The latest genomic technology with massively parallel simultaneous analysis of millions of genetic variants across the genome has revolutionized biomedical science and the biotechnology industry [1–4]. Now, next-generation sequencing (NGS) technology with faster, cheaper and more accurate human genome sequencing permits the unprecedented identification of genome variants. Validation and assessment of causal (driver) mutations involved in disease pathogenesis, progression and therapeutic response to drugs shapes current thinking and opens new ways for personalized disease risk prediction, prevention and treatment. However, there is a big gap in moving from this excellent genotyping approach to clinical applications as multiple problems and challenges need to be overcome [5,6].
Based on multiple novel genetic variants derived from genome-wide association studies (GWAS) [7,8], several companies now promote direct-to-consumer (DTC) genetic tests. It is promoted that these genetic tools can predict an asymptomatic person’s risk for developing common complex diseases, such as cancer, cardiovascular events, diabetes and many other disorders.