Work Package 2

Ethical, Legal and Social Issues (ELSI)

To improve personalised medicine based on genomic information, the 1+MG initiative aims to give cross-border access to genomic data from 1 million+ EU citizens for research analyses and clinical applications. This effort must meet ethical-legal standards and be socially responsible.

These standards cover a broad range of topics, including but not limited to consent for research, feedback of results, commercialisation of Intellectual Property, and data protection. While often answers have been given for individual genome initiatives, a joint cross-border genome initiative is complicated by overlaps, gaps and conflicts between EU and Member State laws and policies.

To bridge these gaps and to help the 1+MG community navigate the heterogeneous ethical-legal landscapes, we intend to establish a legal, ethical and socially acceptable framework for secure sharing of genomics data across Europe. To do this, we will focus on the research Use Cases of the initiative.

We will:

Objectives

Tasks

The ELSI challenges of genomic research and genomic medicine are not a new subject, nor is the challenge to share such sensitive data across borders. Many stakeholders have already been working on these issues and we will gain input from relevant initiatives and projects to consolidate and develop common ethical standards and best practice for cross- border linking of genomic and other health data. The following subtasks address this:

  1. Identify relevant initiatives and projects, in particular relating to whole genome sequencing (WGS) and whole-exome sequencing (WES) emerging from clinical origin, addressing cross-border data sharing and/or engaging with relevant stakeholders; [ECRIN]
  2. Identify relevant ethics guidelines and existing approaches to deal with the ethical and legal challenges for cross- border sharing that could become the basis for the partners of a pan-European genome initiative; [BBMRI-ERIC]
  3. Facilitate the exchange of best practices between relevant Research and Innovation projects, initiatives and other stakeholders and gain opinions on the B1MG approach to legal interoperability, privacy and ethics; [ECRIN]
  4. Drive the consolidation of agreed policies between the WP3 experts and the Member States (via F2F meetings & video conferences) using the 1+MG initiative members and through them the associated national mirror group members as sounding boards for feasibility of WP3 outputs; [UNILU]

Strong links to potentially relevant initiatives and projects exist through the network of ESFRI infrastructures participating in B1MG. ECRIN and BBMRI are leading experts in the field and as such are partners in many Research and Innovation projects that are ongoing at the European level. With UNILU as Luxembourgish Node of ELIXIR, we can tap into the Strategic Partnership ELIXIR has with GA4GH and UNILU’s membership in the GA4GH Ethics and Regulatory Work Stream. Beyond these inherently established connections, the collaboration with WP1 (Stakeholders Engagement) will be crucial to search also for alignment with other stakeholders, such as patient organisations.

Participants: ECRIN (Jacques Demotes), BBMRI-ERIC (Michaela Mayrhofer), UNILU (Regina Becker)

Participants' roles: ECRIN: lead of Task 2.1 and in charge of Subtasks 2.1.1 and 2.1.3. BBMRI-ERIC: lead of Subtask 2.1.2. UNILU: lead of Subtask 2.1.4 and support of exchange with governing group and alignment with other tasks and WPs.

The identified existing ethics policies will be reviewed, adapted and consolidated for their application in a pan-European genome sharing initiative. It will also be necessary to define minimum criteria for ethical and legal compliance with recognised ethical standards and freedom to operate in a pan-European research environment. The following aspects are foreseen to be covered:

  1. Minimal standards for inclusion of special groups of data subjects such as minors, persons not able to consent, vulnerable population groups, minorities, as well as deceased persons [Signe Mezinska, BBMRI-LV]
  2. Minimal standards for feedback provision to data subjects [Schmidt/Rebers, BBMRI-NL/NKI]
  3. Minimal standards on how to deal with incidental findings, including consideration on genetic counselling [Schmidt/ Rebers, BBMRI-NL/NKI]
  4. Minimal standards and best practice guidelines for consent forms to allow the use of genomics data in a pan-European genome initiative (including relevant input from Task 3 on GDPR relevant aspects) [ECRIN]

Participants: BBMRI-NL/NKI (Marjanka Schmidt/Susanne Rebers), BBMRI-LV (Signe Mezinska), ECRIN (Jacques Demotes), UNILU (Regina Becker)

Participants' roles: BBMRI-NL/NKI: lead of Task 2.2, Subtasks 2.2.2 and 2.2.3. BBMRI-LV: lead of Subtask 2.2.1. ECRIN: lead of Subtask 2.2.4, UNILU: support of exchange with governing group and alignment with other tasks and WPs.

Within the B1MG project, we will map the EU legal framework governing the data life cycle of a pan-European genome initiative with a specific focus on the challenges of making genomic data available across European Economic Area (EEA) countries. Specifically, we will assess how GDPR has been implemented at national level regarding the processing of genetic data. We will focus on applicable GDPR requirements for cross-border sharing, and build a GDPR cross-border toolkit to help scientists, technicians, clinicians, regulators, policymakers, payers and patients meet these requirements with due respect for national derogations and divergence.

In addition, with a view to the empowerment of data subjects under the GDPR, we will analyse the scope and exemptions to data subject rights when it comes to processing for biomedical research. We will develop the legal specifications to help build workable mechanisms to make these rights operational in close collaboration with WP3 and WP4 The tools of the GDPR Cross-Border Toolkit will form the basis for a Code of Conduct for the cross-border sharing of genomic data.

The following Tasks will be addressed:

  1. Determine and analyse the pan-European legal framework governing the data life cycle envisaged by the European 1+MG initiative; [BBMRI-GR].
  2. Delineate national and EU competences for a number of selected Member States and establish the existence, scope and impact of national GDPR exemptions and flag potential challenges that can arise from cross-border processing and from bringing genomic research data to the clinic; [BBMRI-GR].
  3. To help bridge any identified gaps and reconcile conflicting rules, we will work towards common minimum standards and identify applicable GDPR requirements as well as a relevant legal framework applicable for cross-border genetic data sharing [BBMRI-GR].
  4. As part of the GDPR analysis, we will establish the GDPR status, roles and responsibilities of the entities participating in European 1 million genome initiative and observing countries [Legal Pathways].
  5. We will conduct a Data Protection Impact Assessment (DPIA) of the cross-border processing of genomes for research in a pan-European genome initiative [Legal Pathways].
  6. With respect to data subject rights, notably the right of withdrawal of consent, the right to opt out and the right to be forgotten, we will explore the scope of these rights and any derogations thereto [Legal Pathways].

Tasks 2.3.1, 2.3.2, and 2.3.3 will consider relevant European countries and will be done in close interaction with WP5 on the delivery of cross-border sharing. Relevant exchange is further needed with WP5 on aspects such as sharing data beyond the European Economic Area or conditions of withdrawal by data subjects, data providers or participating Member States.

Task 2.3.5 and 2.3.6 will be undertaken in close collaboration with Task 2.4 below (Data Governance Framework). Task 3.5 will have to be translated into the security setup of the technical platforms. All tasks are further to be performed in close alignment with WP3 (Standards), WP4 (Secure cross-border technical infrastructure), WP5 (Delivery) and WP1 (Stakeholders Engagement). The tasks will also benefit from collaboration with the BBMRI-ERIC ELSI Services and Research and its respective task forces, as well as GA4GH, which has given us their commitment of support.

Participants: Pathways (Jasper Bovenberg), BBMRI-GR (Olga Tzortzatou), UNILU (Regina Becker)

Participants' roles: Legal Pathways: lead of Task 2.3 and in charge of Subtasks 2.3.4, 2.3.5 and 2.3.6. BBMRI-GR: in charge of Subtasks 2.3.1, 2.3.2 and 2.3.3. UNILU: support of exchange with governing group and alignment with other tasks and WPs.

This task will aim to provide central solutions for the research Use Case that will govern the entire genome initiative. A Data Governance Framework needs to be set up that allows a day-to-day management of the operations in an initiative comprising different organisations and countries that is coherent, efficient and transparent. Such a Data Governance Framework oversees the data linking and management in compliance with ethical and data protection requirements and considers the responsibilities of the different stakeholders.

To define a Data Governance Framework, we will identify critical elements for an efficient and transparent governance that allows to set up a digital infrastructure enabling the cross-border linking of genomic and other health data for research in Europe. The following Subtasks are considered:

  1. Develop a data access governance building on the evaluation of existing examples. This includes access request and approval procedures, decision criteria and management, non-compliance, and contractual framework. [UNILU]
  2. Determine minimum criteria and essential background information on the ethical setup that data need to comply with in terms of ethical and legal compliance with recognised ethical standards and freedom to operate in a pan-European research environment. [BBMRI-GR]
  3. Define a framework that allows a technical implementation of cross-country compliance with the responsibility and accountability principle that specifies technical means and organisational safeguards, documentation of data use; exercise of data subjects’ rights; data retention. [UNILU]
  4. Consider, in alignment with WP5 (Delivery), a practical approach to the management of generated intellectual property rights emanating from cross-border access and use of personalised medicine data in a pan-European genome initiative . [BBMRI-GR]

Any governance issues will require alignment with WP1 and WP6 to allow transmission to stakeholders for discussion and adoption. In addition, an efficient data governance that is overseen on a central support and steering level needs support by technical solutions. Therefore, a close interaction with WP4 (Secure cross-border technical infrastructure) is essential, in particular on Subtasks 1, 2 and 5. Furthermore, the alignment with GA4GH, as well as other relevant initiatives, is essential.

Participants: UNILU (Regina Becker), BBMRI-GR (Olga Tzortzatou)

Participants' roles: UNILU: lead of Task 2.4, Subtasks 2.4.1 and 2.4.3, support of exchange with governing group and alignment with other tasks and WPs. BBMRI-GR: lead of Subtask 2.4.2 and 2.4.4.

Deliverables

Name Description Due
D2.1 Report of ELSI Stakeholder Meetings
Summary of the achievements of the meetings with the various Stakeholders.
June 2021
D2.2 Policy document for a genome data sharing initiative
The policy document contains minimal standards for a number of relevant subjects such as the inclusion of special groups of data subjects, feedback provision to data subjects and incidental findings, and consent forms.
May 2023
D2.3 Report on legal set-up including DPIA
The report explores the legal situation of data sharing for a pan-European genome initiative.
May 2023
D2.4 Report on data access and governance framework
The report contains a set of specifications and guidelines needed to allow efficient cross-border access and use of genomes for research in compliance with legal and ethical requirements.
May 2023

WP leaders

Regina Becker
Regina Becker (University of Luxembourg)
Jasper Bovenberg
Jasper Bovenberg (Legal Pathways)

Participants

University of Luxembourg, BBMRI-ERIC, ECRIN, Legal Pathways

See also: