The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Marcus J. Miller; Maria Laura Duque Lasio; Adam D. Kennedy; Rebecca McClellan; Devin Oglesbee; Wendy E. Smith; V. Reid Sutton; Tina Cowan

doi:10.1016/j.gim.2025.101493

The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Marcus J. Miller
, Maria Laura Duque Lasio
, Adam D. Kennedy
, Rebecca McClellan
, Devin Oglesbee
, Wendy E. Smith
, V. Reid Sutton
, Tina Cowan

Division of Genetics and Genomic Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	101493
Journal	Genetics in Medicine
Volume	27
Issue number	10
DOIs	https://doi.org/10.1016/j.gim.2025.101493
State	Published - Oct 2025

Keywords

Global metabolite profiling
Metabolomic analyses for inherited disorders
Small molecule testing in inborn errors of metabolism

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10.1016/j.gim.2025.101493

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Miller, M. J., Duque Lasio, M. L., Kennedy, A. D., McClellan, R., Oglesbee, D., Smith, W. E., Sutton, V. R., & Cowan, T. (2025). The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 27(10), Article 101493. https://doi.org/10.1016/j.gim.2025.101493

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title = "The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)",

keywords = "Global metabolite profiling, Metabolomic analyses for inherited disorders, Small molecule testing in inborn errors of metabolism",

author = "Miller, \{Marcus J.\} and \{Duque Lasio\}, \{Maria Laura\} and Kennedy, \{Adam D.\} and Rebecca McClellan and Devin Oglesbee and Smith, \{Wendy E.\} and Sutton, \{V. Reid\} and Tina Cowan",

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AU - Miller, Marcus J.

AU - Duque Lasio, Maria Laura

AU - Kennedy, Adam D.

AU - McClellan, Rebecca

AU - Oglesbee, Devin

AU - Smith, Wendy E.

AU - Sutton, V. Reid

AU - Cowan, Tina

PY - 2025/10

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KW - Global metabolite profiling

KW - Metabolomic analyses for inherited disorders

KW - Small molecule testing in inborn errors of metabolism

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DO - 10.1016/j.gim.2025.101493

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The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Keywords

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