A curated gene list for reporting results of newborn genomic sequencing

被引：88

作者：

Ceyhan-Birsoy, Ozge ^{[1
,2
,3
]}

Machini, Kalotina ^{[1
,2
,3
]}

Lebo, Matthew S. ^{[1
,2
,3
]}

Yu, Tim W. ^{[3
,4
,5
]}

Agrawal, Pankaj B. ^{[3
,4
,6
]}

Parad, Richard B. ^{[3
,7
]}

Holm, Ingrid A. ^{[3
,4
]}

McGuire, Amy ^{[8
]}

Green, Robert C. ^{[3
,9
,10
]}

Beggs, Alan H. ^{[3
,4
]}

Rehm, Heidi L. ^{[1
,2
,3
,10
]}

机构：

[1] Partners HealthCare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA

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

[3] Harvard Med Sch, Boston, MA 02115 USA

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

[5] Boston Childrens Hosp, Dept Neurol, Boston, MA USA

[6] Boston Childrens Hosp, Div Newborn Med, Boston, MA USA

[7] Brigham & Womens Hosp, Dept Pediat Newborn Med, 75 Francis St, Boston, MA 02115 USA

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

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

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

来源：

GENETICS IN MEDICINE | 2017年 / 19卷 / 07期

基金：

美国国家卫生研究院;

关键词：

clinical validity; exome sequencing; gene-disease association; newborn screening; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; ACTIVATED PROTEIN-C; ICHTHYOSIS VULGARIS; ENCODING FILAGGRIN; OVARIAN-CANCER; VENOUS THROMBOEMBOLISM; CONSENSUS STATEMENT; PRACTICE GUIDELINES; SYSTEMATIC-APPROACH; ALZHEIMERS-DISEASE;

D O I：

10.1038/gim.2016.193

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately. Methods: To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence. Based on these attributes, we classified genes to guide the return of results in the BabySeq Project, a randomized, controlled trial exploring the use of newborn GS (nGS), and used our curated list for the first 15 newborns sequenced in this project. Results: Here, we present our curated list for 1,514 gene-disease associations. Overall, 954 genes met our criteria for return in nGS. This reference list eliminated manual assessment for 41% of rare variants identified in 15 newborns. Conclusion: Our list provides a resource that can assist in guiding the interpretive scope of clinical GS for newborns and potentially other populations.

引用

页码：809 / 818

页数：10

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