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Table 2 Categories of whole genome sequencing results that may be included in the genome report and cardiac risk supplement in the MedSeq project

From: The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Genome report Cardiac risk supplement
Known pathogenic or likely pathogenic Mendelian variants, including some high-grade variants of uncertain significance resolvable by clinical evaluation Predicted lipid profile (fasting low-density lipoprotein and high-density lipoprotein cholesterol and triglycerides) derived from polygenic model
Carrier status for Mendelian diseases Aggregate genetic risk associated with eight cardiometabolic traits from genome-wide association studies
Pharmacogenomic associations for five commonly used medications: Aortic aneurysm
Warfarin Atrial fibrillation
Clopidogrel Coronary artery disease
Digoxin Hypertension
Metformin Obesity
Simvastatin Platelet aggregation
Genetic prediction of blood type with partial serological confirmation QT prolongation
  Type 2 diabetes