Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

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.

Figure 1.. Distribution of in-person vs. video encounters in 2019 and 2020

(A) Distribution of in-person versus video visits for new and follow-up appointments across the Division of Human Genetics. (B) Distribution of in-person versus video visits for each section within the Division of Human Genetics.

Figure 2.. Test recommendation and ultimate completion rates by initial visit method

(A) Percentage of patients recommended to undergo a given diagnostic test and percentage completed. Error bars indicate the 95% confidence interval of the proportion. (B) Time required between test recommendation and return of results to the patient. (C) Analysis of the steps in diagnostic testing, including time between recommendation and sample receipt by the laboratory, time between sample receipt and test report, and time between test report and documentation of disclosure. Note that the sample collection time may also include time required for insurance authorization or benefits investigation.

Figure 3.. Metabolic monitoring lab result timeline by follow-up visit method

Left: Time between follow-up visit and next monitoring amino acid result stratified by visit method for patients with MSUD. Right: Same analysis for patients with PKU. In contrast to MSUD, monitoring for patients with PKU can be performed by state newborn screening laboratories by mail. Circles indicate plasma monitoring performed by our hospital metabolic laboratory and triangles indicate those performed by the state newborn screening facility.

Figure 4.. Amount charged and reimbursed by visit method

Amount charged and reimbursed for new and follow-up appointments for in-person versus video encounters. The dashed line indicates the median amount for each visit type and methodology. The percentage reimbursed for in-person and video visits were similar (37% versus 41%, respectively).