de Jong Antina, Teeuw Marieke, Janssens A Cecile J W
Universiteit Maastricht, Faculteit Health, Medicine and Life Sciences, afd. Metamedica, Maastricht, the Netherlands.
Ned Tijdschr Geneeskd. 2010;154:A2753.
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.
在不久的将来，通过“全基因组测序”（WGS）以低于1000美元的成本解开人类基因组的DNA密码或许将成为可能。然而，其在临床实践中的实用性值得怀疑。尽管对个体进行全基因组测序可能会变得相对廉价且容易获得，但仅仅了解完整的DNA序列本身并不能提供临床上有用的信息。DNA数据需要进行分析和解读，但我们对DNA变异及其临床后果的认识仍存在许多空白和不确定性。全基因组测序对于确诊单基因疾病和综合征可能是一种有用的补充检测技术，但潜在的不良或不明结果可能会引发伦理和实际问题。因此，全基因组测序的应用应极其谨慎，并在对其可能产生的后果进行充分考虑之后再做决定。
