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Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES
Alison M Elliott1,2,3, Nick Dragojlovic4, Teresa Campbell1
1Department of Medical Genetics, University of British Columbia, Canada.
Insights
Telehealth improves access to pediatric genome-wide sequencing and reduces family costs, but can delay trio sample collection and diagnosis. This impacts timely rare disease diagnosis for children.
Area of Science:
- Genetics
- Genomic Medicine
- Pediatric Rare Diseases
Background:
- Genome-wide sequencing (exome or whole genome) is a powerful diagnostic tool for rare pediatric diseases.
- Trio-based sequencing (child and both parents) is most effective for diagnosis.
- Telehealth is established in genetic counseling but understudied for genome-wide sequencing.
Purpose of the Study:
- To evaluate the implementation of telehealth for pre-test genetic counseling in a pediatric trio-based genome-wide sequencing program.
- To compare telehealth and on-site service delivery models regarding family costs, sample accrual time, and diagnostic rates.
Main Methods:
- Retrospective analysis of 300 families in the CAUSES Clinic (pediatric trio-based genome-wide sequencing initiative).
- Comparison of telehealth vs. on-site pre-test genetic counseling.
- Data collected included demographics, family costs (travel/time), time to first appointment, trio sample accrual, and diagnostic rates.
Main Results:
- 19% of families (58/300) utilized telehealth for pre-test counseling.
- Telehealth families had significantly longer mean trio sample accrual times (56.3 days vs. 18.9 days, p < 2.2x10^-16).
- Telehealth resulted in greater mean cost savings for families (Can$987 vs. Can$305, p = 0.0004).
Conclusions:
- Telehealth enhances access to genome-wide sequencing for families in remote areas, reducing travel and time burdens.
- A significant delay in trio sample accrual was observed with telehealth, potentially impacting diagnostic timelines.
- Balancing improved access with timely sample collection is crucial for optimizing telehealth in pediatric rare disease diagnosis.
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.
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