Points-to-consider on the return of results in epigenetic research

Abstract

As epigenetic studies become more common and lead to new insights into health and disease, the return of individual epigenetic results to research participants, in particular in large-scale epigenomic studies, will be of growing importance. Members of the International Human Epigenome Consortium (IHEC) Bioethics Workgroup considered the potential ethical, legal, and social issues (ELSI) involved in returning epigenetic research results and incidental findings in order to produce a set of ‘Points-to-consider’ (P-t-C) for the epigenetics research community. These P-t-C draw on existing guidance on the return of genetic research results, while also integrating the IHEC Bioethics Workgroup’s ELSI research on and discussion of the issues associated with epigenetic data as well as the experience of a return of results pilot study by the Personal Genome Project UK (PGP-UK). Major challenges include how to determine the clinical validity and actionability of epigenetic results, and considerations related to environmental exposures and epigenetic marks, including circumstances warranting the sharing of results with family members and third parties. Interdisciplinary collaboration and good public communication regarding epigenetic risk will be important to advance the return of results framework for epigenetic science.

Communicating science: epigenetics in the spotlight

“…The IHEC Bioethics Workgroup recently proposed Points-to-Consider on the Return of Epigenetic Research Results to guide decisions about returning epigenetic research results to research participants (so-called return of research results) (available at http://ihec-epigenomes.org/fileadmin/user_upload/documents/Points-to-Consider_on_the_Return_of_Epigenetic_Research_Results.pdf, accessed 19 Aug 2020 ) [ 39 ]. This Points-to-Consider framework includes criteria for classifying the level of evidence of epigenetic findings as either Associated, Inferred, or Causal Variants.…”

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

“…Interpretation of effects of DNA methylation on gene expression was done for cis-effects only, not trans-effects. Since our analyses were primarily cross-sectional, we cannot infer the temporality in the associations and we cannot assume associations are causal [103]. We recognize the possibility that the observed methylation patterns represent fetal maturity, accompanying a "normal" developmental process or determining time in utero; it was however not possible to include foetuses who did not survive pregnancy most of whom will have been delivered very early.…”

Epigenetics, ethics, law and society: A multidisciplinary review of descriptive, instrumental, dialectical and reflexive analyses

“…Over the past few years, new discussions have emerged, for example regarding when and how scientifically valid and clinically actionable epigenetic information should be communicated to patients or returned to research participants (Dyke et al, 2019; Rial-Sebbag et al, 2016; Roy et al, 2017). In this article, these recent concerns were categorized under the area of discussion ‘knowledge translation’.…”