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

Human Genomics

on behalf of the Participant Values Task Team of the Global Alliance for Genomics and Health¹  Manuel Corpas²  Adrian Thorogood³  Erika Kleiderman³  Barbara Prainsack⁴  Natasha Bonhomme⁵  Erick Scott⁶  Jason Bobe⁷  Laura Lyman Rodriguez⁸  Madeleine Murtagh⁹  Anna Middleton^1,10  Sarah Nelson^1,11 

[1] ;Cambridge Precision Medicine;Centre of Genomics and Policy, Department of Human Genetics, McGill University Faculty of Medicine;Department of Political Science, University of Vienna;Genetic Alliance;Icahn Institute for Genomics & Multiscale Biology;Icahn School of Medicine at Mount Sinai;National Human Genome Research Institute, National Institutes of Health;Newcastle University;Society and Ethics Research, Connecting Science, Wellcome Genome Campus;University of Washington;

关键词: Ethics;    Law;    Genomic data;    Individual access;    Whole genome sequencing;    Direct-to-consumer;   

DOI  :  10.1186/s40246-018-0139-5

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown