Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

被引：32

作者：

Anderson, J. A. ^{[1
,2
,3
]}

Hayeems, R. Z. ^{[4
,5
]}

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

Szego, M. J. ^{[3
,10
,11
,12
]}

Monfared, N. ^{[7
]}

Bowdin, S. ^{[7
,9
,14
]}

Shaul, R. Zlotnik ^{[1
,3
,4
,14
]}

Meyn, M. S. ^{[7
,8
,9
,13
,14
]}

机构：

[1] Hosp Sick Children, Dept Bioeth, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada

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

[4] Hosp Sick Children, Child Hlth Evaluat Sci, Toronto, ON M5G 1X8, Canada

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

[6] Hosp Sick Children, Genet Counselling, Toronto, ON M5G 1X8, Canada

[7] Hosp Sick Children, Ctr Genet Med, Toronto, ON M5G 1X8, Canada

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

[9] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[10] St Josephs Hlth Ctr, Toronto, ON, Canada

[11] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[12] Univ Toronto, Dept Family & Community Med, Toronto, ON M5S 1A1, Canada

[13] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[14] Univ Toronto, Dept Paediat, Toronto, ON M5S 1A1, Canada

来源：

CLINICAL GENETICS | 2015年 / 87卷 / 04期

关键词：

child; DNA; ethics; genetic predisposition to disease; genetic testing; standards; genomics; incidental findings; sequence analysis; INCIDENTAL FINDINGS; QUANTUM-MECHANICS; CURRENT SITUATION; CHILDREN; DISEASES; PERSPECTIVES; STATEMENT; DIAGNOSIS; AUTONOMY; STANDARD;

D O I：

10.1111/cge.12460

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second, we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.

引用

页码：301 / 310

页数：10

共 43 条

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Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing [J].