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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