Personalized genetic testing and norovirus susceptibility.

Area of Science:

• Genetics
• Virology
• Personalized Medicine

Background:

• Direct-to-consumer genetic testing allows public access to personal genetic information.
• The FUT2 gene nonsense mutation (G428A) is associated with resistance to norovirus GII.4.
• The resistance spectrum of this mutation against other norovirus strains is not well-defined.

Observation:

• A family with genetically confirmed norovirus resistance experienced a cluster of symptomatic norovirus GI.6 infections.
• Genetic testing revealed all affected family members were homozygous for the norovirus resistance trait (A/A genotype for rs601338).
• Laboratory tests confirmed norovirus GI.6 in three of the four symptomatic family members.

Findings:

• This is the first report of norovirus GI.6 infection in individuals with the FUT2 G428A mutation.
• The findings indicate that the FUT2 G428A mutation may not confer complete resistance to norovirus GI.6 infections.

Implications:

• Direct-to-consumer genetic testing can reveal novel associations between genetic traits and health outcomes.
• Expert interpretation of genetic test results is crucial for understanding potential health implications.
• Further laboratory testing is essential to validate novel associations identified through personalized genetic testing.