Whole genome sequencing is a relatively new method that is increasingly being used in highly developed countries in the recent years, as it has become more available and cost-efficient due to advancements in DNA sequencing technologies up to the point where some countries are considering implementing it into routine practice. As opposed to currently used routine methods of screening and diagnostics based on biochemical markers and detection of select genes, whole genome sequencing not only enables increased coverage of diseases that may be undetectable by routine methods, but also offers higher precision in their detection, aids detection of carrier status for genetic variants that increase risk of monogenic diseases, multifactorial diseases and malignant diseases, aids reproductive planning, enables discovery of a substantial number of previously unknown genetic diseases and unknown variants of known diseases, as well as pharmacogenomically significant gene variants that may enable personalized approach to disease prevention and management. From an economic point of view, whole genome sequencing is still rather cost-inefficient. However, considering the recent trends of declining sequencing costs as well as the knowledge whole genome sequencing can provide, there are very solid arguments for their implementation into routine clinical practice, which would enable further development of precision and personalized medicine.