Effective consent for effective research


New sequencing techniques and the increasing sharing of data in international research consortia challenges the informed consent process, adding complexities that need to be co-ordinated. Rare diseases challege informed consent procedures.

In a recent article in the European Journal of Human Genetics, a group of researchers point to rare disease research consortia. They present a special challenge to informed consent procedures because the data and samples available is very limited. If the aim is to ensure the best use of available resources and, at the same time, protect patient’s rights to integrity, these consortia have an ethical duty to plan ahead: They need to ensure the best consent procedures are in place and address ethical and legal hurdles that could hamper future research.

RD-ConnectThe RD-Connect consortium have met this challenge by identifying key core elements for informed consent in international collaborative research for new collections, but also for collections that don’t have informed consent or where previous consent doesn’t cover all elements. Deborah Mascalzoni is part of the RD-Connect consortium. She is Senior Researcher at CRB and one of the authors. According to her, this work is relevant to all international collaborative rare-disease projects.

By Josepine Fernow

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Improving the informed consent process in international collaborative rare disease research: effective consent for effective research, Gainotti S, Turner C, Woods W, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taurscio D, Mascalzoni D, European Journal of Human Genetics advance online publication February 10, 2016.

Deborah Mascalzoni
Deborah Mascalzoni, Senior Researcher at CRB.

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