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Integrating Clinical Genetics in Clinical Practice
Polygenic Variants and Future of Genetic Testing
Polygenic Variants and Future of Genetic Testing
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Video Transcription
Video Summary
The video discusses the relationship between monogenic disorders, polygenic disorders, and direct-to-consumer genetic testing. Monogenic disorders are caused by a single gene mutation, but their phenotype can be influenced by polygenic background. Oligogenic disorders, such as chylomicronemia syndrome, involve a combination of monogenic and polygenic factors. Polygenic disorders result from multiple gene variants and are influenced by environmental factors. Genome-wide association studies (GWAS) are used to identify gene variants associated with disease risk, but results only show correlation, not causation. Direct-to-consumer genetic testing offers predictions about health and ancestry, but there are concerns about privacy, accuracy, and lack of healthcare provider involvement. The future of precision medicine involves integrating monogenic and polygenic testing with clinical risk factors and patient preferences. Policy regulations are needed to address privacy and handling of genetic data. Healthcare providers should be familiar with genetic concepts and may consult genetic professionals.
Keywords
monogenic disorders
polygenic disorders
direct-to-consumer genetic testing
oligogenic disorders
genome-wide association studies
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