ELSI stands for Ethical, Economic, Legal and (Psycho)Social issues in Genetics.

The goal of the ELSI research group is to explore, together with all stakeholders, whether and how new genetic techniques and technologies can be developed and implemented as quickly and responsibly as possible in order to benefit patients and the public. The research also serves to identify any gaps (e.g. financial or legal) that need to be addressed before responsible implementation can take place. Next to research activities, the ELSI group is dedicated to moral deliberation, patient involvement and ELSI education.

Relevance

The aim of the ELSI group is to explore whether and how techniques and technologies can be developed and implemented as quickly and responsibly as possible in order to benefit patients and the public.

  • The objective of ELSI research is to involve as many stakeholders as possible to verify whether – and how – innovations in Genetics can be implemented as fast and as responsibly as possible, to the advantage of patients and the public. In Groningen, we focus both on genetic counselling and DNA diagnostics in the care sector and on genetic screening in the population. Based on the results of these studies, often conducted jointly with external colleagues, best practices can be (provisionally) proposed and implemented and guidelines drafted, both locally, nationally, and internationally.

    ELSI research follows a fixed research cycle that starts with the acknowledgment of a promising innovation in Genetics, after which the procedure for the publication of the concept is followed. This also entails devoting attention to the theoretical sides and conceptual questions, and sometimes an idea for a pilot emerges right away. This is followed by a trial implementation and the evaluation and publication of the results of that particular pilot. If successful, this will contribute to the further implementation and distribution of the knowledge gathered. If needed, the cycle can start again.

  • An example of innovation in Genetics is the widespread offer of (pre-conceptional) carrier screening to people who plan to have children. On June 28, 2021, Juliette Schuurmans was granted her doctor’s degree on this subject. Pre-conceptional carrier screening offers couples planning to start a family the possibility to verify, prior to the pregnancy, whether they together have a significantly heightened probability of having children with a serious recessive condition. Such a screening test had not been offered nor evaluated in a healthcare setting before.

    This work all started with an international multidisciplinary stakeholders’ meeting in which participants turned up the heat on one another about what a responsible test should look like. Subsequently, the lab set up a preconception carrier screening test. In addition, an ELSI Group carried out research probing the desirability and conditions for offering such a test under both potential providers and child-planning couples. Apart from some hesitancy, much enthusiasm was expressed. This was followed up by the set-up, execution, and evaluation of a pilot in the Northern Netherlands. The pilot showed that responsible implementation is possible in a carrier test offered by general practitioners.

    In the next step towards nation-wide implementation, our Dutch consortium is developing – within a ZonMW study initiated by the Ministry of Health, Welfare and Sports – advice aimed at conditions for a national trial implementation of pre-conceptional carrier screening.

  • Julia el Mecky is a Medical Anthropologist and one of the ELSI (joint) Ph.D. students in a collaboration with the Clinical Ethics and Law Southampton (CELS) Group of Anneke Lucassen. From British Southampton, and with an insider’s view, Julia studies how cultural aspects impact the handling of genetic data by professionals, patients, and the public in both the Netherlands and Great Britain. To this end, she attended various meetings and interviewed different colleagues and patients. In her dissertation, Julia combines this empirical knowledge with theories on (medical) care from her subject area perspective.

    Genetics generates ever more data, e.g. within whole exome sequencing and whole genome sequencing research and analysis. The significance of all this data is not always known, yet whether it should be included in test results has to be assessed. With the results of her research, Julia hopes to be able to help care workers cope with questions such as:

    • What is "good care" in this case, and who determines it?
    • Is the value of uncertain information the same in any situation? Or can this vary, for example in the diagnosis of a child born ill or in prenatal screening?
    • Do care workers and patients concur? If not, what are the differences? How can they be explained?

    Julia’s research thus contributes to the responsible implementation of innovations in genetic techniques and any corresponding counselling.

    Jacobien Niebuur is postdoctoral researcher in the ELSI research group with a background in economics and epidemiology. She is conducting research into communication and decision-making aspects around the implementation of Pharmacogenomic (PGx) screening within a research setting. This project is part of the PGx strategic screening programme – a collaboration between ELSI researchers, Lifelines Next and Lifelines. Within the PGx screening programme, PGx profiles are generated for Lifelines Next and Lifelines participants and returned to them within pilot studies. The use of this PGx information on the individual level can contribute to the optimization of patient treatment by improving the effectiveness of medication and reducing adverse drug reactions.

    ELSI research into the communication and decision-making aspects of PGx aims to ascertain the conditions for returning PGx results to Lifelines (Next) participants in a feasible and responsible way that optimizes the use of information by participants and their healthcare professionals, including general practitioners and pharmacists. Requirements for responsible implementation of PGx profiles include understanding of the PGx information provided and clarity about the allocation of responsibilities for using the PGx between participants and healthcare professionals involved in their treatment. Using a combination of qualitative and quantitative methods, participant’s attitudes, perceptions and expectations will be assessed and (determinants of) uptake studied. Other stakeholder views, including those of general practitioners and pharmacists, will be assessed using focus group sessions to explore their views on the barriers and facilitators for implementation and their expectations about the allocation of responsibilities between healthcare providers.

  • The ELSI research group is developing a risk-assessment tool that predicts someone's personal risk of cardiovascular disease based on their family health history. The tool focuses on both monogenetic and more complex multifactorial cardiovascular diseases. By implementing this tool, we aim to make people in the general population aware of their personal risk and refer those at higher risk to health professionals for further diagnostics and treatment so that mortality from sudden cardiac death and severe disease symptoms can be prevented in the future. We aim to implement this tool by the third quarter of 2022 as the ‘Stamboom van mijn hart’ (Pedigree of My Heart) tool. This project is being executed by Imke Christiaans and Tetske Dijkstra and funded by the Dutch Heart Foundation.

  • The ELSI research team has opportunities for short-term researchers, interns and trainees. The team is always looking for enthusiastic students who want to perform research on ELSI aspects of genetics. In recent years, students with very different backgrounds (in medicine, (applied) psychology, philosophy, sociology, human technology, midwifery science, science business and policy, and communication sciences for example) have worked as trainees in the ELSI group. Contact Dr. Mirjam Plantinga (m.plantinga@umcg.nl) for more information.

  • Julia El Mecky
    Joint PhD ELSI/CELS (ELSI aspects of next-generation sequencing)
    ORCID: 0000-0003-2453-1941

    Jan Voorwinden
    Researcher (ELSI aspects of communication in genetic counselling)
    ORCID: 0000-0003-1721-0058

    Tetske Dijkstra
    Researcher (Pedigree of my Heart tool)
    ORCID: 0000-0001-7588-0629

Contact

Secretariat Genetics

Dr. Mirjam Plantinga
Telephone: +(31) 50 361 71 00
Email: secr@medgen.umcg.nl

Department of Genetics

University Medical Center Groningen
Postbus 30.001
9700 RB Groningen
The Netherlands

Location in UMCG

Department of Genetics
University Medical Centre Groningen
Medical Faculty building (building 3211), 5th floor
Antonius Deusinglaan 1
9713 AV Groningen, the Netherlands