Table 1

Possible findings of genome-wide sequencing

Group 1Genetic findings useful for the original clinical or research question
Group 2Any clinically relevant genetic findings, which may have immediate benefits for the patient related to present diseases or clinical conditions
Group 2ADiseases for which possible treatments are available (eg, cardiovascular diseases predisposing to sudden cardiac death)
Group 2BDiseases for which no available treatment exists (eg, Charcot–Marie–Tooth disease type 1A)
Group 3Genetic mutations related to high risks for future Mendelian diseases
Group 3AInformation about risks of preventable or treatable diseases (eg, Lynch syndrome or BRCA1/2)
Group 3BInformation about risks of non-preventable, non-treatable future diseases (eg, Huntington's disease)
Group 4Information about carrier status of mutations for a X linked or an autosomal recessive disorder impacting reproductive life decisions (eg, Tay-Sachs disease, cystic fibrosis)
Group 5Information of variable risk for future diseases. Genetic traits that may be translated into high predisposition for certain complex diseases (eg, ApoE4 and Alzheimer's disease).
Most pharmacogenetic variants (eg, β-blockers and β1-adrenergic receptor)
Group 6Information of unknown significance

  • Adapted with permission from Ayuso et al.54