A person's sequenced genome provides clinically actionable utility today
Is it true that a person's sequenced genome provides clinically actionable utility today?
Yes. Current clinical evidence demonstrates that sequenced genomes provide actionable utility today, particularly in diagnosing rare pediatric conditions and guiding targeted precision oncology treatments.
Verdict: SUPPORTED · 3 sources for, 0 against · Last checked
The retrieved literature contains strong empirical evidence, including meta-analyses and prospective clinical studies, showing that whole-genome and exome sequencing are actively used in clinical settings to diagnose genetic disorders, identify disease predispositions, and guide cancer treatments. No papers refute the claim, so the balance verdict is SUPPORTED.
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Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018). Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. doi.org. https://doi.org/10.1038/s41525-018-0053-8
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Hou, Y., Yu, H., Martin, R., Cirulli, E. T., Schenker-Ahmed, N. M., Hicks, M. A., Cohen, I. V., Jönsson, T. J., Heister, R. R., Napier, L. A., Swisher, C., Dominguez, S., Tang, H., Li, W., Perkins, B. A., Barea, J., Rybak, C., Smith, E., Duchicela, K., Doney, M., Brar, P., Hernandez, N., Kirkness, E., Kahn, A. M., Venter, J., Karow, D., & Caskey, C. (2020). Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. doi.org. https://doi.org/10.1073/pnas.1909378117
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Kim, R., Kim, S., Oh, B. B., Yu, W. S., Kim, C. W., Hur, H., Son, S., Yang, M. J., Cho, D. S., Ha, T., Heo, S., Jang, J. Y., Yun, J. S., Kwack, K., Kim, J. K., Huh, J., Lim, S., Han, S., Lee, H., Park, J. E., Kim, C., Roh, J., Koh, Y. W., Lee, D., Kim, J., Lee, G., Noh, C., Jung, Y., Park, J. W., Sheen, S., Ahn, M., Choi, Y. W., Kim, T., Kang, S. Y., Choi, J., Baek, S. Y., Lee, K., Kim, S. I., Noh, S. H., Kim, S., Hwang, H., Joo, E., Lee, S., Shin, J., Yun, J., Park, J., Yi, K., Kwon, Y., Lee, W., Park, H., Lim, J., Yi, B., Koo, J., Koh, J., Lee, S., Lee, Y., Lee, B., Connolly-Strong, E., Ju, Y., & Kwon, M. (2024). Clinical application of whole-genome sequencing of solid tumors for precision oncology. doi.org. https://doi.org/10.1038/s12276-024-01288-x
What does the evidence say?
The retrieved literature contains strong empirical evidence, including meta-analyses and prospective clinical studies, showing that whole-genome and exome sequencing are actively used in clinical settings to diagnose genetic disorders, identify disease predispositions, and guide cancer treatments. No papers refute the claim, so the balance verdict is SUPPORTED.
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