Postgenomic medicine. Presymptomatic testing for prediction and prevention

Area of Science:

• Genetics and genomics
• Public health
• Medical ethics

Background:

• Genetic screening paradigms are evolving from traditional analytes to molecular genetic testing.
• This shift impacts family units, raising concerns about privacy, confidentiality, and potential discrimination.

Observation:

• Screening is transitioning from Mendelian disease identification to predictive testing for adult-onset and complex disorders.
• Genotype-phenotype correlations are complex, influenced by genetic and environmental factors, impacting genetic counseling.
• Molecular genetic testing is rapidly moving from research to clinical application.

Findings:

• Interpreting genetic test results for single-gene disorders is often straightforward, but complex diseases require careful consideration of population demographics for accurate counseling.
• The efficacy of interventions following genetic testing and the appropriate age for predictive testing are critical considerations.
• Newborn screening exemplifies the value of population-based predictive testing.

Implications:

• The Human Genome Project provides tools for presymptomatic disease prediction and prevention, significantly impacting public health.
• Ethical frameworks must adapt to address the implications of genetic information on individuals and families.
• Further research is needed to refine the clinical validity and utility of genetic testing for complex diseases.