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Table 2 Summary of recommendations

From: APPLaUD: access for patients and participants to individual level uninterpreted genomic data

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