Lessons Learned from the Point-of-Care Use of a Facial Analysis Technology

• 영문명: Lessons Learned from the Point-of-Care Use of a Facial Analysis Technology
• 발행기관: 대한소아신경학회
• 저자명: Jon Soo Kim Hansol Ko Hyewon Woo Won Seop Kim
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』vol.31 no.4, 271~275쪽, 전체 5쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2023.09.30

영문 초록

Purpose: We aimed to evaluate the utility of facial analysis technology for genetic diagnoses in a typical pediatric genetic clinic. Methods: A retrospective review identified children (aged <18 years) who had not previously received a definitive genetic diagnosis and underwent a comprehensive genetic evaluation. Their photographs and relevant clinical non-facial features were uploaded to the CLINIC application of the Face2Gene web interface, and the resulting analysis was accessed and correlated to the molecular diagnosis. Results: Of the 23 children included, the overall diagnostic yield in this study was 60.9% (14/23). In total, 64.3% of patients had the correct condition suggested in the top 10 differential diagnoses. The gestalt similarity was only 55.6%, but the phenotypic features added by the clinician showed a similarity of more than the medium level in all patients. Conclusion: Our data underscore the usefulness of facial analysis technology as an auxiliary point-of-care tool in pediatric genetic clinics, and we also present some considerations to increase accuracy.

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키워드

Face Genetic techniques Machine learning