Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

被引：47

作者：

Holm, Ingrid A. ^{[1
,2
]}

McGuire, Amy ^{[5
]}

Pereira, Stacey ^{[5
]}

Rehm, Heidi ^{[3
,6
,7
,9
]}

Green, Robert C. ^{[4
,7
,8
]}

Beggs, Alan H. ^{[1
,2
]}

机构：

[1] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA

[2] Dept Pediat, Boston, MA USA

[3] Dept Pathol, Boston, MA USA

[4] Harvard Med Sch, Boston, MA USA

[5] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA

[6] Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA

[7] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[8] Brigham & Womens Hosp, Dept Med, Div Genet, 75 Francis St, Boston, MA 02115 USA

[9] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

来源：

PEDIATRICS | 2019年 / 143卷

基金：

美国国家卫生研究院;

关键词：

INCIDENTAL FINDINGS; PSYCHOSOCIAL IMPLICATIONS; SECONDARY FINDINGS; CLINICAL EXOME; RECOMMENDATIONS; CHILDREN; POINTS; BRCA1; LEGAL;

D O I：

10.1542/peds.2018-1099H

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The return of information from genomic sequencing in children, especially in early life, brings up complex issues around parental autonomy, the child's future autonomy, the best interest standard, and the best interests of the family. These issues are particularly important in considering the return of genomic results for adult-onset-only conditions in children. The BabySeq Project is a randomized trial used to explore the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of newborns who are healthy or sick. We discuss a case in which a variant in a gene for an actionable, adult-onset-only condition was detected, highlighting the ethical issues surrounding the return of such finding in a newborn to the newborn's parents.

引用

页码：S37 / S43

页数：7

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