Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

Alison M Elliott; Nick Dragojlovic; Teresa Campbell; Shelin Adam; Christèle du Souich; Michele Fryer; Anna Lehman; Clara van Karnebeek; Larry D Lynd; Jan M Friedman

doi:10.1177/1357633X20982737

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

J Telemed Telecare. 2023 May;29(4):318-327. doi: 10.1177/1357633X20982737. Epub 2021 Jan 20.

Authors

Alison M Elliott^{1

2

3}, Nick Dragojlovic⁴, Teresa Campbell¹, Shelin Adam^{1

2}, Christèle du Souich^{1

2}, Michele Fryer⁵, Anna Lehman^{1

2}, Clara van Karnebeek^{2

6}, Larry D Lynd^{4

7}, Jan M Friedman^{1

2}

Affiliations

¹ Department of Medical Genetics, University of British Columbia, Canada.
² BC Children's Hospital Research Institute, Canada.
³ Women's Health Research Institute, Canada.
⁴ Collaboration for Outcomes Research and Evaluation (CORE), University of British Columbia, Canada.
⁵ Office of Virtual Health, Provincial Health Services Authority, Canada.
⁶ Emma Children's Hospital, University of Amsterdam, The Netherlands.
⁷ Centre for Health Evaluation and Outcomes Sciences, Providence Health Research Institute, Canada.

PMID: 33470133
DOI: 10.1177/1357633X20982737

Abstract

Introduction: Genome-wide sequencing (exome or whole genome) is transforming the care and management of paediatric patients with a rare disease because of its diagnostic capabilities. Genome-wide sequencing is most effective when both parents and the child are sequenced as a trio. Genetic counselling is recommended for all families considering genome-wide sequencing. Although telehealth is well established in genetic counselling for hereditary cancer and prenatal genetics, its use with genome-wide sequencing has not been well studied. The CAUSES Clinic at BC Children's and Women's Hospitals was a translational paediatric trio-based genome-wide sequencing initiative. Pre-test genetic counselling via telehealth (at a clinical site near the family's residence) was offered to families who had been previously evaluated by a clinical geneticist. We report on the first 300 families seen in the CAUSES clinic and compare health services implementation issues of families seen via telehealth versus on-site.

Methods: Demographics, cost to families (travel and time), time to first appointment, complete trio sample accrual and diagnostic rates were studied.

Results: Of the 300 patients, 58 (19%) were seen via telehealth and 242 (81%) were seen on-site for pre-test counselling. The mean time to completion of accrual of trio samples in the telehealth group was 56.3 (standard deviation ±87.3) days versus 18.9 (standard deviation ±62.4) days in the onsite group (p < 2.2 × 10^-16). The mean per-family estimated actual or potential travel/time cost savings were greater in the telehealth group (Can$987; standard deviation = Can$1151) than for those seen on-site (Can$305; standard deviation = Can$589) (p = 0.0004).

Conclusions: Telehealth allowed for access to genome-wide sequencing for families in remote communities and for them to avoid significant travel and time costs; however, there was a significant delay to accrual of the complete trio samples in the telehealth group, impacting on time of result reporting and delaying diagnoses for families for whom genome-wide sequencing was diagnostic.

Keywords: Telehealth; economics; genetic counselling; genome-wide sequencing; telemedicine; virtual health.

MeSH terms

Ambulatory Care Facilities
Child
Cost Savings
Female
Health Services*
Hospitals
Humans
Pregnancy
Telemedicine*