[Genomic medicine as consumer goods].

Area of Science:

• Genetics
• Personalized Medicine
• Bioinformatics

Background:

• Personal genetics has advanced rapidly, with direct-to-consumer (DTC) services becoming more accessible.
• Understanding genetic predispositions involves analyzing both rare, high-impact mutations and common, low-impact variants.

Purpose of the Study:

• To review current trends in personal genetics, focusing on the clinical utility of genetic information.
• To differentiate between the impact of rare versus common genetic variants.
• To critically evaluate the interpretations and potential harms associated with DTC genetic testing.

Main Methods:

• Literature review of current trends in personal genetics.
• Analysis of the distinction between rare high-effect mutations and polygenic scores from common variants.
• Examination of clinical applications of microarray-based genetic testing.
• Review of direct-to-consumer genetic services and their interpretations.

Main Results:

• Personal genetics distinguishes between rare high-effect mutations and the cumulative effects of numerous common, low-risk variants.
• Microarray-based genetic measurements offer potential clinical utility for identifying high-risk mutations.
• Diagnosis-specific polygenic risk scores represent a developing area for risk assessment.

Conclusions:

• While personal genetics holds clinical promise, overinterpretations of DTC genetic services can be hyped and potentially harmful.
• A balanced perspective is needed to discern genuine clinical relevance from exaggerated claims in genetic testing.
• Further research and clear guidelines are essential for the responsible implementation of personal genetics in healthcare.