Biobanking for Genetic Diseases

Biobanks are bioresources of human samples linked to relevant personal and health data of the participants, which are collected, processed and stored in an organised system. Their primary purpose is to provide biospecimens for researchers to help improve knowledge on human health and diseases, while appropriately protecting the interests, rights and privacy of the participants. The biobanking community poses a variety of legal, ethical, social and regulatory challenges, particularly involved in genetic diseases, to be overcome because of the sensitive data they store. A crucial avenue for a biobank to build and maintain public trust is therefore through the development of governance mechanisms ensuring that, in pursuing its remit, the biobank acts in compliance with the applicable laws and regulations of the country in which it is located, as well as the international regulations in order to ease the cross-border sample exchange and the international cooperation of biobanks. Key Concepts Biobanks are collections of human samples linked to relevant personal and health data of the participants, organised and managed in a systematic way. Primary purpose of biobanks is to help improve knowledge on human health and diseases. Biobanking poses a variety of challenges including ethical, legal and social issues (ELSI). Because of the preciousness of the samples and the sensitive nature of the data stored in biobanks, proper governance is essential to protecting confidentiality, choices and rights of participants. As critical components in the field of clinical practice and basic research, biobanks develop standard operating procedures devoted to collect, process, store, retrieve and transfer to researchers a set of biospecimens and associated information. In the field of rare diseases (RDs), collectively affecting 6–8% of the population, international cooperation among RD-biobanks is fundamental for sharing and achieving a critical mass of samples and data for basic, translational and clinical research. To ease an international cooperation, biobanks also need to act in compliance with international regulations. Keywords: biobanking; rare genetic diseases; networking; harmonisation and standardisation; ethical, legal and social issues (ELSI); IT structure; genetic data; privacy protection; governance; sustainability