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

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.