Whole-genome sequencing in health care

European Journal of Human Genetics

Volumn 21, Issue 6, 2013, Pages 580-584

  Van El, Carla G ^a   Cornel, Martina C ^a,b,c   Borry, Pascal ^d   Hastings, Ros J ^e   Fellmann, Florence ^f   Hodgson, Shirley V ^g   Howard, Heidi C ^h,i   Cambon Thomsen, Anne ^h,i   Knoppers, Bartha M ^j   Meijers Heijboer, Hanne ^a   Scheffer, Hans ^k   Tranebjaerg, Lisbeth ^l,m,n   Dondorp, Wybo ^o,p   De Wert, Guido M W R ^c,o,p  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Center for Medical Systems Biology   (Netherlands)

^c CSG Centre for Society and the Life Sciences   (Netherlands)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^f LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^h INSERM   (France)

ⁱ UNIVERSITÉ DE TOULOUSE   (France)

^j MCGILL UNIVERSITY   (Canada)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l BISPEBJERG HOSPITAL   (Denmark)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

ⁿ UNIVERSITY OF COPENHAGEN   (Denmark)

^o MAASTRICHT UNIVERSITY   (Netherlands)

^p MAASTRICHT UNIVERSITY   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EUROPEAN; FAMILY RELATION; GENE SEQUENCE; GENETIC SCREENING; GENOME; HEALTH CARE; HUMAN; HUMAN GENETICS; MASS SCREENING; MEDICAL RESEARCH; PRIORITY JOURNAL; PRIVACY; CONFIDENTIALITY; DNA SEQUENCE; EUROPE; EXOME; FAMILY; GENETICS; HEALTH CARE DELIVERY; HEALTH CARE PLANNING; HUMAN GENOME; MEDICAL GENETICS; MEDICAL SOCIETY; METHODOLOGY;

CONFIDENTIALITY; DELIVERY OF HEALTH CARE; EUROPE; EXOME; FAMILY; GENETIC TESTING; GENETICS, MEDICAL; GENOME, HUMAN; HEALTH PLANNING GUIDELINES; HUMANS; MASS SCREENING; SEQUENCE ANALYSIS, DNA; SOCIETIES, MEDICAL;

EID: 84881420673     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.46     Document Type: Article

References (43)

1. Service RF. The race for the $1000 genome. Science. 2006; 311: 1544-1546.
2. Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP). Available at. www.genome.gov/sequencingcosts. (accessed 10 2012
3. Hastings R, Wert Gde, Fowler B, et al. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet. 2012; 20: 911-916.
4. Dondorp W, de Wert G. Health Council of the Netherlands. The 'thousand-dollar genome': an ethical exploration. Monitoring Report Ethics and Health, 2010/2. The Hague: Centre for Ethics and Health, 2010. Publication number Health Council of the Netherlands: 2010/15E.
5. Sikkema-Raddatz B, Sijmons RH (eds): Special issue: Focus on CNV detection with diagnostic arrays. Hum Mut. 2012; 33: 905-1019.
6. The 1000 Genomes Consortium. A map of human genome variation from populationscale sequencing. Nature. 2010; 467: 1061-1073 http://www.1000genomes.org/.sites/1000genomes.org/files/docs/nature09534.pdf
7. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010; 42: 30-35.
8. Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008; 452: 872-876.
9. Lunshof JE, Bobe J, Aach J, et al. Personal genomes in progress: from the Human Genome Project to the Personal Genome Project. Dialogues Clin Neurosci. 2010; 12: 47-60.
10. Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet. 2010; 375: 1525-1535.
11. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010; 362: 1181-1191.
12. Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010; 328: 636-639.
13. Schrijver I, Galli SJ. Between hype and hope: whole-genome sequencing in clinical medicine. Personal Med. 2012; 9: 243-246.
14. Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012; 366: 883-892.
15. Vissers LELM, Ligt J de, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet. 2010; 42: 1109-1112.
16. Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012; 4: 154ra135.
17. Heger M. Dutch study aims to demonstrate cost-effectiveness of reimbursing for exome sequencing Dx. http://www.genomeweb.com/sequencing/dutch-study-Aimsdemonstrate-cost-effectiveness-reimbursing-exome-sequencing-dx.
18. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012; 13: 565-575.
19. Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med. 2011; 13: 499-504.
20. Bell J, Bodmer D, Sistermans E, Ramsden SC. Practice guidelines for the interpretation and reporting of unclassified variants (UVs) in clinical molecular genetics. Clinical Molecular Genetics Society. 2007; http://www.cmgs.org/BPGs/pdfs%20current% 20bpgs/UV% 20GUIDE
21. deLeeuw N, Dijkhuizen T, Hehir-Kwa JY, et al. Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat. 2012; 33: 930-940.
22. Meulenkamp TM, Gevers SK, Bovenberg JA, Koppelman GH, van Hylckama Vlieg A, Smets EM. Communication of biobanks' research results: what do (potential) participants want?. Am J Med Genet A. 2010; 152A: 2482-2492.
23. Wright C, Burton H, Hall A, et al. Next steps in the sequence. The implications of whole genome sequencing for health in the UK. PHG Foundation 2011, ISBN 978-1-907198-08-3.
24. Bredenoord AL, Kroes HY, Cuppen E, Parker M, Van Delden JJM: Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet. 2011; 27: 41-47.
25. Schwarzbraun T, Obenauf AC, Langmann A, et al. Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. J Med Genet. 2009; 46: 341-344.
26. Dondorp W, Sikkema-Raddatz B, de Die-Smulders C, de Wert G. Arrays in postnatal and prenatal diagnosis: an exploration of the ethics of consent. Hum Mutat. 2012; 33: 916-922.
27. Solomon BD, Hadley DW, Pineda-Alvarez DE, et al. Incidental medical information in whole-exome sequencing. Pediatrics. 2012; 129: e 1605.
28. Thorogood A, Knoppers BM, Dondorp WJ, De Wert GMWR: Whole genome sequencing and the physician. Clin Genet. 2012; 81: 511-513.
29. Vermeesch JR, Brady PD, Sanlaville D, Kok K, Hastings RJ. Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. Hum Mutat. 2012; 33: 906-915.
30. Al-Shahi SR, Whiteley WN, Warlow C. Screening using whole-body magnetic resonance imaging scanning: who wants an incidentaloma?. J Med Screen. 2007; 14: 2-4.
31. Borry P, Henneman L, Lakeman P, Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly-To-consumers. Hum Reprod. 2011; 26: 972-977.
32. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011; 3: 65ra4.
33. Goldenberg AJ, Sharp RR. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA. 2012; 307: 461-462.
34. Collins FS. The language of life. DNA and the Revolution in Personalized Medicine. Harper: New York, 2010.
35. de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM. Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet. 2010; 18: 272-277.
36. Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012; 4: 137ra76.
37. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011; 342: c7401.
38. European Society of Human Genetics (ESHG). Genetic testing in asymptomatic minors:recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2009; 17: 720-721.
39. Hens K, Van El CG, Borry P, et al. Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet. 2013; 21: 2-7http://www.nature.com/.ejhg/journal/v21/n1/full/ejhg201299a.html
40. Borry P. Statement of the ESHG on direct-To-consumer genetic testing for healthrelated purposes European Society of Human Genetics. Eur J Hum Genet. 2010; 18: 1271-1273.
41. Van El CG, Cornel MC, on behalf of the ESHG Public and Professional Policy Committee: Genetic testing and common disorders in a public health framework. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2011; 19: 377-381.
42. Roberts NJ, Vogelstein JT, Parmigiani G, Kinzler KW, Vogelstein B, Velculescu VE. The predictive capacity of personal genome sequencing. Sci Transl Med. 2012; 4: 133ra58.
43. Health Council of the Netherlands. Screening: between hope and hype. The Hague: Health Council of the Netherlands, 2008; publication no. 2008/05E. http://www.gr.nl/.en/publications/screening-between-hope-And-hype-0.