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

Adrian Thorogood*, Jason Bobe, Barbara Prainsack, Anna Middleton, Erick Scott, Sarah Nelson, Manuel Corpas, Natasha Bonhomme, Laura Lyman Rodriguez, Madeleine Murtagh, Erika Kleiderman

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

48 Citations (Scopus)

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.

Original languageEnglish
Article number7
JournalHuman Genomics
Volume12
Issue number1
DOIs
Publication statusPublished - 26 Jan 2018

Keywords

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

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