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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

Title: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Authors: Szigety KM; Division of Human Genetics.; Crowley TB; Division of Human Genetics.; Gaiser KB; Division of Human Genetics.; Chen EY; Division of Human Genetics.; Priestley JRC; Division of Human Genetics.; Williams LS; Division of Human Genetics.; Rangu SA; Division of Human Genetics.; Wright CM; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Adusumalli P; Division of Human Genetics.; Ahrens-Nicklas RC; Division of Human Genetics.; Calderon B; Division of Human Genetics.; Cuddapah SR; Division of Human Genetics.; Edmondson A; Division of Human Genetics.; Ficicioglu C; Division of Human Genetics.; Ganetzky R; Division of Human Genetics.; Kalish JM; Division of Human Genetics.; Departments of Pediatrics.; Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Krantz ID; Division of Human Genetics.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Departments of Pediatrics.; Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; McDonald-McGinn DM; Division of Human Genetics.; Departments of Pediatrics.; Medne L; Division of Human Genetics.; Muraresku C; Division of Human Genetics.; Pyle LC; Division of Human Genetics.; Departments of Pediatrics.; Zackai EH; Division of Human Genetics.; Campbell IM; Division of Human Genetics.; Department of Biomedical and Health Information, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Sheppard SE; Division of Human Genetics.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Departments of Pediatrics.
Source: Pediatrics [Pediatrics] 2022 Jul 01; Vol. 150 (1).
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Language: English
Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE
Imprint Name(s): Publication: Elk Grove Village Il : American Academy of Pediatrics; Original Publication: Springfield, Ill., Thomas.
MeSH Terms: Telemedicine*/methods; Child ; Humans ; Patient Satisfaction ; Retrospective Studies ; Surveys and Questionnaires ; Treatment Outcome
Abstract: Background and Objectives: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmorphology physical examination. We studied the clinical effectiveness of telemedicine for patients with suspected or confirmed genetic conditions.; Methods: We conducted a retrospective cohort study of outpatient encounters before and after the widespread implementation of telemedicine (N = 5854). Visit types, diagnoses, patient demographic characteristics, and laboratory data were acquired from the electronic health record. Patient satisfaction was assessed through survey responses. New molecular diagnosis was the primary end point.; Results: Patients seen by telemedicine were more likely to report non-Hispanic White ancestry, prefer to speak English, live in zip codes with higher median incomes, and have commercial insurance (all P < .01). Genetic testing was recommended for more patients evaluated by telemedicine than in person (79.5% vs 70.9%; P < .001). Patients seen in person were more likely to have a sample collected, resulting in similar test completion rates (telemedicine, 51.2%; in person, 55.1%; P = .09). There was no significant difference in molecular diagnosis rate between visit modalities (telemedicine, 13.8%; in person, 12.4%; P = .40).; Conclusions: Telemedicine and traditional in-person evaluation resulted in similar molecular diagnosis rates. However, improved methodologies for remote sample collection may be required. This study reveals the feasibility of telemedicine in a large academic medical genetics practice and is applicable to other pediatric specialties with perceived importance of physical examination.; (Copyright © 2022 by the American Academy of Pediatrics.)
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Grant Information: K08 CA248704 United States CA NCI NIH HHS
Entry Date(s): Date Created: 20220601 Date Completed: 20220704 Latest Revision: 20240908
Update Code: 20260130
PubMed Central ID: PMC9724118
DOI: 10.1542/peds.2021-054520
PMID: 35642503
Database: MEDLINE

Journal Article; Research Support, N.I.H., Extramural