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Related Experiment Videos

Advances in genomic testing.

Sarah Donoghue, Lilian Downie, Chloe Stutterd

    Australian Family Physician
    |April 5, 2017
    PubMed
    Summary

    Genomic testing, including next-generation sequencing, enhances diagnosis for genetic diseases. While it offers insights into prognosis and treatment, interpreting uncertain variants remains a challenge.

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    Area of Science:

    • Genomics
    • Clinical Genetics

    Background:

    • Genomic technology and understanding of Mendelian disease genes have increased clinical use of genomic testing.
    • Genomic testing is becoming more prevalent in healthcare settings.

    Purpose of the Study:

    • To review recent advancements in genetic and genomic testing.
    • To discuss the implications of these advances for clinical practice.

    Main Methods:

    • Review of recent literature on genetic and genomic testing.
    • Analysis of implications for clinical practice.

    Main Results:

    • Next-generation genomic sequencing improves diagnostic yield for suspected genetic diseases.
    • Molecular diagnosis provides data on prognosis, management, reproductive risk, and potential treatment targets.
    • Genomic testing often identifies variants of uncertain significance.

    Conclusions:

    • Genomic testing is a powerful tool for diagnosing genetic diseases.
    • Interpreting variants of uncertain significance requires further research and clinical attention.
    • Case examples illustrate the complexities of genomic testing interpretation.

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