'You should at least ask'. the expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

European Journal of Human Genetics

Volumn 24, Issue 10, 2016, Pages 1403-1408

  McCormack, Pauline ^a   Kole, Anna ^b   Gainotti, Sabina ^c   Mascalzoni, Deborah ^d   Molster, Caron ^e   Lochmüller, Hanns ^f   Woods, Simon ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b EURORDIS   (France)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d UPPSALA UNIVERSITY   (Sweden)

^e Office of Population Health Genomics   (Australia)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOMATERIAL;

ARTICLE; BIOINFORMATICS; COMPUTER SECURITY; CONTROLLED STUDY; EXPECTATION; FEAR; FEMALE; GENOMICS; HEALTH CARE ACCESS; HUMAN; INFORMATION PROCESSING; LARGE SCALE PRODUCTION; MAJOR CLINICAL STUDY; MALE; PATIENT ATTITUDE; PRIORITY JOURNAL; RARE DISEASE; REGISTER; ATTITUDE TO HEALTH; ETHICS; EUROPEAN UNION; FACTUAL DATABASE; GENOME-WIDE ASSOCIATION STUDY; INFORMATION DISSEMINATION; PSYCHOLOGY; REINFORCEMENT; STANDARDS; UNITED STATES;

DATABASES, FACTUAL; EUROPEAN UNION; GENOME-WIDE ASSOCIATION STUDY; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; INFORMATION DISSEMINATION; KNOWLEDGE OF RESULTS (PSYCHOLOGY); RARE DISEASES; UNITED STATES;

EID: 84962759514     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.30     Document Type: Article

References (39)

1. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE: Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14: 681-691.
2. Lochmüller H, Aymé S, Pampinella F et al: The role of biobanking in rare diseases: European consensus expert group report. Biopreserv Biobank 2009; 7: 155-156.
3. McCormack P, Woods S, Aartsma-Rus A et al: Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: translating the translational. PLoS Curr 2013; e-pub ahead of print 10 January 2013; doi:10.1371/currents.md.f90b49429fa814bd26c5b22b13d773e.c.
4. Forrest CB, Bartek RJ, Rubinstein Y, Groft SC: The case for a global rare-diseases registry. Lancet 2011; 377: 1057-1059.
5. Bladen CL, Rafferty K, Straub V et al: The TREAT?NMD Duchenne Muscular Dystrophy Registries: conception, design, and utilization by industry and academia. Hum Mutat 2013; 34: 1449-1457.
6. Monaco L, Crimi M, Wang CM: The challenge for a European network of biobanks for rare diseases taken up by RD-connect. Pathobiology 2014; 81: 231-236.
7. Peixoto S: Orphanet: Rare Disease Registries in Europe. Paris: Orphanet, 2015.
8. Lochmüller H, Thompson R: Rare diseases need global solutions: new international initiatives in rare disease omics research. BJSM News 2013; 49: 2-3.
9. Mascalzoni D, Dove ES, Rubinstein Y et al: International Charter of principles for sharing bio-specimens and data. Eur J Hum Genet 2015; 23: 721-728.
10. Knoppers BM: Framework for responsible sharing of genomic and health-related data. HUGO J 2014; 8: 3.
11. Darquy S, Moutel G, Lapointe A-S et al: Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project. Eur J Hum Genet 2015; 24: 338-343.
12. Genetic-Alliance-UK: Genome Sequencing: What do Patients Think?. London, UK: Genetic Alliance UK, 2015.
13. Tabor HK, Stock J, Brazg T et al: Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A 2012; 158A: 1310-1319.
14. Johnsson L, Helgesson G, Hansson MG, Eriksson S: Adequate trust avails, mistaken trust matters: on the moral responsibility of doctors as proxies for patients' trust in biobank research. Bioethics 2012; 27: 485-492.
15. McCormack P, Kole A: Setting up strategies: patient inclusion in biobank and genomics research in Europe. Orphanet J Rare Dis 2014; 9: P2.
16. Khan ME, Anker M, Patel BC, Barge S, Sadhwani H, Kohle R: The use of focus groups in social and behavioural research: some methodological issues. World Health Stat Q 1991; 44: 145-149.
17. Clavering EK, McLaughlin J: Crossing multidisciplinary divides: exploring professional hierarchies and boundaries in focus groups. Qual Health Res 2007; 17: 400-410.
18. Hazel N: Elicitation techniques with young people. Soc Res Updat 1995; 12.
19. Finch J: The vignette technique in survey research. Sociology 1987; 21: 105-114.
20. Barter C, Renold E: 'I wanna tell you a story': exploring the application of vignettes in qualitative research with children and young people. Int J Soc Res Methodol 2000; 3: 307-323.
21. Rothstein MA: Genetic exceptionalism & legislative pragmatism. Hastings Cent Rep 2005; 35: 27-33.
22. Leonhard C: The unbearable lightness of consent in Contract Law. Case W Res L Rev 2012; 63: 57.
23. Oakley A, Ashton J: The Gift Relationship: From Human Blood to Social Policy. London, UK: London School of Economics and Political Science, (LSE), 1997.
24. Hayden EC: A broken contract. Nature 2012; 486: 312-314.
25. O'Doherty KC, Burgess MM, Edwards K et al: From consent to institutions: designing adaptive governance for genomic biobanks. Soc Sci Med 2011; 73: 367-374.
26. Garrison NA, Sathe NA, Antommaria AHM et al: A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. Genet Med 2015; e-pub ahead of print 19 November 2015; doi:10.1038/gim.2015.138
27. Gottweis H, Gaskell G, Starkbaum J: COMMENT connecting the public with biobank research: reciprocity matters. Nat Rev Genet 2011; 12: 738-739.
28. Hens K, Levesque E, Dierickx K: Children and biobanks: a review of the ethical and legal discussion. Hum Genet 2011; 130: 403-413.
29. Rush A, Battisti R, Barton B, Catchpoole D: Opinions of young adults on re-consenting for biobanking. J Pediatrics 2015; 167: 925-930.
30. Levy D, Splansky GL, Strand NK et al: Consent for genetic research in the Framingham Heart Study. Am J Med Genet A 2010; 152A: 1250-1256.
31. Laur A: Fear of e-Health records implementation? Med Leg J 2014; 83: 34-39.
32. Lemke AA, Wolf WA, Hebert-Beirne J, Smith ME: Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics 2010; 13: 368-377.
33. McGuire AL, Hamilton JA, Lunstroth R, McCullough LB, Goldman A: DNA data sharing: research participants' perspectives. Genet Med 2008; 10: 46-53.
34. Goffman E: Stigma. Englewood Cliffs, NJ, USA: Spectrum, 1963.
35. Carnevale FA: Revisiting Goffman's stigma: the social experience of families with children requiring mechanical ventilation at home. J Child Health Care 2007; 11: 7-18.
36. Lapham EV, Kozma C, Weiss JO: Genetic discrimination: perspectives of consumers. Science 1996; 274: 621-624.
37. Geelen E, Horstman K, Marcelis CL, Doevendans PA, Van Hoyweghen I: Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts. Eur J Hum Genet 2012; 20: 1018-1023.
38. Office-of-the-Privacy-Commissioner-of-Canada: Genetic Information, the Life and Health Insurance Industry and the Protection of Personal Information: Framing the Debate. Gatineau, QC, Canada: Office-of-the-Privacy-Commissioner-of-Canada, 2012.
39. Gottweis H, Chen H, Starkbaum J: Biobanks and the phantom public. Hum Genet 2011; 130: 433-440.