Elliott Alison M, Dragojlovic Nick, Campbell Teresa, Adam Shelin, Souich Christèle du, Fryer Michele, Lehman Anna, Karnebeek Clara van, Lynd Larry D, Friedman Jan M
Department of Medical Genetics, University of British Columbia, Canada.
BC Children's Hospital Research Institute, Canada.
J Telemed Telecare. 2023 May;29(4):318-327. doi: 10.1177/1357633X20982737. Epub 2021 Jan 20.
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.
Demographics, cost to families (travel and time), time to first appointment, complete trio sample accrual and diagnostic rates were studied.
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 ( < 2.2 × 10). 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) ( = 0.0004).
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.
全基因组测序（外显子组或全基因组）因其诊断能力正在改变对患有罕见病的儿科患者的护理和管理方式。当父母和孩子作为三联体进行测序时，全基因组测序最为有效。建议所有考虑进行全基因组测序的家庭接受遗传咨询。尽管远程医疗在遗传性癌症和产前遗传学的遗传咨询中已得到广泛应用，但其在全基因组测序中的应用尚未得到充分研究。不列颠哥伦比亚省儿童医院和妇女医院的CAUSES诊所是一项基于儿科三联体的全基因组测序转化项目。通过远程医疗（在家庭住所附近的临床地点）为之前已由临床遗传学家评估过的家庭提供检测前遗传咨询。我们报告了在CAUSES诊所接待的前300个家庭的情况，并比较了通过远程医疗与现场就诊的家庭在医疗服务实施方面的问题。
研究了人口统计学特征、家庭成本（交通和时间）、首次预约时间、完整三联体样本采集情况以及诊断率。
在300名患者中，58名（19%）通过远程医疗就诊，242名（81%）现场接受检测前咨询。远程医疗组完成三联体样本采集的平均时间为56.3天（标准差±87.3），而现场就诊组为18.9天（标准差±62.4）（P<2.2×10）。远程医疗组每个家庭估计的实际或潜在交通/时间成本节省均值（987加元；标准差=1151加元）高于现场就诊组（305加元；标准差=589加元）（P=0.0004）。
远程医疗使偏远社区的家庭能够接受全基因组测序，并避免了高昂的交通和时间成本；然而，远程医疗组在完整三联体样本采集方面存在显著延迟，影响了结果报告时间，并延迟了对全基因组测序具有诊断意义的家庭的诊断。
