Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience

Public Health Genomics

Volumn 19, Issue 1, 2016, Pages 19-24

  Douzgou, Sofia ^a,c   Pollalis, Yiannis A ^a   Vozikis, Athanassios ^a   Patrinos, George P ^b   Clayton Smith, Jill ^c  

^a UNIVERSITY OF PIRAEUS   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Access; Community genetic services; European Commission; Genetic disorders; Genetic services; Rare diseases

Indexed keywords

ARTICLE; BODY DYSMORPHIC DISORDER; CONGENITAL MALFORMATION; CROWDSOURCING; EUROPEAN COMMISSION PUBLIC HEALTH EXECUTIVE AGENCY; EUROPEAN UNION; FUNDING; GENETIC DISORDER; HEALTH CARE COST; HEALTH CARE ORGANIZATION; HEALTH CARE QUALITY; HEALTH SERVICE; HUMAN; INTERNET; ONLINE SYSTEM; PATIENT CARE; PRIORITY JOURNAL; RARE DISEASE; COOPERATION; EUROPE; GENETIC DISEASES, INBORN; GENETIC SERVICE; ORGANIZATION AND MANAGEMENT; PROCEDURES; RARE DISEASES;

COOPERATIVE BEHAVIOR; CROWDSOURCING; EUROPE; GENETIC DISEASES, INBORN; GENETIC SERVICES; HUMANS; RARE DISEASES;

EID: 84955192749     PISSN: 16624246     EISSN: 16628063     Source Type: Journal    
DOI: 10.1159/000440710     Document Type: Article

References (23)

1. Biesecker LG: Exome sequencing makes medical genomics a reality. Nat Genet 2010;42:13-14.
2. Mette L, Mitropoulos K, Vozikis A, Patrinos GP: Pharmacogenomics and public health: implementing 'populationalized' medicine. Pharmacogenomics 2012;13:803-813.
3. Institute of Medicine: Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic Information to Improve Patient Care and Research: Workshop Summary. Washington, The National Academies Press, 2015.
4. Newman WG, Black GC: Delivery of a clinical genomics service. Genes (Basel) 2014;5:1001-1017.
5. Alzu'bi A, Zhou L, Watzlaf V: Personal genomic information management and personalized medicine: challenges, current solutions, and roles of HIM professionals. Perspect Health Inf Manag 2014;11:1c.
6. Estellés-Arolas E, González-Ladrón-de-Guevara F: Towards an integrated crowdsourcing definition. J Inform Sci 2012;38:189-200.
7. Howe J: Crowdsourcing. Why the Power of the Crowd Is Driving the Future of Business. New York, Crown Business, Penguin Random House Network, 2009.
8. Majchrzak A, Malhotrac A: Towards an information systems perspective and research agenda on crowdsourcing for innovation. J Strateg Inform Syst 2013;22:257-268.
9. Giardine B, Borg J, Higgs DR, Peterson KR, et al: Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 2011;43:295-301.
10. Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013;45:1160-1167.
11. Swan M: DIY genomics crowdsourced health research studies: personal wellness and preventive medicine through collective intelligence. AAAI Technical Report SS-12-05, Self-Tracking and Collective Intelligence for Personal Wellness. Palo Alto, Association for the Advancement of Artificial Intelligence, 2011.
12. Cooper DN, Brand A, Dolzan V, Fortina P, Innocenti F, Lee M, Macek M Jr, Al-Mulla F, Prainsack B, Squassina A, Vayena E, Vozikis A, Williams MS, Patrinos GP: Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance. Pers Med 2014;11:615-623.
13. Boudreau KJ, Lakhani KR: Using the crowd as an innovation partner. Harv Bus Rev 2013;91:60-69, 140.
14. McCandless SE, Brunger JW, Cassidy SB: The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 2004;74:121-127; erratum in Am J Hum Genet 2004;74:788.
15. Cohen MM Jr: The Child with Multiple Birth Defects, ed 2. New York, Oxford University Press, 1997.
16. Aymé S, Rodwell C (eds): 2012 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases, European Union Committee of Experts on Rare Diseases (EUCERD), EUCERD Joint Action: Working for Rare Diseases, No 2011 22 01. Brussels, European Union, 2012.
17. Moeschler JB, Shevell M; the American Academy of Pediatrics Committee on Genetics: Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006;117:2304-2316.
18. Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J: Dysmorphology services: a snapshot of current practices and a vision for the future. Clin Genet DOI: 10.1111/cge.12571.
19. Douzgou S, Clayton-Smith J; the DYSCERNE expert panel: Dysmorphology at a distance: results of a web-based diagnostic service. Eur J Hum Genet 2014;22:327-332.
20. McAllister M, Payne K, Nicholls S, MacLeod R, Donnai D, Davies LM: Improving service evaluation in clinical genetics: identifying effects of genetic diseases on individuals and families. J Genet Couns 2007;16:71-83.
21. Swan M: Health 2050: The realization of personalized medicine through crowdsourcing, the quantified self, and the participatory biocitizen. J Pers Med 2012;93-118.
22. Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, et al: Global implementation of genomic medicine: we are not alone. Sci Transl Med 2015;7:290ps13.
23. Ranard BL, Ha YP, Meisel ZF, Asch DA, Hill SS, Becker LB, Seymour AK, Merchant RM: Crowdsourcing - harnessing the masses to advance health and medicine, a systematic review. J Gen Intern Med 2014;29:187-203.