Login / Signup

Future-proofing genomic data and consent management: a comprehensive review of technology innovations.

Adrien OlivaAnubhav KaphleRoc ReguantLetitia M F SngNatalie A TwineYuwan MalakarAnuradha WickramarachchiMarcel KellerThilina RanbadugeEva K F ChanJames BreenSam BuckberryBoris GuennewigMatilda A HaasAlex Dh BrownMark J CowleyNatalie ThorneYatish JainDenis Carolin Bauer
Published in: GigaScience (2024)
Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases. Similarly, clinicians need efficient access to a patient's genome as well as population-representative historical records for evidence-based decisions. Both researchers and clinicians hence rely on participants to consent to the use of their genomic data, which in turn requires trust in the professional and ethical handling of this information. Here, we review existing and emerging solutions for secure and effective genomic information management, including storage, encryption, consent, and authorization that are needed to build participant trust. We discuss recent innovations in cloud computing, quantum-computing-proof encryption, and self-sovereign identity. These innovations can augment key developments from within the genomics community, notably GA4GH Passports and the Crypt4GH file container standard. We also explore how decentralized storage as well as the digital consenting process can offer culturally acceptable processes to encourage data contributions from ethnic minorities. We conclude that the individual and their right for self-determination needs to be put at the center of any genomics framework, because only on an individual level can the received benefits be accurately balanced against the risk of exposing private information.
Keyphrases