International Charter of Principles for Sharing Biospecimens and Data D. Mascalzoni CRB Uppsala University [email protected] Manuel Posada

Rare diseases framework There is a growing need to provide greater access to research data and bio-specimen collections to optimize their long-term value and exploit their potential for health discovery

International charter for Sharing The aim of the Charter is to provide simple rules and tools to allow ethically and legally grounded international sharing

Mascalzoni D. et al., International Charter of Principles for Sharing Bio-specimens and Data, EJHG 2014

The charter is the result of a careful negotiation of different stakeholder’s interest • Stakeholders workshop (Brussels 2013): – rare disease patient representatives, legal experts, ethical experts, industry representatives and scientists debated the issues and produced consensus positions that informed the charter.

• First draft is based on further analysis and is built on earlier consensus documents and position statements • The final version is endorsed by the RD Connect Patient Ethics Council and RD Connect Patient Advisory Council

Principles • Privacy and Autonomy: Participants’ privacy must be protected and informed consent must provide provisions for unanticipated data and bio-specimen use. • Reciprocity: Feedback of general results should be channelled to institutions and patients. • Freedom of scientific enquiry: Custodianship should encourage openness of scientific enquiry, and maximize data and biospecimen use • Attribution: The intellectual investment of investigators involved in the creation of data registries and bio- should be acknowledged. • Respect for Intellectual Property: The sharing of data and biospecimens needs to address the requirements of institutions and third-party funders.

Need for legal regulation of sharing

Data Transfer Agreement (DTA)/Material Transfer Agreement (MTA): DTAs and MTAs should always be used to govern data/material transfer between parties.

Privacy principles • Data shall always be collected, stored and exchanged in a secure manner, through secure channels. • Anonymisation of data and bio-resources should be avoided but double coding be in use – impossible to add individual-level data – precludes re-contacting donors to communicate future medical discoveries that may benefit them. – Unique identifier for Rare diseases would greatly help avoiding duplications

• Donors should be informed that the confidentiality of their information will be protected but that there is no guarantee of complete confidentiality

Informed consent • For new collections If broad consent is used, regular updates on the development of the project are recommended • Possibly on-going participation is advised as well as keeping the participants involved. • Informed consent should also offer the option for the participant to withdraw from the research. • Ongoing ethical oversight by proper review or ethical boards is recommended.

Use of existing collections • Research performed should never go against preferences expressed previously • If missing then: either special exemption from the ethical board is granted • RE-consent (also with the opt out mode) should be sought • Core Elements to be included in consent: – International sharing – Next gen sequencing – Return of incidental/secondary findings – Creation of IPS celllines

Duty to return research results and new data to sharing partner institutions

• Return of results significant for individuals that provided the bio-materials (the source institution remains responsible for that) • Return of aggregated or other types of results to the source biobank/database that can be valuably shared further • Return of secondary/incidental findings?

Return of secondary results (ACMG)?

Scientific quality • Access and use of data and samples should always be based on the scientific validity, quality and potential of the request. • Additionally, the identity and bona fides of the requestors should be authenticated.

The sharing of data and bio-specimens, should follow criteria for the acknowledgement of intellectual contributions and originality through rules of authorship and intellectual property rights.

DTA/MTA models • Compliant with international requirements • Legally • Ethically

Ethical Approval

Every project Using Human materials must apply for ethical approval

Thank you