testing decisions were that purpose.", "system": "Face2Gene (DeepGestalt facial phenotyping)", "model_version": null, "developer": "FDNA", "deployer": "Clinical genetics services at the authors' institutions in the United States, Georgia, Italy and Canada (per Crossref affiliations)", "location": "United States, Georgia, Italy and Canada (authors' institutions; case locations not readable)", "domain": "Healthcare / clinical genetics", "segment": "Rare disease diagnosis", "benefit_type": "Improved Physical Health", "taxonomy_note": "Redirected genetic testing is a step toward diagnosis; per-patient outcomes remain unverified.", "registry_ids": {}, "ratings": [ { "group": "personal", "depth": 2, "reason": "DeepGestalt changed medical geneticists' testing decisions in 17 cases involving 19 patients, per the abstract read on Europe PMC. That is a measurable change in the test strategy itself. What diagnoses or treatment followed is not stated. The full text is inaccessible." }, { "group": "organizational", "depth": 1, "reason": "The authors claim “a more efficient test strategy”. No counts of tests avoided or time saved are readable in the abstract." } ], "ai_role": { "status": "assessed", "statement": "The authors state that DeepGestalt's suggestions changed geneticists' testing decisions in real time in all 17 cases. The clinicians, not the software, made the diagnoses. The assessment rests on the abstract alone because the full text was unreadable. One co-author is an FDNA employee. The other 15 are at clinical institutions." }, "evidence": [ { "kind": "case report", "citation": "Rudy NL, Gomes A, Tkemaladze T, Abdul-Rahman O, Cratsenberg D, Pascolini G, Di Zenzo G, Castiglia D, Black E, Washington C, Chad L, Curry C, Del Campo M, Fleischer N, Bird LM, Hurst ACE (2025). Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene. American Journal of Medical Genetics Part A 197(11); online 4 July 2025. Abstract read on Europe PMC (PMID 40613735); one author at FDNA Inc.", "title": "Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene", "url": "https://europepmc.org/article/MED/40613735", "date": "2025-07-04", "written_by": "makers", "quote": "We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother" }, { "kind": "other", "citation": "Crossref metadata for doi:10.1002/ajmg.a.64171 (author affiliations, online date 4 July 2025, CC BY-NC-ND 4.0 licence); the publisher page itself returned a security block.", "title": "Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene", "url": "https://doi.org/10.1002/ajmg.a.64171", "date": "2025-07-04", "written_by": "independent", "quote": null } ], "replication": { "produced_by": [ "Geneticists uploading facial photographs and clinical features to Face2Gene during consultations", "Cases where recognition was hard: atypical presentation, overlapping dysmorphology or phenotypes across ancestries, per the abstract" ], "must_hold": [ "The true syndrome is represented in DeepGestalt's training data", "Clinicians act on the suggestion by changing the test ordered and confirm by molecular testing" ], "echoes": [ { "date": "2023-01-05", "setting": "Single case at Akita National Hospital, Japan: Face2Gene listed MRD7 among candidates for a 22-year-old misdiagnosed with Cornelia de Lange syndrome; exome sequencing confirmed a DYRK1A variant (recorded separately as AIBD-0037)", "model_version": null, "outcome": "recurred", "source": "Obara K, Abe E, Toyoshima I (2023). Cureus, https://pmc.ncbi.nlm.nih.gov/articles/PMC9822525/" } ] }, "paired_incident": null, "headline": "Face2Gene's DeepGestalt changes geneticists' testing in 17 cases", "metric": "17 cases involving 19 patients", "comparator": { "against": "the testing strategy the medical geneticists had planned before the software's suggestion", "before": null, "after": "changed medical geneticists' testing decisions in 17 cases involving 19 patients", "basis": "measured", "quote": "We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother, for which DeepGestalt, the technology powering Face2Gene, changed medical geneticists' testing decisions.", "url": "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:40613735%20AND%20SRC:MED&resultType=core&format=json" }, "later": { "status": "unknown", "date": null, "note": "The abstract provides no later development.", "quote": null, "url": null }, "value": null, "developer_country": "United States", "deployer_country": null, "unrated_because": null, "brief_notes": null, "brief": null, "revisions": [ { "date": "2026-10-20", "change": "Record drafted from the cited sources.", "source": null, "editor": "AIBD" }, { "date": "2026-10-21", "change": "Depth rated 2 for personal and 1 for organizational on the documented outcome, with the reason stated on each rating.", "source": null, "editor": "AIBD" }, { "date": "2026-10-21", "change": "Added what the benefit is measured against from the cited sources.", "source": "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:40613735%20AND%20SRC:MED&resultType=core&format=json", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Benefit type set to Improved Physical Health under Trustible's full taxonomy of 23 types; it was Improved Knowledge Discovery among the six first used.", "source": "https://trustible.ai/post/a-framework-for-measuring-the-benefits-of-ai/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Country of the developer added from the organization's own site or a registry.", "source": "https://fdna.com/privacy-policy/", "editor": "AIBD" }, { "date": "2026-10-21", "change": "Prose pass: a rating reason, account, purpose, the system's part rewritten in shorter sentences with abbreviations expanded; facts, figures and quotations unchanged.", "source": null, "editor": "AIBD" }, { "date": "2026-10-21", "change": "Notes about which sources could be read were reworded for readers; facts, figures and quotations unchanged.", "source": null, "editor": "AIBD" } ], "confidence": "claimed", "shade": "low", "claim_status": "The makers' claim", "claim_basis": "Sources: one other independent source and the makers' case report. 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It appeared online in the American Journal of Medical Genetics Part A on 4 July 2025 (volume 197, issue 11, November 2025). It states: “We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother”. For those cases, “DeepGestalt, the technology powering Face2Gene, changed medical geneticists” testing decisions'. Crossref lists author affiliations at the Greenwood Genetic Center, UC San Diego and Rady Children's Hospital, Tbilisi State Medical University and Weill Cornell. It also lists the University of Nebraska Medical Center, IDI-IRCCS Rome, the Hospital for Sick Children Toronto, UCSF/Fresno and the University of Alabama at Birmingham. It lists FDNA Inc for one author (Nicole Fleischer). It also lists a CC BY-NC-ND license. Despite that license, the full text was not available from Wiley. Unpaywall listed no repository copy and there is no PMC copy. So the sources on record do not give the patients' ages, features, the suggestions made or the tests ordered. The consultations are undated in the abstract.", "benefit_type": "Improved Physical Health" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "account", "benefit_type" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "outcomes[].distribution": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].duration": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].id": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].stakeholder_group": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "ratings": [ { "group": "personal", "depth": 2, "reason": "DeepGestalt changed medical geneticists' testing decisions in 17 cases involving 19 patients, per the abstract read on Europe PMC. That is a measurable change in the test strategy itself. What diagnoses or treatment followed is not stated. The full text is inaccessible." }, { "group": "organizational", "depth": 1, "reason": "The authors claim “a more efficient test strategy”. No counts of tests avoided or time saved are readable in the abstract." } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "ratings" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "outcomes[].status": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].tradeoffs": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "outcomes[].unexpected": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "unexpected": false, "purpose": "Face2Gene is built to suggest candidate syndromes from facial photographs and clinical features so that geneticists can direct testing. 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Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene. American Journal of Medical Genetics Part A 197(11); online 4 July 2025. 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Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene. American Journal of Medical Genetics Part A 197(11); online 4 July 2025. Abstract read on Europe PMC (PMID 40613735); one author at FDNA Inc.", "title": "Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene", "url": "https://europepmc.org/article/MED/40613735", "date": "2025-07-04", "written_by": "makers", "quote": "We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother" }, { "kind": "other", "citation": "Crossref metadata for doi:10.1002/ajmg.a.64171 (author affiliations, online date 4 July 2025, CC BY-NC-ND 4.0 licence); the publisher page itself returned a security block.", "title": "Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene", "url": "https://doi.org/10.1002/ajmg.a.64171", "date": "2025-07-04", "written_by": "independent" } ] } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "evidence" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "sources[].upstream_sources": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "strategic_assessments[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial", "family": "strategic assessments" }, "summary": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "summary": "Rudy et al. (Am J Med Genet A, online 4 July 2025) report 17 cases/19 patients in which DeepGestalt changed geneticists' testing decisions; full text inaccessible, so no per-patient detail.", "account": "Rudy, Gomes, Tkemaladze and 13 co-authors published “Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene”. It appeared online in the American Journal of Medical Genetics Part A on 4 July 2025 (volume 197, issue 11, November 2025). It states: “We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother”. For those cases, “DeepGestalt, the technology powering Face2Gene, changed medical geneticists” testing decisions'. Crossref lists author affiliations at the Greenwood Genetic Center, UC San Diego and Rady Children's Hospital, Tbilisi State Medical University and Weill Cornell. It also lists the University of Nebraska Medical Center, IDI-IRCCS Rome, the Hospital for Sick Children Toronto, UCSF/Fresno and the University of Alabama at Birmingham. It lists FDNA Inc for one author (Nicole Fleischer). It also lists a CC BY-NC-ND license. Despite that license, the full text was not available from Wiley. Unpaywall listed no repository copy and there is no PMC copy. So the sources on record do not give the patients' ages, features, the suggestions made or the tests ordered. The consultations are undated in the abstract." } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "summary", "account" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].autonomy_permissions": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].component_role": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].deployment_configuration": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].inputs_outputs": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].model_name": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].model_version": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "systems[].product_name": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "system": "Face2Gene (DeepGestalt facial phenotyping)" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "system" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "systems[].provider": { "state": "value_present", "value": { "kind": "structured", "data": { "application_developer": "FDNA" } }, "provenance": { "kind": "legacy_record", "basis": "Mapped from the existing case description without a new external source review.", "record_fields": [ "developer" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "taxonomy_crosswalks[]": { "state": "not_assessed", "review_state": "not_assessed", "coverage": "partial" }, "title": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "title": "Face2Gene's DeepGestalt changed medical geneticists' testing decisions in 17 cases involving 19 patients, in an international case series", "headline": "Face2Gene's DeepGestalt changes geneticists' testing in 17 cases" } }, "provenance": { "kind": "legacy_record", "basis": "Preserved from the existing AIBD record; external sources were not rechecked.", "record_fields": [ "title", "headline" ], "source_refs": [] }, "review_state": "record_mapped", "coverage": "partial" }, "version": { "state": "value_present", "value": { "kind": "identifiers", "identifiers": [ "1c55708b42400dfb319d92130aaa6fcd520e7168fd3fd9e5a06b74eb092338ae" ], "role": "SHA-256 of normalized original case data" }, "provenance": { "kind": "curatorial", "basis": "Deterministic content version assigned by the local migration.", "record_fields": [], "source_refs": [] }, "review_state": "record_mapped", "coverage": "complete" }, "workflow": { "state": "value_present", "value": { "kind": "record_fields", "fields": { "account": "Rudy, Gomes, Tkemaladze and 13 co-authors published “Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene”. 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So the sources on record do not give the patients' ages, features, the suggestions made or the tests ordered. The consultations are undated in the abstract.", "replication": { "produced_by": [ "Geneticists uploading facial photographs and clinical features to Face2Gene during consultations", "Cases where recognition was hard: atypical presentation, overlapping dysmorphology or phenotypes across ancestries, per the abstract" ], "must_hold": [ "The true syndrome is represented in DeepGestalt's training data", "Clinicians act on the suggestion by changing the test ordered and confirm by molecular testing" ], "echoes": [ { "date": "2023-01-05", "setting": "Single case at Akita National Hospital, Japan: Face2Gene listed MRD7 among candidates for a 22-year-old misdiagnosed with Cornelia de Lange syndrome; exome sequencing confirmed a DYRK1A variant (recorded separately as AIBD-0037)", "outcome": "recurred", "source": "Obara K, Abe E, Toyoshima I (2023). 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