Ethical Legal and Social Issues in Rare Conditions Research and Clinical Practice


Lead Contact

Dr Ramona Moldovan

The University of Manchester


Professor Anneke Lucassen, University of Oxford

Professor Angus Clarke, Cardiff University

Dr Rachel James (Project Manager), Manchester University NHS Foundation Trust

Henry Frost (Project Manager), The University of Manchester


Individuals and families living with rare conditions can benefit greatly from the technologies that increase our understanding of genetics as they may, for example, provide a diagnosis or access to clinical trials and new treatments. The Ethical, Legal and Social Implications (ELSI) of genetic testing require attention because some of the results provided by these types of tests are best interpreted by someone who is a specialist in the rare disease in question, and therefore the results are not always clear to other doctors or individuals requesting the tests.  

Our Node is the Rare ELSI Node and is a partnership between Manchester, Oxford and Cardiff. We are committed to addressing important issues such as; consent to testing and taking part in clinical trials; living with an undiagnosed rare condition; access to genomic testing; the psychological and social impact of rare conditions; and the design of clinical trials for treatment of rare conditions. We will work with patients, families, communities, clinicians, academics and industry to speed up research and drive innovation in issues ranging from referral pathways to the impact of rare conditions, and the design of clinical trials for treatments of rare conditions. 


The aims of the ELSI node are to:
  • Improve the design of clinical trials for Rare Conditions;
  • Understand the psychosocial impact of living with Rare Conditions;
  • Highlight barriers to mainstream access to genomic testing and research and develop solutions;
  • Develop proposals for good clinical practice in relation to ELSI and the identification and management of patients with Rare Conditions