title: The risk of re-identification versus the need to identify individuals in rare disease research.
abstract: There is a growing concern in the ethics literature and among policy makers that de-identification or coding of personal data and biospecimens is not sufficient for protecting research subjects from privacy invasions and possible breaches of confidentiality due to the possibility of unauthorized re-identification. At the same time, there is a need in medical science to be able to identify individual patients. In particular for rare disease research there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. In this article, we identify the needs and arguments related to de-identification and re-identification of patients and research subjects and suggest how the different needs may be balanced within a framework of using unique encrypted identifiers.
authors.affiliation: Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
authors.forename: Mats G
authors.initials: MG
authors.lastname: Hansson
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.affiliation: Institute of Medical Genetics and Applied Genomics, Rare Disease Center, University of Tübingen, Tübingen, Germany.
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
authors.affiliation: Division of Pediatric Nephrology, Heidelberg University Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.
authors.forename: Franz
authors.initials: F
authors.lastname: Schaefer
authors.affiliation: Department of Neurology, Ulm University Hospital, Ulm, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Orth
authors.affiliation: Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA.
authors.forename: Yaffa
authors.initials: Y
authors.lastname: Rubinstein
authors.affiliation: Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health Government of Western Australia, Perth, WA, Australia.
authors.forename: Caron
authors.initials: C
authors.lastname: Molster
authors.affiliation: Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health Government of Western Australia, Perth, WA, Australia.|Centre for Comparative Genomics, Murdoch University, Murdoch, WA, Australia.|Centre for Population Health Research, Curtin University of Technology, Bentley, WA, Australia.|School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia.
authors.forename: Hugh
authors.initials: H
authors.lastname: Dawkins
authors.affiliation: National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: Institute of rare Diseases research, ISCIII, SpainRDR and CIBERER, Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada
authors.affiliation: Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Woods
mesh_terms: D035843:Biomedical Research / Q000941:ethics / Q000331:legislation & jurisprudence / Q000379:methods; D030661:Genetic Privacy / Q000941:ethics* / Q000331:legislation & jurisprudence; D005820:Genetic Testing / Q000941:ethics* / Q000331:legislation & jurisprudence / Q000379:methods; D006801:Humans; D007391:International Cooperation; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics*