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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

The sense and nonsense of direct-to-consumer genetic testing for cardiovascular disease

A C J W Janssens, A A M Wilde, I M van Langen

    Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
    |April 5, 2011
    PubMed

    Insights

    Direct-to-consumer genetic testing for cardiovascular disease risk is not currently useful due to limited predictive ability and unverified models. Focus should remain on family history and lifestyle factors for effective disease prevention.

    Area of Science:

    • Genetics
    • Cardiovascular Disease
    • Personalized Medicine

    Background:

    • Cardiovascular diseases (CVD) result from complex interactions between multiple genetic variants and non-genetic risk factors.
    • Direct-to-consumer (DTC) genetic susceptibility testing for CVD is increasingly available online.
    • Personalized medicine aims for targeted preventive and therapeutic interventions based on genetic profiles.

    Purpose of the Study:

    • To evaluate the utility of current DTC genetic susceptibility testing for cardiovascular diseases.
    • To identify limitations and drawbacks of predictive genetic testing for multifactorial cardiovascular conditions.

    Main Methods:

    • Review and critical analysis of the scientific basis and predictive capabilities of DTC genetic tests for cardiovascular disease.
    • Examination of risk models used in DTC testing and their underlying assumptions.
    • Assessment of the impact of genetic testing on clinical recommendations for preventive interventions.

    Main Results:

    • Current predictive ability of DTC genetic tests for cardiovascular disease is limited.
    • Risk models employed by DTC companies often rely on unverified assumptions.
    • Genetic risk predictions are dynamic and subject to change with new variant discoveries.
    • DTC tests fail to incorporate crucial non-genetic risk factors.
    • Test results do not typically alter current preventive recommendations.

    Conclusions:

    • Predictive genetic testing for multifactorial cardiovascular diseases currently offers no clear public benefit.
    • Disease prevention strategies should prioritize family history and modifiable non-genetic risk factors like diet and physical activity.
    • Focusing on lifestyle interventions provides the strongest impact on cardiovascular disease risk, irrespective of genetic predisposition.

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