Table 2 Generic and Rare Disease Research Specific Core Consent Elements

Generic Core Elements:

 General information/Introduction (name of researchers, hospital/institution, funders/sponsors, etc.)

 Nature and objectives of the study

 Voluntariness of participation

 Procedures involved in participation (what will happen during the study) /types of data and samples that will be collected

 Possibility of large scale genome-wide sequencing techniques

 Potential physical, psychological, social and informational risks

 Potential benefits of participation

 Protections in place [locally] to ensure security/privacy/confidentiality

 Duration/place of data/sample storage

 Hosting of data in an open access database

 Access to data/samples for research purposes (who will have access, types of access, governance framework, procedures in place – ex. data access committee), including access by pharma/industry, if applicable

 Access to data/samples for purposes of auditing, validation, control, etc.

 Return of research results/incidental findings (processes and potential inclusion in medical records)

 Withdrawal procedures (sample/data retrieval, destruction, no further contact, no further access, unlink, no further use, etc.)

 Compensation/reimbursement

 Prospects for commercialization and intellectual property procedures

 Study dissemination/publication

 Assent (where applicable)

 Re-contact

 Study oversight (IRB/REC/REB)

Core Elements (Rare Disease Research Specific):

 Rare Disease Research Introductory Clause

 Familial Participation

 Audio/Visual Imaging

 Collecting, storing, sharing of rare disease data

 Recontact for matching

 Data Linkage

 Return of Results to Family Members

 Incapacity/Death

 Risks and Benefits