Albertine Donker

Chapter 9 310 body iron status protects against malaria, 29-31 and that both α –thalassemia (HbH disease) and β-thalassemia major and intermedia, but also carriers of α –thalassemia have relatively low serum hepcidin levels due to an ineffective erythropoiesis. 32-34 In β-thalassemia mice, TMRPSS6 defects counteract the low serum hepcidin levels, thereby attenuating iron overload and anemia. 35-37 Biobanking on an international level would be helpful in exploring these hypotheses. The Iron Biobank, as part of the Radboud Biobank that involves a central storage facility of patient biomaterials, designed in accordance with the standards set by a Dutch national biobank (Parelsnoer Institute 38 ), is a first and important step in the direction of biobanking in the field of iron disorders, although a lot of work needs to be done. 39,40 This Iron Biobank prospectively collects clinical data and bio-specimens of Dutch individuals, referred to the Radboud Center of Iron Disorders (RCID 41 ), with (suspected) inherited disorders of iron metabolism (hereditary hemochromatosis or anemia due to disorders of iron metabolism and heme synthesis) and hemoglobinopathies, and also of their family members in a standardized way. 39-41 However, the recent enormous advances in molecular medicine and genomic research have raised a range of ethical, legal and social implications related to biobank-based research, facing both researchers and clinicians with major challenges that still need to be overcome. 42 Main areas of concern involve the transparency to biobank participants and stakeholders regarding the use and sharing of health data for research, the active involvement of participants in biobank activities, including the selection of research topics and the establishment of public and private partnerships, which constitutes a risk of getting into conflicts of interest around profit-based versus public health activities. 42 Moreover, the recent introduction of two major legal instruments in Europe has great impact on the practice of biobank medicine. First, the European Union General Data Protection Regulation 2016/679 (GDPR) dictates new and strict rules in terms of transparency, data subjects’ rights and information about data uses, and introduces a legal framework regarding direct responsibility of the processor of (health) data to the individual subject. 43 Second, Article 27 of The Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Biomedical Research, establishes legal and ethical obligations in the countries that have ratified this Council of Europe instrument. 44,45