Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

被引：10

作者：

Szego, M. J. ^{[1
,2
,3
,4
,10
]}

Meyn, M. S. ^{[5
,7
,8
,9
,10
,11
]}

Shuman, C. ^{[5
,6
,7
,8
,9
]}

Shaul, R. Zlotnik ^{[1
,11
,12
,13
]}

Anderson, J. A. ^{[1
,12
]}

Bowdin, S. ^{[5
,7
,8
,9
,10
,11
]}

Monfared, N. ^{[5
,6
]}

Hayeems, R. Z. ^{[7
,13
,14
]}

机构：

[1] Univ Toronto, Joint Ctr Bioeth, Toronto, ON, Canada

[2] St Michaels Hosp, Toronto, ON, Canada

[3] Univ Toronto, Dept Family & Community Med, Toronto, ON, Canada

[4] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

[5] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[6] Hosp Sick Children, Dept Genet Counselling, Toronto, ON, Canada

[7] Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada

[8] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[9] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON, Canada

[10] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada

[11] Univ Toronto, Dept Paediat, Toronto, ON, Canada

[12] Hosp Sick Children, Dept Bioeth, Toronto, ON, Canada

[13] Hosp Sick Children, Child Hlth Evaluat Sci, Toronto, ON, Canada

[14] Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2019年 / 62卷 / 05期

关键词：

Whole genome sequencing; Paediatrics; Best interests; Secondary findings; ADULT-ONSET DISORDERS; INCIDENTAL FINDINGS; CHROMOSOMAL MICROARRAY; SECONDARY FINDINGS; RECOMMENDATIONS; STATEMENT; CHILDREN; EXOME; PERCEPTIONS; DISEASES;

D O I：

10.1016/j.ejmg.2018.11.029

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Whole genome sequencing (WGS) is a transformative technology which promises improved diagnostic rates compared to conventional genetic testing strategies and tailored approaches to patient care. Due to the practical and ethical complexities associated with using WGS, particularly in the paediatric context, input from a broad spectrum of healthcare providers can guide implementation strategies. We recruited healthcare providers from the largest paediatric academic health science centre in Canada and conducted semi-structured qualitative interviews, exploring experiences with and perceptions of the opportunities and challenges associated with WGS. Interview transcripts were coded and analyzed thematically. Interviews were completed with 14 genetics professionals (geneticists and genetic counsellors) and 15 non-genetics professionals (physician sub-specialists and nurses). Genetics professionals ordered genetic tests more often and reported greater confidence on pre- and post-test genetic counselling compared to non-genetics professionals. Most healthcare providers endorsed WGS when a more specific test was either not available or not likely to yield a diagnosis. While genetics professionals raised concerns regarding the time demands associated with reviewing WGS variants, non-genetics professionals reflected concerns about knowledge and training. Providers' position on reporting secondary variants to parents drew upon but was not limited to the concept of best interests. Taken together, understanding practical and principled matters of WGS from healthcare providers' perspectives can guide ongoing efforts to implement WGS in paediatrics.

引用

页码：350 / 356

页数：7

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