Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group

Abstract

Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD.

This is a preview of subscription content, log in to check access.

Fig. 1

References

  1. American Psychiatric Association (2013) DSM-5 Diagnostic classification. American Psychiatric Association, In diagnostic and statistical manual of mental disorders

    Google Scholar 

  2. Bellando J, Fussell JJ, Lopez M (2016) Autism Speaks toolkits: resources for busy physicians. Clin Pediatr 55(2):171–175

    Article  Google Scholar 

  3. Chen LS, Xu L, Huang TY, Dhar SU (2013) Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. Genet Med 15(4):274–281

    Article  Google Scholar 

  4. Clifford T, Minnes P (2013) Who participates in support groups for parents of children with autism spectrum disorders? the role of beliefs and coping style. J Autism Dev Disord 43(1):179–187

    Article  Google Scholar 

  5. Cuccaro ML, Czape K, Alessandri M, Lee J, Deppen AR, Bendik E, Dueker N, Nations L, Pericak-Vance M, Hahn S (2014) Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). Am J Med Genet A 164(10):2592–2600

    Article  Google Scholar 

  6. Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR (2000) Practice parameter: Screening and diagnosis of autism. Report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55(4):468–479

    CAS  Article  Google Scholar 

  7. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG (2009) Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42(2):377–381

    Article  Google Scholar 

  8. Hens K, Peeters H, Dierickx K (2016) Genetic testing and counseling in the case of an autism diagnosis: a caregivers perspective. Eur J Med Genet 59(9):452–458

    Article  Google Scholar 

  9. Ho KS, Wassman ER, Baxter AL, Hensel CH, Martin MM, Prasad A, Twede H, Vanzo R, Butler M (2016) Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders. Int J Mol Sci 17(12):2070

    Article  Google Scholar 

  10. Huguet G, Ey E, Bourgeron T (2013) The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet 14(1):191–213

    CAS  Article  Google Scholar 

  11. Hyman SL, Levy SE, Myers SM (2020) Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics 145(1)

  12. Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH (2019) Chromosomal microarray analysis as a first-tier clinical diagnostic test in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: a prospective multicenter study in Korea. Ann Lab Med 39(3):299–310

    Article  Google Scholar 

  13. Johannessen J, Nærland T, Hope S, Torske T, Høyland A, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen O (2017) Parents’ attitudes toward clinical genetic testing for autism spectrum disorder—data from a Norwegian sample. Int J Mol Sci 18(6):1078

    Article  Google Scholar 

  14. Kiely B, Vettam S, Adesman A (2016) Utilization of genetic testing among children with developmental disabilities in the United States. Appl Clin Genet 9:93–100

    Article  Google Scholar 

  15. Li M, Amuta A, Xu L, Dhar SU, Talwar D, Jung E, Chen LS (2016) Autism genetic testing information needs among parents of affected children: a qualitative study. Patient Educ Couns 99(6):1011–1016

    Article  Google Scholar 

  16. Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M et al (2020) Prevalence of autism spectrum disorder among children aged 8 years — autism and developmental disabilities monitoring network, 11 Sites, United States, 2016. MMWR Surveill Summ 69(SS-4):1–12

    Article  Google Scholar 

  17. McGrew SG, Peters BR, Crittendon JA, Veenstra-VanderWeele J (2012) Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: Which guidelines to implement? J Autism Dev Disord 42(8):1582–1591

    Article  Google Scholar 

  18. Mohd Roffeei SH, Abdullah N, Basar SKR (2015) Seeking social support on Facebook for children with autism spectrum disorders (ASDs). Int J Med Inform 84(5):375–385

    Article  Google Scholar 

  19. Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M (2019) Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Mol Autism 10:33

    Article  Google Scholar 

  20. Murray DS, Fedele A, Shui A, Coury DL (2016) The Autism Speaks autism treatment network registry data: opportunities for investigators. Pediatrics 137:S72–S78

    Article  Google Scholar 

  21. Ross LF, Saal HM, David KL, Anderson RR (2013) Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 15(3):234–245

    Article  Google Scholar 

  22. Rutz A, Dent KM, Botto LD, Young PC, Carbone PS (2019) Brief report: pediatrician perspectives regarding genetic evaluations of children with autism spectrum disorder. J Autism Dev Disord 49(2):794–808

    Article  Google Scholar 

  23. Saxena A, Chahrour M (2017) Autism spectrum disorder. In: David SP (ed) Genomic and Precision Medicine. Ch 16, 3rd edn. Academic Press, pp 301–316

  24. Schaefer GB, Mendelsohn NJ (2013) Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 15(5):399–407

    CAS  Article  Google Scholar 

  25. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT, on behalf of the Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration (2010) Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 125(4):e727–e735

    Article  Google Scholar 

  26. Singh J, Hallmayer J, Illes J (2007) Interacting and paradoxical forces in neuroscience and society. Nature reviews. Neuroscience 8(2):153–160

    PubMed  Google Scholar 

  27. Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC et al (2015) Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA 314(9):595–903

    Article  Google Scholar 

  28. Vande Wydeven K, Kwan A, Hardan AY, Bernstein JA (2012) Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation. J Genet Couns 21(6):803–813

    Article  Google Scholar 

  29. Volkmar F, Siegel M, Woodbury-Smith M, King B, Mccracken J, State M (2014) AACAP OFFICIAL ACTION Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 53(2):237–257

    Article  Google Scholar 

  30. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS (2019) Genetic testing experiences among parents of children with autism spectrum disorder in the United States. J Autism Dev Disord 49(12):4821–4833

    Article  Google Scholar 

Download references

Acknowledgments

The authors wish to acknowledge Amy Helgeson, Field Development–Executive Director of Autism Speaks Illinois and Wisconsin, who facilitated the dissemination of the survey and the caregivers of the Autism Speaks support group who participated in our survey.

Author information

Affiliations

Authors

Contributions

Aaron Zebolsky contributed to the conceptualization, investigation, and initial draft of this manuscript. Data analysis was carried out by Duncan Vos. Neelkamal Soares contributed to the methodology, resources, and supervision of the project. All authors were involved in editing the manuscript and approved of the final draft.

Corresponding author

Correspondence to Aaron Zebolsky.

Ethics declarations

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Zebolsky, A., Vos, D. & Soares, N. Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group. J Community Genet (2020). https://doi.org/10.1007/s12687-020-00469-1

Download citation

Keywords

  • Autism spectrum disorder
  • Support group
  • Awareness
  • Community
  • Genetic testing