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

被引：40

作者：

Thorogood, Adrian ^{[1
]}

Bobe, Jason ^{[2
]}

Prainsack, Barbara ^{[3
,11
]}

Middleton, Anna ^{[4
,12
]}

Scott, Erick ^{[5
]}

Nelson, Sarah ^{[6
]}

Corpas, Manuel ^{[7
]}

Bonhomme, Natasha ^{[8
]}

Rodriguez, Laura Lyman ^{[9
]}

Murtagh, Madeleine ^{[10
]}

Kleiderman, Erika ^{[1
]}

机构：

[1] McGill Univ, Fac Med, Dept Human Genet, Ctr Genom & Policy, Montreal, PQ H3A 0G1, Canada

[2] Icahn Sch Med Mt Sinai, New York, NY 10029 USA

[3] Univ Vienna, Dept Polit Sci, Vienna, Austria

[4] Connecting Sci, Soc & Eth Res, Wellcome Genome Campus, Hinxton, England

[5] Icahn Inst Genom & Multiscale Biol, New York, NY USA

[6] Univ Washington, Seattle, WA 98195 USA

[7] Cambridge Precis Med, Cambridge, England

[8] Genet Alliance, Washington, DC USA

[9] NHGRI, NIH, Bethesda, MD 20892 USA

[10] Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England

[11] Kings Coll London, Dept Global Hlth & Social Med, London, England

[12] Univ Cambridge, Fac Educ, Cambridge, England

来源：

HUMAN GENOMICS | 2018年 / 12卷

基金：

加拿大健康研究院;

关键词：

Ethics; Law; Genomic data; Individual access; Whole genome sequencing; Direct-to-consumer; Privacy; Raw genomic data; Patient engagement; Citizen science; PERSONAL GENOME; RETURN;

D O I：

10.1186/s40246-018-0139-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. Main body: We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data. Individuals have a legal right to access their genomic data in some countries and contexts. Moreover, increasing numbers of participatory research projects, direct-to-consumer genetic testing companies, and now major national sequencing initiatives grant individuals access to their genomic sequence data upon request. Conclusion: Drawing on current practice and regulatory analysis, we outline legal, ethical, and practical guidance for genomic sequencing initiatives seeking to offer interested patients and participants access to their raw genomic data.

引用

页数：6

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