Table 3. . Key points to improve decision-making and facilitate realistic expectations for clinical genome and exome sequencing.

The range and the limitations of CGES results
Types of results available 1. Results might identify the cause of your condition 2. Additional (secondary) results might explain or predict other conditions Limitations of testing 3. Genome sequencing may not report all variants in a person’s entire genome and will not identify all disease risks 4. The interpretation of results can involve uncertainty, due to variants of uncertain significance, variable penetrance and other factors 5. Interpretation of findings can change over time
Implications of CGES results
Clinical implications of results for tested individual 6. Your healthcare may not change, even if the cause of your condition is identified 7. You may need to see other doctors 8. You may need additional testing
Emotional implications 9. Results can be reassuring or emotionally distressing Implications of results for family members 10. Results could have implications for your children and other family members and could influence your reproductive plans 11. Your test results may suggest that other family members are also at risk 12. Sharing results with family members can be challenging in some families

CGES: Clinical genome and exome sequencing.