Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

被引：93

作者：

Smith, Hadley Stevens ^{[1
]}

Swint, J. Michael ^{[2
]}

Lalani, Seema R. ^{[3
]}

Yamal, Jose-Miguel ^{[4
]}

Otto, Marcia C. de Oliveira ^{[4
]}

Castellanos, Stephan ^{[5
]}

Taylor, Amy ^{[6
]}

Lee, Brendan H. ^{[5
]}

Russell, Heidi V. ^{[7
]}

机构：

[1] Univ Texas Houston, Baylor Coll Med, Sch Publ Hlth, Houston, TX USA

[2] Univ Texas Houston, McGovern Med Sch, Ctr Clin Res & Evidence Based Med, Sch Publ Hlth, Houston, TX USA

[3] Baylor Coll Med, Baylor Genet Lab, Houston, TX 77030 USA

[4] Univ Texas Houston, Sch Publ Hlth, Houston, TX USA

[5] Baylor Coll Med, Houston, TX 77030 USA

[6] Texas Med Ctr Lib, Houston, TX USA

[7] Texas Childrens Hosp, Baylor Coll Med, Houston, TX 77030 USA

来源：

GENETICS IN MEDICINE | 2019年 / 21卷 / 01期

关键词：

genome sequencing; exome sequencing; Review; Clinical implementation; Medical genomics; COMPOUND HETEROZYGOUS MUTATIONS; INFANTILE EPILEPTIC ENCEPHALOPATHY; SEVERE COMBINED IMMUNODEFICIENCY; INFLAMMATORY-BOWEL-DISEASE; SHWACHMAN-DIAMOND SYNDROME; HEALTH ECONOMIC-EVALUATION; MOLECULAR DIAGNOSIS; INTELLECTUAL DISABILITY; PHENOTYPIC SPECTRUM; RETROSPECTIVE ANALYSIS;

D O I：

10.1038/s41436-018-0024-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS. Methods: PubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients. Articles were classified according to sample size and whether economic evaluation was a primary research objective. Data on patient characteristics, clinical setting, and outcomes were extracted and narratively synthesized. Results: Of 171 included articles, 131 were case reports, 40 were aggregate analyses, and 4 had a primary economic evaluation aim. Diagnostic yield was the only consistently reported outcome. Median diagnostic yield in aggregate analyses was 33.2% but varied by broad clinical categories and test type. Conclusion: Reported CGS use has rapidly increased and spans diverse clinical settings and patient phenotypes. Economic evaluations support the cost-saving potential of diagnostic CGS. Multidisciplinary implementation research, including more robust outcome measurement and economic evaluation, is needed to demonstrate clinical utility and cost-effectiveness of CGS.

引用

页码：3 / 16

页数：14

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