Future-proofing genomic data and consent management: a comprehensive review of technology innovations.
Adrien Oliva, Anubhav Kaphle, Roc Reguant, Letitia M F Sng, Natalie A Twine, Yuwan Malakar, Anuradha Wickramarachchi, Marcel Keller, Thilina Ranbaduge, Eva K F Chan, James Breen, Sam Buckberry, Boris Guennewig, Matilda Haas, Alex Brown, Mark J Cowley, Natalie Thorne, Yatish Jain, Denis C Bauer
Author Information
Adrien Oliva: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Anubhav Kaphle: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Roc Reguant: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Letitia M F Sng: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Natalie A Twine: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Yuwan Malakar: Responsible Innovation Future Science Platform, Commonwealth Scientific and Industrial Research Organisation, Brisbane, 41 Boggo Rd, Dutton Park QLD 4102, Australia. ORCID
Anuradha Wickramarachchi: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Marcel Keller: Data61, Commonwealth Scientific and Industrial Research Organisation, Level 5/13 Garden St, Eveleigh NSW 2015, Australia. ORCID
Thilina Ranbaduge: Data61, Commonwealth Scientific and Industrial Research Organisation, Building 101, Clunies Ross St, Black Mountain, Canberra, ACT 2601, Australia. ORCID
Eva K F Chan: NSW Health Pathology, Sydney, 1 Reserve Road, St Leonards NSW 2065, Australia. ORCID
James Breen: Telethon Kids Institute, Perth, WA 6009, Australia. ORCID
Sam Buckberry: Telethon Kids Institute, Perth, WA 6009, Australia. ORCID
Boris Guennewig: Sydney Medical School, Brain and Mind Centre, The University of Sydney, Sydney, 94 Mallett St, Camperdown NSW 2050, Australia. ORCID
Matilda Haas: Australian Genomics, Parkville, VIC 3052, Australia. ORCID
Alex Brown: Telethon Kids Institute, Perth, WA 6009, Australia. ORCID
Mark J Cowley: Children's Cancer Institute, Lowy Cancer Research Centre, Level 4, Lowy Cancer Research Centre Corner Botany & High Streets UNSW Kensington Campus UNSW Sydney, Kensington NSW 2052, Australia. ORCID
Natalie Thorne: University of Melbourne, Melbourne, Parkville VIC 3052, Australia. ORCID
Yatish Jain: Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Level 3/160 Hawkesbury Rd, Westmead NSW 2145, Australia. ORCID
Denis C Bauer: Applied BioSciences, Faculty of Science and Engineering, Macquarie University, Applied BioSciences 205B Culloden Rd Macquarie University, NSW 2109, Australia. ORCID
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.
