The challenges of the expanded availability of genomic information: an agenda-setting paper

Journal of Community Genetics

Volumn 9, Issue 2, 2018, Pages 103-116

  Borry, Pascal ^a,b   Bentzen, Heidi Beate ^c,d,e   Budin Ljøsne, Isabelle ^d,e,f   Cornel, Martina C ^g   Howard, Heidi Carmen ^h   Feeney, Oliver ⁱ   Jackson, Leigh ^j   Mascalzoni, Deborah ^h,k   Mendes, Álvaro ^l   Peterlin, Borut ^m   Riso, Brigida ⁿ   Shabani, Mahsa ^a,b   Skirton, Heather ^o   Sterckx, Sigrid ^p   Vears, Danya ^a,b   Wjst, Matthias ^q,r   Felzmann, Heike ⁱ  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b KU Leuven   (Belgium)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF OSLO   (Norway)

^e Norwegian Cancer Genomics Consortium   (Norway)

^f NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UPPSALA UNIVERSITY   (Sweden)

ⁱ NATIONAL UNIVERSITY OF IRELAND   (Ireland)

^j UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^k INSTITUTE FOR RENEWABLE ENERGY   (Italy)

^l UNIVERSITY OF PORTO   (Portugal)

^m UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

ⁿ INSTITUTO UNIVERSITÁRIO DE LISBOA ISCTE IUL   (Portugal)

^o UNIVERSITY OF PLYMOUTH   (United Kingdom)

^p GHENT UNIVERSITY   (Belgium)

^q INSTITUTE OF EPIDEMIOLOGY   (Germany)

^r TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

Clinical and research genomic data; Data sharing; Direct to consumer genetic testing; Genomics; Informed consent; Return of results

Indexed keywords

ACCESS TO INFORMATION; ARTICLE; CLINICAL RESEARCH; DATA PROCESSING; DATA SHARING; EVIDENCE BASED MEDICINE; GENE INTERACTION; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC COUNSELING; GENETIC SCREENING; GENOMIC INFORMATION; GENOTYPE; HUMAN; INFORMATION PROCESSING; MICROARRAY ANALYSIS; PATIENT PREFERENCE; PRIORITY JOURNAL; PROCESS DEVELOPMENT; PUBLIC HEALTH; PUBLIC-PRIVATE PARTNERSHIP;

EID: 85029899417     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-017-0331-7     Document Type: Article

References (127)

1. Appelbaum PS (2007) Assessment of patients’ competence to consent to treatment. N Engl J Med 357:1834–1840
2. Arias JJ, Pham-Kanter G, Gonzalez R, Campbell EG (2016) Trust, vulnerable populations, and genetic data sharing. J Law Biosci 2:747–753
3. Árnason E, Andersen B (2013) deCODE and Iceland: a critique. eLS
4. Ayme S, JRC LG, Matthijs G, Borry P (2013) European workshop on genetic testing offer in Europe. EUR-Scientific and Technical Research Reports
5. Babkina N, Graham JM Jr (2014) New genetic testing in prenatal diagnosis.Semin Fetal Neonatal Med 19(3):214–9
6. Badalato L, Kalokairinou L, Borry P (2017) Third party interpretation of raw genetic data: an ethical exploration. Eur J Hum Genet. https://doi.org/10.1038/ejhg.2017.126
7. Barbui C (2016) Sharing all types of clinical data and harmonizing journal standards. BMC Medicine 14:1
8. Barsh GS, Cooper GM, Copenhaver GP, Gibson G, McCarthy MI, Tang H, Williams SM (2015) PLOS genetics data sharing policy: in pursuit of functional utility. PLoS Genet 11:e1005716
9. Battistuzzi L, Ciliberti R, Forzano F, De Stefano F (2012) Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure. Clinical Genetics 82:205–209
10. Bentzen HB, Svantesson DJB (2017) Jurisdictional challenges related to DNA data processing in transnational clouds. Transatlantic data privacy relationships as a challenge for democracy, vol 4. European Integration and Democracy Series edn. Intersentia, Mortsel, Belgium
11. Bobrow M (2015) Funders must encourage scientists to share. Nature 522:129–129
12. Bradbury AR et al (2014) Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genetics in Medicine 17:485–492
13. Budin-Ljøsne I, Isaeva J, Knoppers BM, Tassé AM, Shen H-Y, MI MC, Harris JR (2014) Data sharing in large research consortia: experiences and recommendations from ENGAGE. Eur J Hum Genet 22:317–321
14. Budin-Ljøsne I et al (2016) Feedback of individual genetic results to research participants: is it feasible in Europe? Biopreserv Biobanking 14:241–248
15. Budin-Ljøsne I et al (2017) Dynamic consent: a potential solution to some of the challenges of modern biomedical research. BMC Medical Ethics 18:4
16. Burn J (2016) A federated ecosystem for sharing genomic, clinical data. Science 352:1278–1280. https://doi.org/10.1126/science.aaf6162
17. Caleshu C, Ashley EA (2016) Taming the genome: towards better genetic interpretation. Genome Med 8:70
18. Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE (2017a) Recontacting in clinical genetics and genomic medicine? We need to talk about it. Eur J Hum Genet. 25(5):520–521
19. Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, Kelly SE (2017b) Recontacting in clinical practice: Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. Eur J Hum Genet 25(10):1106–1112
20. Caulfield T, Borry P, Toews M, Elger BS, Greely HT, McGuire A (2015) Marginally scientific? Genetic testing of children and adolescents for lifestyle and health promotion. J Law Biosci 2(3):627–644
21. Caulfield T et al (2014) A review of the key issues associated with the commercialization of biobanks. J Law Biosci 1:94–110
22. Chalmers D, Nicol D (2004) Commercialisation of biotechnology: public trust and research International. J Biotechnol 6:116–133
23. Contreras JL (2014) Constructing the genome commons. In: Frishcmann B, Madison M, Strandburg K (eds) Governing knowledge commons. Oxford University Press, Oxford, UK
24. Cook-Deegan R, Conley JM, Evans JP, Vorhaus D (2013) The next controversy in genetic testing: clinical data as trade secrets? Eur J Hum Genet 21:585–588
25. Costa FF (2012) Big data in genomics: challenges and solutions. GIT Lab J 11:1–4
26. Critchley CR, Nicol D (2009) Understanding the impact of commercialization on public support for scientific research: is it about the funding source or the organization conducting research? Public Underst Sci 20:347–366
27. Crozier GK, Hajzler C (2010) Market stimulus and genomic justice: evaluating the effects of market access to human germ-line enhancement. Kennedy Inst Ethics J 20:161–179
28. D’Audiffret van Haecke D, de Montgolfier S (2016) Genetic test results and disclosure to family members: qualitative interviews of healthcare professionals’ perceptions of ethical and professional issues in France. J Genet Couns 25:483–494
29. Daly MB, Montgomery S, Bingler R, Ruth K (2016) Communicating genetic test results within the family: is it lost in translation? A survey of relatives in the randomized six-step study. Fam Cancer 15:697–706
30. de Geus E, Eijzenga W, Menko FH, Sijmons RH, de Haes HC, Aalfs CM, Smets EM (2016) Design and feasibility of an intervention to support cancer genetic counselees in informing their at-risk relatives. J Genet Couns 25:1179–1187
31. Department of Health UK (2013) Healthcare: public private partnerships. Department of Health, London, UK
32. Dheensa S, Fenwick A, Lucassen A (2016) ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics 42:145–146
33. Dheensa S, Fenwick A, Shkedi-Rafid S, Crawford G, Lucassen A (2015a) Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research. Genet Med
34. Dheensa S, Fenwick A, Shkedi-Rafid S, Crawford G, Lucassen A (2015b) Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research. Genet Med 18:290–301
35. Dove ES, Joly Y, Knoppers BM (2012) Power to the people: a Wiki-governance model for biobanks. Genome Biol 13:1
36. EASAC and FEAM Working Group (2012) Direct-to-consumer genetic testing for health-related purposes in the European Union. EASAC Policy Paper 18. Available at: http://www.easac.eu/fileadmin/Reports/EASAC_Genetic_Testing_Web_complete.pdf Accessed on 15 Sept 2017
37. Eisenstein M (2015) Big data: the power of petabytes. Nature 527:S2–S4
38. Eisler I et al (2017) Training genetic counsellors to deliver an innovative therapeutic intervention: their views and experience of facilitating multi-family discussion groups. J Genet Couns 26:199–214
39. Erlich Y et al (2014) Redefining genomic provacy: trust and empowerment. PLoS Biol 12:e1001983
40. Expert Advisory Group on Data Access (2015) Governance of data access. Wellcome Trust, London
41. Farrelly C (2007) Gene patents and justice. J Value Inq 41:147–163
42. Federal Trade Commission (2014) Data brokers: a call for transparency and accountability. A report of the Federal Trade Commission (May 2014). Available from www.ftc.gov/system/files/documents/reports/data-brokers-call-transparency-accountabilityreport-federal-trade-commission-may-2014/140527databrokerreport.pdf
43. Feeney O (2012) Incentives, genetics and the egalitarian ethos. Ethical Perspect 19:83
44. Forrest LE, Delatycki MB, Skene L, Aitken M (2007) Communicating genetic information in families—a review of guidelines and position papers. Eur J Hum Genet 15:612–618
45. Gershon ES, Alliey-Rodriguez N (2013) New ethical issues for genetic counseling in common mental disorders. Am J Psychiatry
46. Gomez-Lobo V (2014) Multidisciplinary care for individuals with disorders of sex development. Curr Opin Obstet Gynecol 26:366
47. Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT (2013) Personalized genomic disease risk of volunteers. Proc Natl Acad Sci 110:16957–16962
48. Grody WW, Thompson BH, Hudgins L (2013) Whole-exome/genome sequencing and genomics. Pediatr 132:S211–S215
49. Gymrek M, McGuire AL, Golan D, Halperin E, Erlich Y (2013) Identifying personal genomes by surnmae inference. Sci 339:321–324
50. Hallowell N, Hall A, Alberg C, Zimmern R (2015) Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issue. J Med Ethics 41:317–321
51. Hawkins N, de Vries J, Boddington P, Kaye J, Heeney C (2009) Planning for translational research in genomics. Genome Med 1:1
52. Hayden EC (2012) A broken contract. Nature 486:312–314
53. Hodgson J, Gaff C (2013) Enhancing family communication about genetics: ethical and professional dilemmas. J Genet Couns 22:16–21
54. Homer N et al (2008) Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 4:e1000167
55. Hong W, Walsh JP (2009) For money or glory? Commercialization, competition, and secrecy in the entrepreneural university. Soc Q 50:145–171
56. Howard HC, Borry P (2012) Is there a doctor in the house? J Community Genet 3:105–112
57. Human Genome Organisation (1996) Summary of principles agreed at the first international strategy meeting on human genome sequencing. Human Genome Organization. Available at: http://www.casimir.org.uk/storyfiles/64.0.summary_of_bermuda_principles.pdf
58. Iacobazzi V, Infantino V, Castegna A, Andria G (2014) Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues. Mol Genet Metab 113:27–33
59. Joly Y, Saulnier KM, Osien G, Knoppers BM (2014) The ethical framing of personalized medicine. Curr Opin Allergy Clin Immunol 14:404–408
60. Kalokairinou L, Howard HC, Borry P (2015) Current developments in the regulation of direct-to-consumer gentic testing in Europe. Med Law Int 15:97–123
61. Katsanis SH, Katsanis N (2013) Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 14:415–426
62. Kaye J (2011) From single biobanks to international networks: developing e-governance. Human Genetics 130:377–382
63. Kaye J, Hawkins N (2014) Data sharing policy design for consortia: challenges for sustainability. Genome Med 6:1
64. Kaye J, Muddyman D, Smee C, Kennedy K, Bell J (2015a) ‘Pop-Up’ Governance: developing internal governance frameworks for consortia: the example of UK10K. Life Sci, Soc Policy 11:1
65. Kaye J, Whitley EA, Lund D, Morrison M, Teare H, Melham K (2015b) Dynamic consent: a patient interface for twenty-first century research networks. Eur J Hum Genet 23:141–146
66. Knoppers BM, Harris JR, Tassé AM, Budin-Ljøsne I, Kaye J, Deschênes M, Zawati MZ (2011) Towards a data sharing Code of Conduct of international genomic research. Genome Med 3:1
67. Knoppers BM, Sénécal K, Borry P, Avard D (2014) Whole-genome sequencing in newborn screening programs. Sci Transl Med 6(229):229cm222
68. Lazaridis I et al (2016) Genomic insights into the origin of farming in the ancient near east. Nature 536:419–424
69. Lemke A, Wolf W, Hebert-Beirne J, Smith M (2010) Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics 13:368–377
70. Levenson D (2014) Whole-exome sequencing emerges as clinical diagnostic tool. American Journal of Medical Genetics Part A 164:ix–ix
71. Levenson D (2016) Genetic discrimination lawsuit raises broader concerns about testing, privacy: case involves middle school student impacted by results of genetic screening test as newborn. Obstet Gynecol Surv 71:519–520
72. Lupton D (2015) Digital health technologies and digital data: new ways of monitoring, measuring and commodifying human embodiment, health and illness. In: Olleros FX, Zhegu M (eds) Research handbook on digital transformations. Edward Elgar, Cheltenham, pp 85–102
73. Majumder MA, Cook-Deegan R, McGuire AL (2016) Beyond our borders? Public resistance to global genomic data sharing. PLoS Biol 14:e2000206
74. Manolio TA et al (2013) Implementing genomic medicine in the clinic: the future is here. Genet Med 15:258–267
75. Mascalzoni D, Hicks A, Pramstaller P, Wjst M (2008) Informed consent in the genomics era. PLoS Med 5:e192
76. McGuire AL, Burke W (2011) Health system implications of direct-to-consumer personal genome testing. Public Health Genom 14:53–58. https://doi.org/10.1159/000321962
77. Mesters I, Ausems M, Eichhorn S, Vasen H (2005) Informing one’s family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study. Familial Cancer 4:163–167
78. Middleton A, Hall G, Patch C (2015) Genetic counselors and genomic counseling in the United Kingdom. Mol Genet Genomic Med 3:79–83
79. Mitchell R, Conley JM, Davis AM, Cadigan RJ, Dobson AW, Gladden RQ (2011) Genomics, biobanks, and the trade-secret model. Science 332:309–310
80. Mittelstadt BD, Floridi L (2016) The ethics of big data: current and foreseeable issues in biomedical contexts. Sc Eng Ethics 22:303–341
81. Morrison C, Trump D, Nowak JA (2014) How will the “$1,000 dollar genome” meet reality (and centers for Medicare & Medicaid Services)? Arch Pathol Lab Med 139:581–582
82. National Institutes of Health (2014) NIH genomic data sharing policy. Available at: https://grants.nih.gov/grants/guide/notice-files/NOT-OD-14-124.html. Accessed on 15 September 2017
83. Niemiec E, Howard HC (2016) Ethical issues in consumer genome sequencing: use of consumers’ samples and data. Appl Transl Genomics 8:23–30
84. Nobile H, Vermeulen E, Thys K, Bergmann MM, Borry P (2013) Why do participants enroll in population biobank studies? A systematic literature review. Expert Rev Mol Diagn 13:35–47
85. Novas C, Rose N (2000) Genetic risk and the birth of the somatic individual. Expert Rev Mol Diagn 29:485–513
86. O’Doherty KC et al (2016) If you build it, they will come: unintended future uses of organised health data collections. BMC Med Ethics 17:54
87. O’Riordan K (2016) The genome incorporated: constructing biodigital identity. Routledge
88. Otlowski M (2013) Australian reforms enabling disclosure of genetic information to genetic relatives by health practitioners. J Law Med 21:217–234
89. Paneque M et al (2017) Implementing genetic education in primary care: the Gen-Equip programme. J Community Genet 8:147–150
90. Pereira S, Gibbs RA, McGuire AL (2014) Open access data sharing in genomic research. Genes 5:739–747
91. Pomey M-P, Ghadiri DP, Karazivan P, Fernandez N, Clavel N (2015) Patients as partners: a qualitative study of patients’ engagement in their health care. PloS one 10:e0122499
92. Ream MA, Mikati MA (2014) Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. Epilepsy Behav 37:241–248
93. Rehm HL (2017) Evolving health care through personal genomics. Nat Rev Genet 18:259–267. https://doi.org/10.1038/nrg.2016.162
94. Rigter T et al (2013) Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Human Mutation 34:1322–1328
95. Roberts JL, Pereira S, McGuire AL (2017) Should you profit from your genome? Nat Biotechnol 35:18–20
96. Rothstein MA (2010) Is deidentification sufficient to protect health privacy in research? Am J Bioeth 10:3–11
97. Severin F et al (2015) Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. European Journal of Human Genetics, 735 23:729
98. Shabani M, Bezuidenhout L, Borry P (2014) Attitudes of research participants and the general public towards genomic data sharing: a systematic literature review. Expert Rev Mol Diagn 14:1053–1065
99. Shabani M, Borry P (2015) Challenges of web-based personal genomic data sharing. Life Sci Soc Policy 11:1
100. Shabani M, Dyke SO, Joly Y, Borry P (2015a) Controlled access under review: improving the governance of genomic data access. PLoS Biol 13:e1002339
101. Shabani M, Knoppers BM, Borry P (2015b) From the principles of genomic data sharing to the practices of data access committees. Attitudes of research participants and the general public towards genomic data sharing: a systematic literature review. EMBO Mol Med 7:507–509
102. Shringarpure SS, Bustamante CD (2015) Privacy risks from genomic data-sharing beacons. Am J Hum Genet 97:631–646
103. Skirton H, Goldsmith L, Jackson L, O’Connor A (2012) Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin Genet 82:210–218
104. Soden SE et al (2014) Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 6(265):265ra168
105. Stemerding D, Krom A (2013) Expert paper for the future panel on public health genomics
106. Stephens ZD et al (2015) Big data: astronomical or genomical? PLoS Biol 13:e1002195
107. Sterckx S, Cockbain J (2016) The natural, the informational, the claimable? Human body material in US and European patent law. In: van Klink B, van Beers B, Poort L (eds) Symbolic legislation theory and developments in biolaw. Springer, pp 215–236
108. Teare HJ, Morrison M, Whitley EA, Kaye J (2015) Towards ‘engagement 2.0’: insights from a study of dynamic consent with biobank participants digital. Health 1:2055207615605644
109. Tercyak KP et al (2013) Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children. Cancer Epidemiol Biomark Prev 22:1260–1266
110. The Organisation for Economic Cooperation and Development (2007) Guidelines for access to research data from public funding. OECD, Paris, France
111. Thielking M (2016) Opposition stirring to Kuwaiti law mandating DNA tests for all residents. STAT, Boston, MA
112. Trinidad SB, Fullerton SM, Bares JM, Jarvik GP, Larson EB, Burke W (2010) Genomic research and wide data sharing: views of prospective participants. Genet Med 12:486–495
113. van El CG et al (2013) Whole-genome sequencing in health care. Eur J Hum Genet 21:S1–S5
114. van Zelst-Stams WA, Scheffer H, Veltman JA (2014) Clinical exome sequencing in daily practice: 1,000 patients and beyond. Genome Med 6:1
115. Vasta V, Merritt I, Lawrence J, Saneto RP, Hahn SH (2012) Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. Pediatr Int 54:585–601
116. Vears DF, Senecal K, Borry P (2017a) Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: perspectives of laboratory personnel. Hum Mutat 38:905–911. https://doi.org/10.1002/humu.23259
117. Vears DF, Senecal K, Borry P (2017b) Reporting practices for variants of uncertain significance from next generation sequencing technologies. Eur J Med Genet. https://doi.org/10.1016/j.ejmg.2017.07.016
118. Vos J, Jansen AM, Menko F, Van Asperen CJ, Stiggelbout AM, Tibben A (2011) Family communication matters: the impact of telling relatives about unclassified variants and uninformative DNA-test results. Genet Med 13:333–341
119. Walport M, Brest P (2011) Sharing research data to improve public health. The Lancet 377:537–539
120. Weaver M (2016) The double helix: applying an ethic of care to the duty to warn genetic relatives of genetic information. Bioethics 30:181–187
121. Werner-Felmayer G (2014) Consequences of sequences, codes and messages: artistic and scientific readings of chromosomes in an era of consumerism. In: Prainsack B, Schicktanz S, Werner-Felmayer G (eds) Genetics as social practice: transdisciplinary views on science and culture. Ashgate, Surrey, pp 107–128
122. Widdows H (2013) The connected self: the ethics and governance of the genetic individual. Cambridge University Press, Cambridge
123. Wilbanks J, Friend SH (2016) First, design for data sharing. Nat Biotech 34:377–379. https://doi.org/10.1038/nbt.3516
124. Williams G, Pigeot I (2017) Consent and confidentiality in the light of recent demands for data sharing. Biom J 59:240–250
125. Williams H, Spencer K, Sanders C, Lund D, Whitley EA, Kaye J, Dixon WG (2015) Dynamic consent: a possible solution to improve patient confidence and trust in how electronic patient records are used in medical research. JMIR Med Inform 3:e3
126. Wjst M (2010) Caught you: threats to confidentiality due to the public release of large-scale genetic data sets. BMC Med Ethics 11:1
127. Zerhouni EA, Sanders CA, von Eschenbach AC (2007) The biomarkers consortium: public and private sectors working in partnership to improve the public health. Oncol 12:250–252