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Hum Genomics. 2018 Feb 17;12(1):7. doi: 10.1186/s40246-018-0139-5.

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

Author information

1
Centre of Genomics and Policy, Department of Human Genetics, McGill University Faculty of Medicine, Montreal, Quebec, H3A 0G1, Canada. adrian.thorogood@mcgill.ca.
2
Icahn School of Medicine at Mount Sinai, New York, USA.
3
Department of Political Science, University of Vienna, Vienna, Austria.
4
Department of Global Health & Social Medicine, King's College London, London, UK.
5
Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Hinxton, UK.
6
Faculty of Education, University of Cambridge, Cambridge, UK.
7
Icahn Institute for Genomics & Multiscale Biology, New York, USA.
8
University of Washington, Seattle, USA.
9
Cambridge Precision Medicine, Cambridge, UK.
10
Genetic Alliance, Washington DC, USA.
11
National Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
12
Newcastle University, Newcastle upon Tyne, UK.
13
Centre of Genomics and Policy, Department of Human Genetics, McGill University Faculty of Medicine, Montreal, Quebec, H3A 0G1, Canada.

Abstract

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.

KEYWORDS:

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

PMID:
29454384
PMCID:
PMC5816450
DOI:
10.1186/s40246-018-0139-5
[Indexed for MEDLINE]
Free PMC Article

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