Next generation sequencing and health technology assessment in autism spectrum disorder

Journal of the Canadian Academy of Child and Adolescent Psychiatry

Volumn 24, Issue 2, 2015, Pages 123-127

  Ungar, Wendy J ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Autism; Cost effectiveness; Diagnosis; Health technology assessment; Next generation sequencing

Indexed keywords

ARTICLE; AUTISM; BIOINFORMATICS; CLINICAL DECISION MAKING; COST; COST EFFECTIVENESS ANALYSIS; GENETIC SCREENING; HEALTH CARE QUALITY; HEALTH CARE UTILIZATION; HEALTH PROGRAM; HEALTH STATUS; HEALTH TECHNOLOGY ASSESSMENT; HUMAN; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; POLICY; REIMBURSEMENT; SEQUENCE ANALYSIS; TRANSLATIONAL RESEARCH;

EID: 84940652944     PISSN: 17198429     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Anagnostou, E., Zwaigenbaum, L., Szatmari, P., Fombonne, E., Fernandez, B. A., Woodbury-Smith, M., Scherer, S. W. (2014). Autism spectrum disorder: Advances in evidence-based practice. Canadian Medical Association Journal, 186(7), 509-519.
2. Bennette, C. S., Gallego, C. J., Burke, W., Jarvik, G. P., & Veenstra, D. L. (2014). The cost-effectiveness of returning incidental findings from next-generation sequencing. Genetics in Medicine. doi: 10.1038/gim.2014.146.
3. Canadian Agency for Drugs and Technologies in Health. Guidelines for the economic evaluation of health technologies: Canada. (2006). Ottawa: Canadian Agency for Drugs and Technologies in Health.
4. Carter, M. T., & Scherer, S. W. (2013). Autism spectrum disorder in the genetics clinic: A review. Clinical Genetics, 83(5), 399-407.
5. Caulfield, T., Evans, J., McGuire, A., McCabe, C., Bubela, T., Cook-Deegan, R., Wilson, B. (2013). Reflections on the cost of “low-cost” whole genome sequencing: Framing the health policy debate. PLoS Biology, 11(11), e1001699. doi: 10.1371/journal.pbio.1001699
6. Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Carter, M. T. (2014). Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations include10.1111/cge.12482s intellectual disability and autism spectrum disorder. Clinical Genetics. doi:
7. Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., Hahn, S. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A, 164A(10), 2592-2600. doi: 10.1002/ajmg.a.36698
8. Cukier, H. N., Dueker, N. D., Slifer, S. H., Lee, J. M., Whitehead, P. L., Lalanne, E., Pericak-Vance, M. A. (2014). Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. Molecular Autism, 5(1), 1. doi: 10.1186/2040-2392-5-1
9. Drummond, M. F., Sculpher, M. J., Torrance, G. W., O’Brien, B. J., & Stoddart, G. L. (2005). Methods for the Economic Evaluation of Health Care Programmes (3rd ed.). Oxford, UK: Oxford University Press.
10. Egger, G., Roetzer, K. M., Noor, A., Lionel, A. C., Mahmood, H., Schwarzbraun, T., Vincent, J. B. (2014). Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics, 15(2), 117-127. doi: 10.1007/s10048-014-0394-0
11. Georgiades, S., Szatmari, P., Boyle, M., Hanna, S., Duku, E., Zwaigenbaum, L., Pathways in ASD Study Team (2013). Investigating phenotypic heterogeneity in children with autism spectrum disorder: A factor mixture modeling approach. Journal of Child Psychology and Psychiatry, 54(2), 206-215. doi: 10.1111/j.1469-7610.2012.02588.x
12. Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565-574. doi: 10.1038/gim.2013.73
13. Griswold, A. J., Ma, D., Cukier, H. N., Nations, L. D., Schmidt, M. A., Chung, R. H., Pericak-Vance, M. A. (2012). Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics, 21(15), 3513-3523. doi: 10.1093/hmg/dds164
14. Jiang, Y.-h., Yuen, R. K. C., Jin, X., Wang, M., Chen, N., Wu, X., Scherer, S. W. (2013). Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. American Journal of Human Genetics, 93(2), 249-263.
15. Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. JAMA, 296(2), 212-215.
16. Lai, M.-C., Lombardo, M. V., & Baron-Cohen, S. (2014). Autism. Lancet, 383(9920), 896-910.
17. Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Bourgeron, T. (2014). Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A gradient of severity in cognitive impairments. PLoS Genetics, 10(9), e1004580. doi: 10.1371/journal.pgen.1004580
18. Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., Perlis, R. H., International Inflammatory Bowel Disease Genetics Consortium (IIBDGC) (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45(9), 984-994. doi: 10.1038/ng.2711
19. Merikangas, A. K., Segurado, R., Heron, E. A., Anney, R. J., Paterson, A. D., Cook, E. H., Gallagher, L. (2014). The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Molecular Psychiatry. doi: 10.1038/mp.2014.150
20. Ozonoff, S., Goodlin-Jones, B. L., & Solomon, M. (2005). Evidence-based assessment of autism spectrum disorders in children and adolescents. Journal of Clinical Child Adolescent Psychology, 34(3), 523-540.
21. Perry, A., Cummings, A., Geier, J. D., Freeman, N. L., Hughes, S., LaRose, L., Williams, J. (2008). Effectiveness of intensive behavioral intervention in a large, community-based program. Research in Autism Spectrum Disorders, 2, 621-642.
22. Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Scherer, S. W. (2014). Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics, 94(5), 677-694.
23. Reichow, B., Barton, E. E., Boyd, B. A., & Hume, K. (2012). Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD): A Systematic Review. Cochrane Database of Systematic Reviews, 10, CD009260.
24. Schaefer, G. B., & Mendelsohn, N. J. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399-407. doi: 10.1038/gim.2013.32
25. Scherer, S. W., & Dawson, G. (2011). Risk factors for autism: Translating genomic discoveries into diagnostics. Human Genetics, 130(1), 123-148. doi: 10.1007/s00439-011-1037-2
26. Vaags, A. K., Bowdin, S., Smith, M. L., Gilbert-Dussardier, B., Brocke- Holmefjord, K. S., Sinopoli, K., Minassian, B. A. (2014). Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology, 76(5), 758-764. doi: 10.1002/ana.24274
27. Virues-Ortega, J. (2010). Applied behavior analytic intervention for autism in early childhood: Meta-analysis, meta-regression and dose-response meta-analysis of multiple outcomes. Clinical Psychology Review, 30(4), 387-399.
28. Weitlauf, A. S., McPheeters, M. L., Peters, B., Sathe, N., Travis, R., Aiello, R., Warren, Z. (2014). Therapies for children with autism spectrum disorder: Behavioral interventions update. Comparative Effectiveness Review, 137. (Prepared by the Vanderbilt Evidence-based Practice Center under Contract No. 290-2012-00009-I.) AHRQ Publication No. 14-EHC036-EF. Rockville, MD: Agency for Healthcare Research and Quality. www.effectivehealthcare.ahrq.gov/reports/final.cfm.ii
29. Wetterstrand, K. A. (2014). DNA sequencing costs: Data from the NHGRI Genome Sequencing Program (GSP), from www.genome.gov/sequencingcosts
30. Wright, C., Burton, H., Hall, A., Moorthie, S., Pokorska-Bocci, A., Sagoo, G., Skinner, R. (2011). Next steps in the sequence. The implications of whole genome sequencing for health in the UK. Cambridge, UK: PHG Foundation.
31. Zur, R. M., Carter, M. T., Scherer, S. W., & Ungar, W. J. (2014). Frontiers in pediatric health technology assessment: Development of a discrete event simulation model for economic evaluation of screening, diagnosis and treatment strategies in autism spectrum disorder. Value in Health, 17(3), A191.