Deliverable 2.1: Ethical guidelines, data collection and sharing

This deliverable examines the research ethics principles to address the legal and ethical issues arising from the research activities conducted within the HEREDITARY project. Ethics is a primary concern for researchers, and ethical standards, such as the European Code of Conduct for Research Integrity – Revised Edition 2023, are crucial for guiding research and development, especially in unregulated areas such as Artificial Intelligence (AI). Ethics plays a critical role in determining appropriate actions under conditions of uncertainty.

The development, testing, and validation of the HEREDITARY project must comply with ethical principles to respect the individuals involved and prevent harm. HEREDITARY adheres to the ethics adopted throughout the European Union (EU), embedding them in the planning, development, testing, and implementation of its socio-technical solutions. This report aims to introduce the ethical landscape applicable to HEREDITARY by analyzing relevant ethics obligations, such as the Horizon Europe ethics code of conduct, and highlighting project-specific concerns, such as the use of AI systems.

First, we discuss research ethics to provide an overview of the moral norms that researchers must respect. This includes the EU Regulation No 695/2021, which outlines the rules for participation and dissemination in "Horizon Europe – the Framework Programme for Research and Innovation".

Second, we present the ethical foundations of data protection. We provide a comprehensive overview of the legal sources that the consortium must comply with in developing the HEREDITARY project. The applicable legal framework includes international treaties such as the European Convention on Human Rights, the Convention for the Protection of Individuals regarding Automatic Processing of Personal Data (Convention 108), Convention 108+, and the Budapest Convention. The European Convention on Human Rights recognizes the right to privacy as a fundamental human right, which is further concretized by EU regulations such as the GDPR and the ePrivacy Directive.

Third, given HEREDITARY's aim to combine formal methods and reasoning techniques with inductive methods such as machine learning (ML), we discuss the ethical concerns around AI. After years of intensive international debate on the ethical and human rights implications of AI-related technologies, numerous proposals have emerged to regulate these technologies.

These documents reveal a common understanding of principles, including respect for human autonomy, prevention of harm, fairness, and explicability. We focus on two key documents: the AI HLEG Guidelines on Trustworthy AI and the OECD's Recommendation of the Council on Artificial Intelligence. This document provides a step-by-step explanation of the main data protection and ethics-related concepts relevant to the project lifecycle. These include ethical issues in using data (e.g., confidentiality, informed consent) and managing and sharing data (e.g., initial and further processing, lawful basis). We describe strategies proposed to mitigate the risks related to AI applications, particularly in healthcare settings, to discuss how all partners in HEREDITARY will address these challenges. Additionally, we attach relevant documents related to the processing of personal data within the project activities.

We consider this ethics deliverable a comprehensive set of measures aimed at ensuring compliance with ethics requirements within the HEREDITARY project. However, maintaining compliance with ethics and legal requirements is an ongoing effort by all partners throughout the project's duration.