半面阳光
(2023-07-31 22:04):
#paper doi: https://doi.org/10.1016/j.gim.2023.100880, Genetics in Medicine, 2023, Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.这篇文章比较了基因组测序（GS）与靶向基因panel测序（TGP）两种方式在儿科先证者查因中的患者获益情况。结果显示与基因Panel检测相比，GS检测可以使得儿科先证者的诊断提升一倍，但这一结果目前并未在所有人群中得到证实。
IF:6.600Q1
Genetics in medicine : official journal of the American College of Medical Genetics,
2023-09.
DOI: 10.1016/j.gim.2023.100880
PMID: 37158195
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
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Abstract:
PURPOSE: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.METHODS: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design.RESULTS: A total of 645 probands (median age 9 years) underwent genetic testing, and 113 (17.5%) received a molecular diagnosis. Among 642 probands with both GS and TGP testing, GS yielded 106 (16.5%) and TGPs yielded 52 (8.1%) diagnoses (P < .001). Yield was greater for GS vs TGPs in Hispanic/Latino(a) (17.2% vs 9.5%, P < .001) and White/European American (19.8% vs 7.9%, P < .001) but not in Black/African American (11.5% vs 7.7%, P = .22) population groups by self-report. A higher rate of inconclusive results was seen in the Black/African American (63.8%) vs White/European American (47.6%; P = .01) population group. Most causal copy number variants (17 of 19) and mosaic variants (6 of 8) were detected only by GS.CONCLUSION: GS may yield up to twice as many diagnoses in pediatric patients compared with TGP testing but not yet across all population groups.
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