It is time to take timing seriously in clinical genetics

Eur J Hum Genet. 2015 Nov;23(11):1435-7. doi: 10.1038/ejhg.2014.271. Epub 2014 Dec 24.

Abstract

Observations made by molecular techniques on the genome along the individuals' lifetime indicate that the genome in somatic cells displays changes at molecular, cellular, and organismal levels. Timing of genetic events leading to somatic mosaicism and gene expression dynamism results in a highly important variable for comprehending the role of genetics in health and disease. Consideration of time in clinical genetics should be enthusiastically invested into research strategy, interpretation of the results, diagnostic routine, and particularly in ethical discussions.

MeSH terms

  • Gene Expression*
  • Genetics, Medical / ethics
  • Genetics, Medical / legislation & jurisprudence
  • Genome, Human*
  • Humans
  • Mosaicism*
  • Mutation
  • Phenotype