ELSI - Session 3

Session 3: ELSI of precision medicine

Advances in genetic and epigenetic testing carry with them a plethora of ethical and legal challenges. As an emerging technology, there are unknown risks associated with the collection and use of genetic information, including for genetic diagnosis, ancestry testing, and precision medicine (e.g. personalised cancer treatments). As such, it is necessary to engage an interdisciplinary approach to establishing ethical and policy guidelines for development in this area, to ensure the benefits of precision medicine are equally distributed and potential harms are minimised.  Session 3 presents ethical, legal and social considerations in developing regulatory frameworks in relation to home genetic testing, human germline gene editing and the use of ‘Big Data’ in genomic research.

Dr Santa Slokenberga

Will we be healthier in the era of precision medicine?

Advances in gene editing technologies have given rise to considerable ethical, social, and legal dilemmas and discussions. One of the central issues in these debates is whether and how to respond to these advances given, one the one hand, their potential to cure diseases that otherwise are incurable, and on the other hand, the fact that these interventions will be inheritable and thus will permanently affect the genetic heritage of the person concerned and the humanity. For the European states that are the Member States of the European Union and simultaneously acceded to the Biomedicine Convention, the possibility to independently regulate the matter is somewhat limited. Both, Biomedicine Convention, as well as the EU Clinical Trials Framework, contain bans on such interventions. Simultaneously, some voices argue for the disproportionality of these bans and the necessity to rethink them. Given the different procedures to lift the current bans, as well as overlapping competences of the actors concerned, it might not necessarily be easy to be done in practice. This contribution seeks to examine what it would take to permit human germline gene editing in Europe. In order to address this question, it focuses on the competences, law-making procedures within the EU, and Council of Europe and the competence interplay between these two regional legal orders and EU Member States.

Mr Jordan Parsons

From proband to provider: information-sharing in home genetic testing

Home genetic testing is a growing phenomenon, fuelled by the notion that knowledge equals control. Users of such services are not always made aware of the possibility that their results will also be indicative of a genetic risk of disease in their relative(s). Current ethical discourse is concerned with the possible responsibility on the part of the proband for sharing such information when it arises. This paper argues for a shift in responsibility from proband to provider.

Prevalent conceptions of autonomy and consent may prevent the sharing of genetic testing results with the proband's relatives in the absence of agreement, but this does not take sufficient account of the inescapably familial nature of genetic information. Starting from Parker and Lucassen's (2004) 'joint account model', this paper adapts Kilbride's (2018) application of the principle of rescue to place responsibility on the providers of genetic testing.

Where the risk of disease to relatives is actionable, this paper argues providers ought to share results based on the principle of rescue. The question of consent is navigated by the proposal of a pre-emptive consent model, whereby consumers are required to agree to the sharing of certain information with their relative(s) in advance of any testing. In order to protect the proband's privacy, all such sharing must be characterised by maximal deidentification. Respect for the autonomy of relatives in seeking health information ought to be achieved by keeping all shared information general initially, thereby allowing relatives to control the extent of the information they receive.

A/Prof. Jeffrey M Craig

How similar are the technical, ethical, legal and social issues for genetic and epigenetic testing?

The ethical, legal and social implications (ELSI) of genetic testing have raised issues related to genetic literacy, informed consent, privacy of genetic information, equity of access, and the provision of genetic counselling. However, the ELSI of epigenetic tests have not drawn the same attention. Given the lower level of public and professional knowledge about such tests, there is a danger that participants will benefit less, and receive more harm. Epigenetics is influenced by genes, development and environment but many have focused only on the latter. This could lead to environmental determinism and stigmatisation. While genetic sequence is largely fixed from conception, epigenetic state differs according to the tissue sampled and the age of the participant. As epigenetic change in early life has been implicated in the origins of chronic disease, epigenetic tests of children will be able to measure risk. Predictive testing of children is already contentious, especially as they cannot give informed consent. However, the reversibility of epigenetic states could mean a positive test result is likely to result in the ability to reduce risk using known interventions. As the epigenetic state of some genes can be passed to the next generation, issues of reproductive decision-making are likely to be different to those based on genetic information. More controversially, parents, particularly mothers, have been blamed for not optimising their children’s health via epigenetic mediated lifestyle ‘choices’. Finally, re-identification of a specific individual using such data may be harder than with genetics, but will be possible due to specific genetic and environmental influences on epigenetic state.

Dr Stephanie Dyke

Epigenetics, Precision Medicine & Open Science: Evolving ELSI

Advances in epigenetics and precision medicine rely on access to extensive datasets from hundreds of thousands of individuals, including data from clinical healthcare settings, and ideally representing a diverse range of populations globally. The steady expansion of data sharing and Open Science policies aims both to facilitate progress in such international, “Big Data” research, and to improve the translation of research findings into widespread healthcare benefits. This presentation will focus on the challenges these current research developments create for the ELSI community, and on evolving ethical and scientific norms and practices to address a changing research landscape. Privacy protections, data access models and consent provisions must all be adapted to improve outcomes for research participants and scientific progress alike. I will also present recent projects with the International Human Epigenome Consortium (IHEC) addressing two aspects of the dissemination and communication of epigenetic findings: 1) the return of individual research results to research participants; and 2) the media portrayal of epigenetic findings and its potential impact on the public understanding of epigenetic science and eventual research translation.

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