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

被引：0

作者：

Oliva, Adrien ^{[1
]}

Kaphle, Anubhav ^{[1
]}

Reguant, Roc ^{[1
]}

Sng, Letitia M. F. ^{[1
]}

Twine, Natalie A. ^{[1
]}

Malakar, Yuwan ^{[2
]}

Wickramarachchi, Anuradha ^{[1
]}

Keller, Marcel ^{[3
]}

Ranbaduge, Thilina ^{[4
,5
]}

Chan, Eva K. F.

Breen, James ^{[6
,7
]}

Buckberry, Sam ^{[6
,7
]}

Guennewig, Boris ^{[8
]}

Haas, Matilda ^{[9
,10
]}

Brown, Alex ^{[6
,7
]}

Cowley, Mark J. ^{[11
,12
,13
]}

Thorne, Natalie ^{[14
,15
,16
]}

Jain, Yatish ^{[17
,18
]}

Bauer, Denis C. ^{[17
,18
,19
]}

机构：

[1] CSIRO, Australian E hlth Res Ctr, Level 3-160 Hawkesbury Rd, Westmead, NSW 2145, Australia

[2] CSIRO, 41 Boggo Rd, Dutton Pk, QLD 4102, Australia

[3] Commonwealth Sci & Ind Res Org Informat Management, Data61, Level 5-13 Garden St, Eveleigh, NSW 2015, Australia

[4] CSIRO, Data61, Bldg 101,Clunies Ross St, Canberra, ACT 2601, Australia

[5] eHlth NSW, Reserve Rd, St Leonards, NSW 2065, Australia

[6] Telethon Kids Inst, Perth, WA 6009, Australia

[7] Australian Natl Univ, John Curtin Sch Med Res, Natl Ctr Indigenous Genom, Canberra, ACT 2601, Australia

[8] Univ Sydney, Sydney Med Sch, Brain & Mind Ctr, 94 Mallett St, Sydney, NSW 2050, Australia

[9] Australian Genom, Parkville, Vic 3052, Australia

[10] Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia

[11] UNSW Sydney, Childrens Canc Inst, Lowy Canc Res Ctr, Lowy Canc Res Ctr Corner Bot, Level 4, Kensington, NSW 2052, Australia

[12] UNSW Sydney, High St,UNSW Kensington Campus, Kensington, NSW 2052, Australia

[13] UNSW Sydney, UNSW Med & Hlth, Sch Clin Med, Fac Med & Hlth, Wallace Wurth Bldg C27,Cnr High St & Bot St, Kensington, NSW 2052, Australia

[14] Univ Melbourne, Melbourne, Vic 3052, Australia

[15] Walter & Eliza Hall Inst Med Res, Melbourne Genom Hlth Alliance, Melbourne 1G,1G Royal Parade, Parkville, Vic 3052, Australia

[16] Walter & Eliza Hall Inst Med Res, 1G,1G Royal Parade, Parkville, Vic 3052, Australia

[17] Macquarie Univ, Appl Biosci, 205B Culloden Rd, Sydney, NSW 2109, Australia

[18] Macquarie Univ, Dept Biomed Sci, MQ Hlth Gen Practice, Suite 305,Level 3-2 Technol Pl, Macquarie Pk, NSW 2109, Australia

[19] Univ Adelaide, Australian Ehlth Res Ctr, CSIRO, Gate 13,Kintore Ave, Adelaide, SA 5000, Australia

来源：

GIGASCIENCE | 2024年 / 13卷

关键词：

genome data privacy; trust model; decentralized systems; self-sovereign identity; dynamic consent; INFORMED-CONSENT; PERSONAL GENOME; K-ANONYMITY; PRIVACY; EDUCATION; ACCESS; ISSUES; MODEL; AGE;

D O I：

暂无

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.<br /> 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.

引用

页数：16

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