Personalised medicine holds great promise to improve health outcomes for individuals based on their genetic, environmental and lifestyle factors. However, on the road to unlocking its potential, there are a number of ethical, legal and societal issues (ELSA) that arise from its use.
These concerns range from privacy and data protection to issues of access and discrimination. It is imperative that any arising ELSA issues are addressed so that that the rights and wellbeing of participants and patients can be safeguarded, and that research concerning personalised medicine is conducted in a responsible manner.
To gain further understanding of core ELSA issues, an overview of various topics has been given below, along with resources that may be helpful.
Key ELSA issues that arise in the context of personalised medicine include the following:
Privacy and Data Protection
Personalised medicine relies on collecting and analysing large amounts of personal genetic and health data. Proper safeguards must be in place to maintain the privacy and confidentiality of such information from both a policy and operational perspective.
Resources
BBMRI-ERIC is a European research infrastructure for biobanking. BBMRI ELSI provides an open-access resource platform containing information on ELSI-related matters relevant to biobanking and biomedical research, including topics on data protection and sharing.
ELIXIR is an intergovernmental organisation that brings together life science resources from across Europe. These resources include databases, software tools, training materials, cloud storage and supercomputers. It provides services that can be used by researchers and consortia. Assistance is provided for those involved in EU Horizon and nationally-funded Personalised Medicine projects.
FAQs Privacy & Data Protection
Genetic data processing in medical contexts is regulated by strict ethical and legal standards. While facilitating secure cross-border access to health data is intended, maintaining strong privacy protections is a priority.
How is genetic data protected in personalized medicine?
Genetic data is considered a special category of personal data, meaning it is subject to stricter protection measures, guaranteed by a whole set of legal regulations.
Who has access to genetic and medical information?
Only authorized entities with a legitimate basis, such as healthcare providers and researchers with explicit consent, can access genetic data.
Can genetic data be used without individuals’ consent?
Generally, processing requires explicit consent, unless exemptions apply (e.g., public interest in health, scientific research, or legal obligations).
What happens if there is a data breach?
Organizations must report breaches to authorities within 72 hours and inform affected individuals if there is a high risk.
Referential Documents Privacy & Data Protection
General Data Protection Regulation – (Regulation (EU) 2016/679
EU Data Governance Act (Regulation (EU) 2022/868)
European Health Data Space Regulation (EHDS)
Council of Europe’s Convention on Human Rights and Biomedicine (Oviedo Convention)
Guideline for the notification of serious breaches of Regulation (EU) No 536/2014
Building and sustaining collaborative platforms in genomics and biobanks for health innovation
EP PerMed Guidelines for Data Reusability
FAQs Informed Consent & Patient Rights
While traditional informed consent emphasizes patient’s understanding and voluntary agreement to a proposed treatment, personalized medicine navigates an evolving landscape requiring a robust framework that safeguards patient autonomy, ensures transparent communication, and addresses the ethical challenges posed by the increasing availability and analysis of individual biological data.
Do individuals have to undergo genetic testing for personalized medicine treatments?
According to legal regulations, genetic testing should not be mandatory but voluntary and used under strict ethical guidelines. Besides that, as genetic data is sensitive personal data, it can only be processed under specific conditions, such as explicit consent.
How much information should individuals receive before consenting to genetic testing?
Individuals must receive adequate and comprehensible information before undergoing genetic testing. Clear explanations of risks, benefits, and limitations are mandatory.
Can individuals withdraw consent after providing their genetic data?
Individuals have the right to withdraw consent at any time, particularly in the context of sensitive health data (which applies to genetic data processing).
Referential Documents Informed Consent & Patient Rights
Incidental Findings
Personalised medicine research and testing may uncover incidental findings or lead to the secondary use of data for purposes beyond the original intent, raising ethical considerations about disclosure and consent.
Resources
The BBMRI-ERIC ELSI Knowledge Base is an open-access platform containing information and guidance on various topics, including incidental findings.
FAQ Incidental Findings
Incidental findings in personalized medicine raise several ethical, legal, and practical concerns, namely related to issues like Patient Autonomy vs. Clinician Responsibility; Clinical Actionability and Uncertainty; Psychological and Social Impacts; Equity and Accessibility.
Should all findings be disclosed, or only those with clinical significance?
Notwithstanding some positioning on behalf of patients’ right to know all findings, even those of uncertain significance, guidelines generically recommend disclosing only findings that are clinically significant and actionable (i.e., those that have established interventions or treatments).
Do clinicians have an ethical duty to inform patients about findings even if they are unrelated to the primary reason for testing? And should patients have the right to opt out of receiving certain findings?
Although after balancing beneficence (acting in the patient’s best interest) and respect for autonomy (respecting patients’ preferences), clinicians generally have an ethical obligation to disclose findings that are clinically significant and actionable. Findings that are non-actionable or uncertain pose a dilemma, as that disclosure could cause unnecessary anxiety.
How to minimize emotional and psychological effects on patients potentially emerging from incidental findings?
Minimizing the emotional and psychological effects of incidental findings in personalized medicine requires a combination of pre-test counselling, clear communication, emotional support, and follow-up care.
How to promote patients’ equal access to follow-up care and counselling for incidental findings?
Promoting equal access to follow-up care and counselling for incidental findings in personalized medicine requires addressing financial, geographical, and systemic barriers. For instance: ensuring insurance coverage; subsidizing assistance services and programmes; improving patient education and awareness; addressing systemic health disparities through equitable policies.
Patient Engagement
Patient engagement is crucial in personalised medicine, ensuring patients actively participate in their healthcare decisions. This improves understanding and acceptance of personalised treatments, enhances communication with healthcare providers, and leads to better health outcomes. Prioritising patient engagement makes personalised medicine more patient-centred and ethically responsible.
Resources
The Patient Engagement Management Suite is a hub of co-created tools, resources and practices to help stakeholders adopt patient engagement in a systematic, efficient and meaningful way. The platform provides various tools that assist to plan and execute initiatives relating to patient engagement.
Patients Active in Research and Dialogues for an Improved Generation of Medicines is a public-private partnership, aiming at providing a unique framework that enables structured, effective, meaningful, ethical, innovative, and sustainable patient engagement. The Patient Engagement Toolbox developed by PARADIGM contains information, tools and guidance on how to engage patients in medicines development.
The European Society for Medical Oncology is a reference for oncology education and information. With a priority to include and educate patients, ESMO has developed a guide for patients on the topic of personalised cancer medicine.
Patients Engagement for Medicines Development is a global collaborative coalition to improve global health by co-designing the future of healthcare for patients. With the goal of improving healthcare hand in hand with patients, PFMD has developed a platform of tools and guidance to improve patient engagement.
The European Patients’ Academy is a EU Project promotes literacy in clinical research and the inclusion of people with disease and/or their representatives in the clinical research and development process. It provides guidance on involving and engaging patients in medicines research and development.
Children
Involving children in personalised medicine raises unique ELSI concerns, given that they are in the process of steadily growing and maturing. As a vulnerable population, extra precaution is needed when involving children and young adults.
Resources
The BBMRI-ERIC ELSI Knowledge Base provides an overview on paediatric biobanking and biomedical research, which is also relevant in the context of personalised medicine.
The European Clinical Research Infrastructure Network is a non-profit organisation that links scientific partners and networks across Europe to facilitate multinational clinical research. ECRIN provides background information on neonatal and paediatric clinical trials, as well as tools and procedures, with the aim of empowering the paedatric community.
Sex and Gender
Given that research relating to personalised medicine should be inclusive, the integration of sex and gender aspects is an important component that needs to be incorporated at each of stage of the research process, particularly as sex and gender have traditionally been overlooked in the research field.
Resources
The BBMRI-ERIC ELSI Knowledge Base provides an overview of sex and gender in biomedical research, with the aim of ensuring inclusivity. The information provided is also pertinent to personalised medicine.
Regulatory Frameworks
Regulatory issues that arise in the context of personalised medicine are complex and multifaceted, varying across countries. It is crucial to be aware and to comply with relevant regulatory frameworks and standards.
Resources
The BBMRI-ERIC ELSI Knowledge Base provides an overview of guidelines for research that should be taken into account in research.
The European Clinical Research Infrastructure Network is a non-profit organisation that links scientific partners and networks across Europe to facilitate multinational clinical research. ECRIN has developed a regulatory and ethical database, which consists of information about ethical and regulatory requirements for clinical trials, some of which will also be relevant in the context of personalised medicine.
The US Department of Health and Human Services has put together an international compilation of human research standards, providing an overview of standards across various jurisdictions.
EGE – European Group on Ethics in Science and New Technologies
EUREC – European Network of Research Ethics Committees
ENRIO – European Network of Research Integrity Offices
ALLEA – All European Academies
Ethical aspects
Ethical principles and standards when conducting research and innovation activities are fundamental to guarantee data quality, re-usability, collaborative work, accountability towards the public, also ensuring the reliability of innovations with high impact on human health. In addition, Research and innovation ethical norms facilitate the process of building public trust and inspire the development of other important moral and social values (Human rights, dignity, integrity, equity, diversity, etc.).
Other Documentary Resources
UNESCO International Bioethics Committee
Frequently asked Questions
Equity & Accessibility
Ensuring equitable access to personalised medicine is a complex, though critical challenge.
How to guarantee that personalised medicine will be available to everyone, not only to those who can afford it?
Public and private efforts should be mobilized for accessibility. Governments should invest to make personalised medicine part of public healthcare, and public-private partnerships can lower costs and expand accessibility. Insurance coverage and subsidies should be updated to include genetic testing and personalised treatments. Policies should mandate affordability and prevent exclusive pricing of personalised treatments. Pharmaceutical companies should benefit from fiscal incentives to develop affordable versions of personalised medicine. Regulations should ensure that new treatments are accessible beyond high-income populations.
How to avoid personalised medicine to create healthcare disparities?
Inclusive Research would be pivotal here. Personalised medicine should be based on diverse genetic and population data, preventing bias. Social determinants of health that may limit access to advanced medical care should be addressed.
How can ensure fair access to personalised treatments for underrepresented populations?
Ensuring personalised medicine is inclusive and benefits underrepresented populations requires addressing biases in research, access barriers, and healthcare disparities. Genomic databases should be expanded, to include diverse populations, and clinical trials must include underrepresented populations to ensure that treatments work for all.
Referential Documents Equity & Accessibility
Discrimination & Genetic Bias
How to avoid genetic data be used for discriminatory purposes (e.g. employment / insurance issues)?
To prevent misuse of genetic data, robust mechanisms must be in place to ensure that individuals maintain control over their data (e.g. explicit informed consent for genetic data processing, ensuring individuals’ control on their information). Also, genetic data should be securely stored, anonymized, or pseudonymized to prevent unauthorized use.
What legal protections exist against genetic discrimination?
In Europe, genetic data protection is governed by strong regulations, protecting individuals against discrimination. For instance, the General Data Protection Regulation (GDPR) classifies genetic data as “sensitive personal data,” restricting its processing, and the EU Charter of Fundamental Rights also protects against genetic discrimination.
How to prevent personalised medicine to reinforce biases in healthcare?
Preventing personalised medicine from reinforcing biases in healthcare is a multifaceted effort. On one hand, genetic and medical studies should include diverse populations to avoid skewed results that favour specific ethnic or socioeconomic groups; cost barriers should be reduced, and all populations should have access to genetic testing and personalised therapies; diverse communities should be involved in research design, decision-making, and ethical discussions. On the other hand, strong guidelines should be implemented, to monitor biases in personalised medicine, enforced by public health agencies; healthcare professionals should be trained to recognize and counteract biases in treatment decisions; and AI-driven healthcare models for biases should be developed, ensuring fair treatment across all demographics.
Referential Documents Discrimination & Genetic Bias
Ethical Use of Genetic Information
Can individuals’ genetic data be used for research without their permission?
In general terms, individuals’ genetic data cannot be used for research without their permission. Exceptions, for particular cases, are dependent on explicit consent. For research without individual consent, some jurisdictions may allow i) the use of fully anonymized genetic data, with the guarantee that it cannot be traced back to the person; ii) genetic data use without consent for public health research, disease prevention, or national interest, but with strict ethical oversight; iii) future research use for samples donated to biobanks, via pre-agreed broad or dynamic consent models.
Who owns individuals’ genetic data – individuals themselves, their doctors, or the testing company?
Generically, legal systems assign individuals the right to control their genetic data, meaning they can access, share, or request deletion of their information. However, this does not always mean they have exclusive ownership. For instance, when individuals use direct-to-consumer (DTC) genetic testing services, they typically sign agreements granting the company rights to store, analyze, and sometimes even share their genetic data (often for research or commercial purposes), and some companies may claim ownership over aggregated and anonymized data. Also, in clinical settings, healthcare providers may collect genetic information for diagnostic purposes. However, in this case they do not usually “own” the data in a legal sense (instead acting as custodians, ensuring its protection under medical data privacy laws). Ultimately, ownership depends on consent agreements, data privacy laws, and how the information is used
Is it ethical for companies to profit from individuals’ genetic data?
Profiting from individuals’ genetic data by companies is a debated issue, balancing individual rights, corporate interests, and societal benefits in a complex ethical reflection. Within the scope of a fair model, profiting from the genetic data may become ethically acceptable, strictly if ensured the implementation of: transparent consent processes; opt-in models for data sharing (rather than default participation); compensation for individuals when their data leads to profitable discoveries; stern data protection procedures to prevent misuse.
Referential Documents Ethical Use of Genetic Information
General Data Protection Regulation – (Regulation (EU) 2016/679
Building and sustaining collaborative platforms in genomics and biobanks for health innovation
EU Charter of Fundamental Rights
Council of Europe’s Convention on Human Rights and Biomedicine (Oviedo Convention)UNESCO Universal Declaration on the Human Genome and Human Rights
Responsibility & Accountability
Who is responsible if a personalised treatment fails or causes harm?
Responsibility for a failed or harmful personalised treatment depends on multiple factors, including the nature of the harm, the involved parties, and legal and ethical considerations. Informed consent typically limits liability for providers when patients are aware of potential risks.
Should healthcare providers be required to inform patients of all genetic risks?
The question on whether healthcare providers should be required to inform patients of all genetic risks is complex and involves ethical, legal, and practical considerations. A personalised disclosure model would be suitable, in which: clinically actionable risks are always disclosed; patient preferences guide whether they want to learn about uncertain or untreatable risks; genetic counselling is provided to help interpret and contextualize the information.
How to regulate companies offering direct-to-consumer genetic testing?
Regulating direct-to-consumer (DTC) genetic testing companies is essential to ensure accuracy, privacy, and ethical use of genetic information. Key areas of regulation:
- 1. Accuracy and Validity of Tests
- 2. Consumer Privacy and Data Protection
- 3. Ethical Marketing and Transparency
- 4. Genetic Counseling Requirements
- 5. Use in Employment & Insurance
- 6. Multinational genetic testing companies
- 7. Cross-border enforcement of privacy and accuracy standards
Referential Documents Responsibility & Accountability
General Data Protection Regulation – (Regulation (EU) 2016/679
General Data Protection Regulation – (Regulation (EU) 2016/679
European Health Data Space Regulation (EHDS)
EU Data Governance Act (Regulation (EU) 2022/868)
Council conclusions on personalised medicine for patients
Building and sustaining collaborative platforms in genomics and biobanks for health innovation
EU Charter of Fundamental Rights
Council of Europe’s Convention on Human Rights and Biomedicine (Oviedo Convention)
UNESCO Universal Declaration on the Human Genome and Human Rights