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References
Service RF : The race for the $1000 genome. Science 2006; 311: 1544–1546.
Wetterstrand KA DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP). Available at www.genome.gov/sequencingcosts . (accessed 10 2012.
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.
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.
Sikkema-Raddatz B, Sijmons RH (eds): Special issue: Focus on CNV detection with diagnostic arrays. Hum Mut 2012; 33: 905–1019.
The 1000 Genomes Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061–1073http://www.1000genomes.org/sites/1000genomes.org/ files/docs/nature09534.pdf.
Ng SB, Buckingham KJ, Lee C et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42: 30–35.
Wheeler DA, Srinivasan M, Egholm M et al: The complete genome of an individual by massively parallel DNA sequencing. Nature 2008; 452: 872–876.
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.
Ashley EA, Butte AJ, Wheeler MT et al: Clinical assessment incorporating a personal genome. Lancet 2010; 375: 1525–1535.
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.
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.
Schrijver I, Galli SJ : Between hype and hope: whole-genome sequencing in clinical medicine. Personal Med 2012; 9: 243–246.
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.
Vissers LELM, Ligt J de, Gilissen C et al: A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109–1112.
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.
Heger M Dutch study aims to demonstrate cost-effectiveness of reimbursing for exome sequencing Dx http://www.genomeweb.com/sequencing/dutch-study-aims-demonstrate-cost-effectiveness-reimbursing-exome-sequencing-dx.
Veltman JA, Brunner HG : De novo mutations in human genetic disease. Nat Rev Genet 2012; 13: 565–575.
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.
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.
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.
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.
Wright C, Burton H, Hall A et alNext steps in the sequence. The implications of whole genome sequencing for health in the UK. PHG Foundation 2011, ISBN 978-1-907198-08-3.
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.
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.
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.
Solomon BD, Hadley DW, Pineda-Alvarez DE et al: Incidental medical information in whole-exome sequencing. Pediatrics 2012; 129: e 1605.
Thorogood A, Knoppers BM, Dondorp WJ, De Wert GMWR : Whole genome sequencing and the physician. Clin Genet 2012; 81: 511–513.
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.
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.
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.
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.
Goldenberg AJ, Sharp RR : The ethical hazards and programmatic challenges of genomic newborn screening. JAMA 2012; 307: 461–462.
Collins FS : The language of life. DNA and the Revolution in Personalized Medicine. Harper: New York, 2010.
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.
Kitzman JO, Snyder MW, Ventura M et al: Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012; 4: 137ra76.
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.
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.
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.
Borry P : Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes European Society of Human Genetics. Eur J Hum Genet 2010; 18: 1271–1273.
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.
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.
Health Council of the Netherlands. Screening: between hope and hype. The Hague: Health Council of the Netherlands, 2008; publication no. 2008/05Ehttp://www.gr.nl/en/publications/screening-between-hope-and-hype-0.
Acknowledgements
We thank all ESHG members and experts who have contributed to earlier drafts of these recommendations: Conny van Ravenswaaij-Arts, Jacqui Beckmann, Raoul Hennekam, Lidewij Henneman, Tessa van der Valk on behalf of the Dutch Genetic Alliance VSOP, Quinten Waisfisz. We further thank all participants of the PPPC meeting in Amsterdam in January 2011 that was organized in collaboration with the TECHGENE project, including Frank Baas, Anthony Bailey, Niels Nijsingh and Terry Vrijenhoek. This work has been supported by the TECHGENE project, grant agreement number 223143, funded by the EC Seventh Framework Programme theme FP7 -HEALTH-2007-B. In 2011 and 2012, members or observers of PPPC were Nurten Akarsu, Pascal Borry, Anne Cambon-Thomsen, Florence Fellmann, Francesca Forzano, Shirley Hodgson, Heidi Howard, Hülya Kayserili, Christine Patch, Borut Peterlin, Dragica Radojkowic, Wolf Rogowski, Jorge Sequeiros, Maria Soller, Aad Tibben and Lisbeth Tranebjaerg; Martina Cornel was Chair of PPPC.
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van El, C., Cornel, M., Borry, P. et al. Whole-genome sequencing in health care. Eur J Hum Genet 21, 580–584 (2013). https://doi.org/10.1038/ejhg.2013.46
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