title: The promise and challenges of blood spot methylomics.
abstract: 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.
authors.affiliation: The Blizard Institute; Barts and The London School of Medicine and Dentistry; Queen Mary University of London; London, UK.
authors.forename: Sreeram V
authors.initials: SV
authors.lastname: Ramagopalan
authors.forename: Vardhman K
authors.initials: VK
authors.lastname: Rakyan
mesh_terms: D001800:Blood Specimen Collection / Q000379:methods; D019175:DNA Methylation; D059788:Dried Blood Spot Testing / Q000941:ethics* / Q000379:methods* / Q000592:standards; D044127:Epigenesis, Genetic; D006801:Humans; D007231:Infant, Newborn
keywords: biomarker; blood spot; epigenetics; epigenome wide association study; longitudinal studies