Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care Article Swipe
Katherine M. Szigety
,
T. Blaine Crowley
,
Kimberly B. Gaiser
,
Erin Chen
,
Jessica Priestley
,
Lydia S. Williams
,
Sneha A. Rangu
,
Christina M. Wright
,
Priyanka Adusumalli
,
Rebecca C. Ahrens‐Nicklas
,
Brandon Calderon
,
Sanmati Cuddapah
,
Andrew C. Edmondson
,
Can Fıçıcıoğlu
,
Rebecca Ganetzky
,
Jennifer M. Kalish
,
Ian D. Krantz
,
Donna M. McDonald‐McGinn
,
Līvija Medne
,
Colleen Muraresku
,
Louise C. Pyle
,
Elaine H. Zackai
,
Ian M. Campbell
,
Sarah E. Sheppard
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1542/peds.2021-054520
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1542/peds.2021-054520
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1542/peds.2021-054520
- OA Status
- green
- Cited By
- 12
- References
- 29
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4281718598
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4281718598Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1542/peds.2021-054520Digital Object Identifier
- Title
-
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-06-01Full publication date if available
- Authors
-
Katherine M. Szigety, T. Blaine Crowley, Kimberly B. Gaiser, Erin Chen, Jessica Priestley, Lydia S. Williams, Sneha A. Rangu, Christina M. Wright, Priyanka Adusumalli, Rebecca C. Ahrens‐Nicklas, Brandon Calderon, Sanmati Cuddapah, Andrew C. Edmondson, Can Fıçıcıoğlu, Rebecca Ganetzky, Jennifer M. Kalish, Ian D. Krantz, Donna M. McDonald‐McGinn, Līvija Medne, Colleen Muraresku, Louise C. Pyle, Elaine H. Zackai, Ian M. Campbell, Sarah E. SheppardList of authors in order
- Landing page
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https://doi.org/10.1542/peds.2021-054520Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.ncbi.nlm.nih.gov/pmc/articles/9724118Direct OA link when available
- Concepts
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Medicine, Telemedicine, Medical genetics, Family medicine, Medical emergency, Genetics, Health care, Biology, Economic growth, Economics, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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12Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2024: 4, 2023: 4, 2022: 1Per-year citation counts (last 5 years)
- References (count)
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29Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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