The promise and challenges of blood spot methylomics

Epigenetics. 2013 Aug;8(8):775-7. doi: 10.4161/epi.25357. Epub 2013 Jun 19.


Epigenome-wide association studies (EWAS) are being extensively performed to identify epigenetic variants associated to complex diseases. However, EWAS may identify variants that are disease-induced rather than disease-causal. Recent studies have highlighted the use of Guthrie cards to profile the methylome at birth, permitting researchers to find epigenetic variants present in patients before they are diagnosed with clinical disease, with the implicit suggestion that these variants are more likely to be disease causal. The use of Guthrie cards for research purposes throws up a number of ethical issues. We review here the promises and pitfalls of Guthrie cards for disease research.

Keywords: biomarker; blood spot; epigenetics; epigenome wide association study; longitudinal studies.

Publication types

  • Review

MeSH terms

  • Blood Specimen Collection / methods
  • DNA Methylation*
  • Dried Blood Spot Testing / ethics*
  • Dried Blood Spot Testing / methods*
  • Dried Blood Spot Testing / standards
  • Epigenesis, Genetic*
  • Humans
  • Infant, Newborn