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Potential research participants support the return of raw sequence data
  1. Anna Middleton1,
  2. Caroline F Wright1,
  3. Katherine I Morley2,3,
  4. Eugene Bragin1,
  5. Helen V Firth4,
  6. Matthew E Hurles1,
  7. Michael Parker5
  8. on behalf of the DDD study
  1. 1Wellcome Trust Sanger Institute, Cambridge, UK
  2. 2Addictions Department, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK
  3. 3Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
  4. 4Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK
  5. 5Nuffield Department of Population Health, The Ethox Centre, University of Oxford, Oxford, UK
  1. Correspondence to Dr Anna Middleton, Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK; am33{at}sanger.ac.uk

Abstract

Health-related results that are discovered in the process of genomic research should only be returned to research participants after being clinically validated and then delivered and followed up within a health service. Returning such results may be difficult for genomic researchers who are limited by resources or unable to access appropriate clinicians. Raw sequence data could, in theory, be returned instead. This might appear nonsensical as, on its own, it is a meaningless code with no clinical value. Yet, as and when direct to consumer genomics services become more widely available (and can be endorsed by independent health professionals and genomic researchers alike), the return of such data could become a realistic proposition. We explore attitudes from <7000 members of the public, genomic researchers, genetic health professionals and non-genetic health professionals and ask participants to suggest what they would do with a raw sequence, if offered it. Results show 62% participants were interested in using it to seek out their own clinical interpretation. Whilst we do not propose that raw sequence data should be returned at the moment, we suggest that should this become feasible in the future, participants of sequencing studies may possibly support this.

  • Diagnosis
  • Genetics
  • Genome-wide
  • Getting Research into Practice
  • Ethics

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

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