Construct · 1 fields · 1 citations

secondary findings: a standalone construct

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secondaryfindings1 CONSTRUCTSecondary findingsKALIA · MEDICAL GENETICS

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Medical genetics

pathogenic variants in a defined list of medically actionable genes that are deliberately looked for and reported when exome or genome sequencing is done for another reason.

In medical genetics, secondary findings refers to pathogenic variants in a defined list of medically actionable genes that are deliberately looked for and reported when exome or genome sequencing is done for another reason. This meaning comes from Kalia (2017) in Genetics in Medicine.[1]

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References

  1. Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., McKelvey, K. D., Ormond, K. E., Richards, C. S., Vlangos, C. N., Watson, M., Martin, C. L., & Miller, D. T. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249-255. https://doi.org/10.1038/gim.2016.190

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