‘Whole genome sequencing’

In the near future it will probably be possible to unravel the DNA code of the human genome for less than US $ 1,000 by means of ‘whole genome sequencing’ (WGS). However, its usefulness in clinical practice is questionable. Although WGS of an individual may become relatively inexpensive and easily available, knowledge of the complete DNA sequence in itself does not provide clinically useful information. DNA data need to be analyzed and interpreted, but there are still many gaps and uncertainties in our knowledge of DNA variations and their clinical consequences. WGS may be a useful supplementary testing technique for establishing the diagnosis of monogenic disorders and syndromes, but potentially undesirable or unclear findings may cause ethical and practical problems. Therefore, WGS should only be applied very cautiously and after thorough deliberation of its possible consequences.

Conflict of interest: none declared. Financial support: none declared.