Abstract
Whole genome/exome sequencing (WGS/WES) has become widely adopted in research and, more recently, in clinical settings. Many hope that the information obtained from the interpretation of these data will have medical benefits for patients and—in some cases—also their biological relatives. Because of the manifold possibilities to reuse genomic data, enabling sequenced individuals to access their own raw (uninterpreted) genomic data is a highly debated issue. This paper reports some of the first empirical findings on personal genome access policies and practices. We interviewed 39 respondents, working at 33 institutions in 21 countries across Europe. These sequencing institutions generate massive amounts of WGS/WES data and represent varying organisational structures and operational models. Taken together, in total, these institutions have sequenced ∼317,259 genomes and exomes to date. Most of the sequencing institutions reported that they are able to store raw genomic data in compliance with various national regulations, although there was a lack of standardisation of storage formats. Interviewees from 12 of the 33 institutions included in our study reported that they had received requests for personal access to raw genomic data from sequenced individuals. In the absence of policies on how to process such requests, these were decided on an ad hoc basis; in the end, at least 28 requests were granted, while there were no reports of requests being rejected. Given the rights, interests, and liabilities at stake, it is essential that sequencing institutions adopt clear policies and processes for raw genomic data retention and personal access.
Highlights
Whole genome sequencing (WGS) and whole exome sequencing (WES) have become widely adopted in research and, more recently, in clinical practice (Birney et al, 2017; Birney, 2019)
General Data Protection Regulation (GDPR) leaves it to member states to decide if and how this right applies in research contexts and to raw genomic data
We explored current practices and policies of data management and personal raw genomic data access for sequenced individuals within these different institutions
Summary
Whole genome sequencing (WGS) and whole exome sequencing (WES) have become widely adopted in research and, more recently, in clinical practice (Birney et al, 2017; Birney, 2019). GDPR leaves it to member states to decide if and how this right applies in research contexts and to raw genomic data . Given the broad translational spectrum in genomics, it can be difficult to clearly distinguish clinical and research contexts (Schickhardt et al, 2020). Another legal uncertainty is whether or not access rights extend to raw sequence data, though broad definitions of personal (health) data support this interpretation (Thorogood et al, 2018). There are ethical arguments for and against personal genome access
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