Table 2.
Summary of recommendations
| Provide access to genomic data in standard formats |
| 1) FASTQ: read-level data |
| 2) BAM: Binary Alignment Map |
| 3) gVCF: Genome Variant Call Format |
| 4) FASTQ: assembled diplotype genome |
| (Ability to reconstruct genomes: FASTQ ~ = BAM > gVCF > FASTQ) |
| Provide access upon request unless withholding access is justified (by an Access Office or Research Ethics Committee) |
| 1) Breaching confidentiality of a third party (could consent from the third party be obtained?) |
| 2) Imminent and serious harm to the mental or physical health of the individual (could the harm be mitigated?) |
| 3) Access compromises a primary objective of a research study (could access instead be provided at the end of the study?) |
| 4) Expense compromises the feasibility of a research study (could participants be asked to cover the costs?) |
| Establish appropriate data tracking and security processes |
| 1) Authentication service (e.g., Experian) or in-person account creation |
| 2) Best practices for data security (encryption, user access controls, transfer protocols) |
| Describe the right to access in the consent form |
| 1) Distinguish from the plan for return of individual findings of clinical relevance |
| Provide detailed information at the point of access |
| 1) Participant’s right to access uninterpreted data |
| 2) Description of access process |
| 3) Description of risks posed by research-grade data |
| 4) Description of benefits provided by uninterpreted genetic data |
| 5) Description of available genetic counseling services |
| 6) Description of how data will be accessed, stored, and transferred |
| No warranty and disclaimers |
| 1) Clear articulation that data may not meet clinical standards, and should not be used as a basis for clinical interpretation or decision-making without medical advice and confirmatory testing in an accredited laboratory |
| 2) Clear disclaimers that research sponsors do not offer a warranty of the data accuracy and are not liable for harm caused from using the data |
| 3) Research sponsors should still strive to generate the highest quality data |
| Funders |
| 1) Incentivize projects to provide participants access |
| 2) Support costs of participant access |