Epigenome analysis

Learning outcomes 

At the end of this case study, you should be able to:

  • Explain the key concepts behind epigenetics including what epigenetics is, types of epigenetic modifications, the importance of epigenetics and how it can be related to disease;
  • Understand how epigenetic technology could influence public health strategies in the future; 
  • Critically analyse and evaluate resources given which are related to the field of epigenetics;
  • Develop well-structured and logical arguments relevant to the field of epigenetics and the social, ethical, legal and economic issues (where appropriate) which arise from the epigenomic analysis, for example if there should be legislation in place to protect data arising from analysis.


Epigenome analysis: Issues, Task, Resources


What is epigenetics?

Epigenetics is the study of heritable changes in gene expression caused by mechanisms distinct from the underlying DNA sequence i.e. it is caused my modifications to the genome that do not involve a change to the nucleotide sequence. This is most commonly achieved through DNA methylation although histone modifications such as acetylation, methylation and phosphorylation also play a role. 

epi (Greek): on, above, in addition to


Epigenetic modifications can be altered by environmental factors such as exposures to chemicals and radiation, diet and lifestyle which alter modifications and subsequently alter patterns of gene expression so the genes can be regulated abnormally.

Genetic screening

Many common multifactorial diseases such as cancer, diabetes, depression and cardiovascular disease are caused by complex interactions between genetic and non-genetic factors thus analysis of such genetic factors can allow an individual’s genetic susceptibility to disease to be determined. Genetic screening remains a powerful diagnostic and preventative tool for the medical profession and, as new technologies develop, screening is likely to remain at the forefront of medicine in the future.

Genome testing for multifactorial diseases is performed on the basis of genetic profiling, where multiple genetic variants are combined that are associated with increased or decreased risk of developing a particular condition (Bunnik, Schermer and Janssens, 2011.) At present this is achieved by analysing single nucleotide polymorphisms (SNPs) although recent research suggests that the epigenetic profile of an individual could predispose an individual to developing a range of multifactorial diseases; accordingly, analysing the epigenetic profile (Figure 1) of an individual could identify those who are most at risk of developing disease, lead to individualised prevention strategies, novel diagnostic procedures or stratification of treatment most suitable to the patient (Sagl et al., 2007.)

Epigenome analysis.png

Figure 1: Epigenomic analysis could provide novel epigenetic biomarkers which can serve for disease risk evaluation, early detection, prognosis and treatment response prediction. Studies could also provide novel epigenetic therapy targets. When combined with genetic analysis, such tests could promote personalised treatment strategies for optimal benefits for the patient.



Bunnik, E.M., Schermer, M.H.N. and Janssens, A.C.J.W., 2011. Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues. BMC Medical Ethics, 12:11

Sagl, V. et al., 2007. New understanding of epigenetics and consequences for environmental health and sustainability. Proceedings Sustainable food production and ethics: Preprints of the 7th Congress of the European Society for Agriculture and Food Ethics. EurSAFE 2007, pages pp. 376-381. 


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