Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders

Amiet, C., Couchon, E., Carr, K., Carayol, J., Cohen, D. (2014) Are there cultural differences in parental interest in early diagnosis and genetic risk assessment for autism spectrum disorder? Frontiers in Pediatrics, 2(32). https://doi.org/10.3389/fped.2014.00032

Ayhan, A. B., Beyazıt, U., Topuz, Ş, Tunay, Ç. Z., Abbas, M. N., & Yılmaz, S. (2021). Autism spectrum disorder and genetic testing: Parents’ attitudes-data from Turkish sample. Journal of Autism and Developmental Disorders, 51(9), 3331–3340. https://doi.org/10.1007/s10803-020-04798-5

Article  PubMed  Google Scholar 

Barton, K. S., Tabor, H. K., Starks, H., Garrison, N. A., Laurino, M., & Burke, W. (2018). Pathways from autism spectrum disorder diagnosis to genetic testing. Genetics in Medicine, 20(7), 737–744. https://doi.org/10.1038/gim.2017.166

Article  PubMed  Google Scholar 

Brown, E. G., Watts, I., Beales, E. R., Maudhoo, A., Hayward, J., Sheridan, E., & Rafi, I. (2021). Videoconferencing to deliver genetics services: A systematic review of telegenetics in light of the COVID-19 pandemic. Genetics in Medicine, 23(8), 1438–1449. https://doi.org/10.1038/s41436-021-01149-2

Article  PubMed  PubMed Central  Google Scholar 

Chen, L.-S., Xu, L., Huang, T.-Y., & Dhar, S. U. (2013). Autism genetic testing: A qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. Genetics in Medicine, 15(4), 274–281. https://doi.org/10.1038/gim.2012.145

Article  PubMed  Google Scholar 

Codina-Solà, M., Pérez-Jurado, L. A., Cuscó, I., & Serra-Juhé, C. (2017). Provision of genetic services for autism and its impact on Spanish families. Journal of Autism and Developmental Disorders, 47(10), 2947–2956. https://doi.org/10.1007/s10803-017-3203-4

Article  PubMed  PubMed Central  Google Scholar 

Cohen, J., Hoon, A., & Wilms Floet, A. M. (2013). Providing family guidance in rapidly shifting sand: Informed consent for genetic testing. Developmental Medicine and Child Neurology, 55(8), 766–768. https://doi.org/10.1111/dmcn.12102

Article  PubMed  Google Scholar 

Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., Dueker, N., Nations, L., Pericak-Vance, M., & Hahn, S. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A Part A, 164A(10), 2592–2600. https://doi.org/10.1002/ajmg.a.36698

Article  Google Scholar 

Domínguez-Carral, J., López-Pisón, J., Macaya, A., Bueno Campaña, M., García-Pérez, M. A., & Natera-de Benito, D. (2017). Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices. European Journal of Medical Genetics, 60(2), 124–129. https://doi.org/10.1016/j.ejmg.2016.11.007

Article  PubMed  Google Scholar 

Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., Lewis, J., Torchia, B. S., Walker, C., Traylor, R. N., Moles, K., Miller, E., Lantz, J., Valentin, C., Minier, S. L., Leiser, K., Powell, B. R., Wilks, T. M., & Shaffer, L. G. (2012). Clinical utility of chromosomal microarray analysis. Pediatrics, 130(5), e1085–e1095. https://doi.org/10.1542/peds.2012-0568

Article  PubMed  Google Scholar 

Feliciano, P., Daniels, A. M., Green Snyder, L. A., Beaumont, A., Camba, A., Esler, A., Gulsrud, A. G., Mason, A., Gutierrez, A., Nicholson, A., Paolicelli, A. M., McKenzie, A. P., Rachubinski, A. L., Stephens, A. N., Simon, A. R., Stedman, A., Shocklee, A. D., Swanson, A., Finucane, B., … Chung, W. K. (2018). SPARK: A US cohort of 50,000 families to accelerate autism research. Neuron, 97(3), 488–493https://doi.org/10.1016/j.neuron.2018.01.015

Harrington, J. W., Emuren, L., Restaino, K., & Schrier Vergano, S. (2018). Parental perception and participation in genetic testing among children with autism spectrum disorders. Clinical Pediatrics, 57(14), 1642–1655. https://doi.org/10.1177/0009922818803398

Article  PubMed  Google Scholar 

Harris, H. K., Sideridis, G. D., Barbaresi, W. J., Harstad, E. (2020). Pathogenic yield of genetic testing in autism spectrum disorder. Pediatrics, 146(4). https://doi.org/10.1542/peds.2019-3211

Harris, P. A., Taylor, R., Minor, B. L., Elliott, V., Fernandez, M., O’Neal, L., McLeod, L., Delacqua, G., Delacqua, F., Kirby, J., & Duda, S. N. (2019). The REDCap consortium: Building an international community of software platform partners. Journal of Biomedical Informatics, 95, 103208. https://doi.org/10.1016/j.jbi.2019.103208

Article  PubMed  PubMed Central  Google Scholar 

Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009). Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support. Journal of Biomedical Informatics, 42(2), 377–381. https://doi.org/10.1016/j.jbi.2008.08.010

Article  PubMed  Google Scholar 

Helm, B. M., Langley, K., Spangler, B., & Vergano, S. (2014). Three clinical experiences with SNP array results consistent with parental incest: A narrative with lessons learned. Journal of Genetic Counseling, 23(4), 489–495. https://doi.org/10.1007/s10897-013-9669-0

Article  PubMed  Google Scholar 

Hendel, Y., Meiri, G., Flusser, H., Michaelovski, A., Dinstein, I., & Menashe, I. (2021). Factors affecting family compliance with genetic testing of children diagnosed with autism spectrum disorder. Journal of Autism and Developmental Disorders, 51(4), 1201–1209. https://doi.org/10.1007/s10803-020-04589-y

Article  PubMed  Google Scholar 

Hyman, S. L., Levy, S. E., Myers, S. M. (2020). Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics, 145(1). https://doi.org/10.1542/peds.2019-3447

Ingles, J., Lind, J. M., Phongsavan, P., & Semsarian, C. (2008). Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genetics in Medicine, 10(2), 117–120. https://doi.org/10.1097/GIM.0b013e3181612cc7

Article  PubMed  Google Scholar 

Kiely, B., Vettam, S., & Adesman, A. (2016). Utilization of genetic testing among children with developmental disabilities in the United States. The Application of Clinical Genetics, 9, 93–100. https://doi.org/10.2147/TACG.S103975

Article  PubMed  PubMed Central  Google Scholar 

Kishan, A. U., Gomez, C. L., Dawson, N. A., Dvorak, R., Foster, N. M., Hoyt, A., Hurvitz, S. A., Kusske, A., Silver, E. L., Tseng, C., & McCloskey, S. A. (2016). Increasing appropriate BRCA1/2 mutation testing: The role of family history documentation and genetic counseling in a multidisciplinary clinic. Annals of Surgical Oncology, 23(5), 634–641. https://doi.org/10.1245/s10434-016-5545-0

Article  PubMed  Google Scholar 

Knapke, S., Nagarajan, R., Correll, J., Kent, D., & Burns, K. (2012). Hereditary cancer risk assessment in a pediatric oncology follow-up clinic. Pediatric Blood & Cancer, 58(1), 85–89. https://doi.org/10.1002/pbc.23283

Article  Google Scholar 

Kubendran, S., Sivamurthy, S., & Schaefer, G. B. (2017). A novel approach in pediatric telegenetic services: Geneticist, pediatrician and genetic counselor team. Genetics in Medicine, 19(11), 1260–1267. https://doi.org/10.1038/gim.2017.45

Article  PubMed  PubMed Central  Google Scholar 

Maenner, M. J., Shaw, K. A., Bakian, A. V., Bilder, D. A., Durkin, M. S., Esler, A., Furnier, S. M., Hallas, L., Hall-Lande, J., Hudson, A., Hughes, M. M., Patrick, M., Pierce, K., Poynter, J. N., Salinas, A., Shenouda, J., Vehorn, A., Warren, Z., Constantino, J. N., … Cogswell, M. E. (2021). Prevalence and characteristics of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2018. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C. : 2002), 70(11), 1–16. https://doi.org/10.15585/mmwr.ss7011a1

Marin, J. R., Rodean, J., Mannix, R. C., Hall, M., Alpern, E. R., Aronson, P. L., Chaudhari, P. P., Cohen, E., Freedman, S. B., Morse, R. B., Peltz, A., Samuels-Kalow, M., Shah, S. S., Simon, H. K., & Neuman, M. I. (2021). Association of clinical guidelines and decision support with computed tomography use in pediatric mild traumatic brain injury. Journal of Pediatrics, 235, 178-183.e1. https://doi.org/10.1016/j.jpeds.2021.04.026

Article  PubMed  Google Scholar 

Mikat-Stevens, N. A., Larson, I. A., & Tarini, B. A. (2015). Primary-care providers’ perceived barriers to integration of genetics services: A systematic review of the literature. Genetics in Medicine, 17(3), 169–176. https://doi.org/10.1038/gim.2014.101

Article  PubMed  Google Scholar 

Moreno-De-Luca, D., Kavanaugh, B. C., Best, C. R., Sheinkopf, S. J., Phornphutkul, C., & Morrow, E. M. (2020). Clinical genetic testing in autism spectrum disorder in a large community-based population sample. JAMA Psychiatry, 77(9), 979–981. https://doi.org/10.1001/jamapsychiatry.2020.0950

Article  PubMed  PubMed Central  Google Scholar 

Narcisa, V., Discenza, M., Vaccari, E., Rosen-Sheidley, B., Hardan, A. Y., & Couchon, E. (2013). Parental interest in a genetic risk assessment test for autism spectrum disorders. Clinical Pediatrics, 52(2), 139–146. https://doi.org/10.1177/0009922812466583

Article  PubMed  Google Scholar 

Nguyen, E. D., & Menon, S. (2021). For whom the bell tolls: Acute kidney injury and electronic alerts for the pediatric nephrologist. Frontiers in Pediatrics, 9, 628096. https://doi.org/10.3389/fped.2021.628096

Article  PubMed  PubMed Central  Google Scholar 

Riggs, E. R., Wain, K. E., Riethmaier, D., Smith-Packard, B., Faucett, W. A., Hoppman, N., Thorland, E. C., Patel, V. C., & Miller, D. T. (2014). Chromosomal microarray impacts clinical management. Clinical Genetics, 85(2), 147–153. https://doi.org/10.1111/cge.12107

Article  PubMed  Google Scholar 

Rutz, A., Dent, K. M., Botto, L. D., Young, P. C., & Carbone, P. S. (2019). Brief report: Pediatrician perspectives regarding genetic evaluations of children with autism spectrum disorder. Journal of Autism and Developmental Disorders, 49(2), 794–808. https://doi.org/10.1007/s10803-018-3738-z

Article  PubMed  Google Scholar 

Satya-Murti, S., Cohen, B. H., Michelson, D. (2013). Model coverage policy - chromosomal microarray analysis for intellectual disabilities . American Academy of Neurology, pp. 1–8

Schaefer, G. B., Mendelsohn, N. J., Practice, P., & Committee, G. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 21(10), 32. https://doi.org/10.1038/gim.2013.32

Article  Google Scholar 

Soda, T., Pereira, S., Small, B. J., Torgerson, L. N., Muñoz, K. A., Austin, J., Storch, E. A., & Lázaro-Muñoz, G. (2021). Child and adolescent psychiatrists’ perceptions of utility and self-rated knowledge of genetic testing predict usage for autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 60(6), 657–660. https://doi.org/10.1016/j.jaac.2021.01.022

Article  PubMed  PubMed Central  Google Scholar 

Stoll, K., Kubendran, S., & Cohen, S. A. (2018). The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine. American Journal of Medical Genetics Part c, Seminars in Medical Genetics, 178(1), 24–37. https://doi.org/10.1002/AJMG.C.31602

Article  PubMed  Google Scholar 

Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., & State, M. (2014). Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 53(2), 237–257. https://doi.org/10.1016/j.jaac.2013.10.013

Article  PubMed  Google Scholar 

Wagner, K. E., McCormick, J. B., Barns, S., Carney, M., Middleton, F. A., & Hicks, S. D. (2020). Parent perspectives towards genetic and epigenetic testing for autism spectrum disorder. Journal of Autism and Developmental Disorders, 50(9), 3114–3125. https://doi.org/10.1007/s10803-019-03990-6

Article  PubMed  Google Scholar 

Wofford, S., Noblin, S., Davis, J. M., Farach, L. S., Hashmi, S. S., Mancias, P., & Wagner, V. F. (2019). Genetic testing practices of genetic counselors, geneticists, and pediatric neurologists With regard to childhood-onset neurogenetic conditions. Journal of Child Neurology, 34(4), 177–183. https://doi.org/10.1177/0883073818821036

Article  PubMed  Google Scholar 

Xu, L., Mitchell, L. C., Richman, A. R., & Clawson, K. (2016). What do parents think about chromosomal microarray testing? A qualitative report from parents of children with autism spectrum disorders. Autism Research and Treatment, 2016, 1–9. https://doi.org/10.1155/2016/6852539

Article  Google Scholar 

Zhao, S., Chen, W. J., Dhar, S. U., Eble, T. N., Kwok, O. M., & Chen, L. S. (2019a). Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the United States. Autism Research, 12(8), 1162–1170. https://doi.org/10.1002/aur.2152

Article  PubMed  Google Scholar 

Zhao, S., Chen, W. J., Dhar, S. U., Eble, T. N., Kwok, O. M., & Chen, L. S. (2019b). Genetic testing experiences among parents of children with autism spectrum disorder in the United States. Journal of Autism and Developmental Disorders, 49(12), 4821–4833. https://doi.org/10.1007/s10803-019-04200-z

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