E-Rare Workshop: Ethical aspects of exome and whole genome sequencing studies (WES/WGS) in rare diseases, 14 January 2013, Tel Aviv, Israel

The workshop was organized on the 14 of January 2013 in Tel Aviv, Israel by the Chief Scientist Office of the Health Ministry of Israel, a member of E-Rare Consortium.

Recently research in rare diseases has been energized by the rapid expansion of new genomic technologies such as whole exome (WES) and whole genome (WGS) studies to unravel unknown molecular basis of many rare diseases. As a result, researchers are learning more about genetic basis and mechanisms involved in rare diseases, and part of these results is already translated as diagnostic tools for the best benefit of patients.
Importantly, the new generation sequencing approaches generate unequalled amounts of bioinformatics data, which include many known and unknown genetic variants, and among them those that are outside the focus of the study. Thus, these research studies can uncover facts relevant to a volunteer’s/patient’s health, stressing the important question of duty to return individual genetic research results to participants.
This issue has rapidly gained in urgency in view of emerging small and large-scale biobanks as well as the use of collections of biological specimens, and stored genomic data, for research. As a consequence the feasibility of obtaining valid informed consent for research has become even more problematic.
Finally, the creation of genetic databases and biobanks has resulted in numerous national regulations and guidelines to ensure that the interest of patients and of those participating in research programmes is respected. This generated a very heterogeneous landscape across Europe, calling for a need in harmonization of ethical and legal frames for informed consent.

The main Objectives of the Workshop were to:

• Review the nature and content of informed consent for patients with rare diseases in the era of WES and WGS studies
• Capture the European initiatives for harmonizing policies and legal frames for informed consent

The workshop gathered top-level specialists in ethics, law and genome/exome sequencing applied to rare diseases: 

Prof. Béla Melegh, Hungary

Prof. Thomas Meitinger, Germany

Prof. Orly Elpeleg, Israel

Prof. Rivka Carmi, Israel

Dr. Vardit Ravitsky, Canada

Prof. Susan Wolf, USA

Adv. Talia Agmon, Israel

Prof. Judit Sandor, Hungary

Prof. Amos Shapira, Israel

Prof. Nils Hoppe, Germany

Dr. Emmanuelle Rial-Sebbag, France

Prof. Ephrat Levy-Lahad, Israel

Dr. Monica Ensini, France

Dr. Simon Woods, UK

Dr. Tessel Rigter, The Netherlands