“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD
- 640 Downloads
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents’ beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child’s CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents’ expectations for the future tended to differ depending on results; those who received genetic confirmation for their children’s ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.
KeywordsAutism spectrum disorders Chromosomal microarray analysis Genomic testing Parental expectations Causation beliefs Genetic determinism
The authors wish to thank Rena Vanzo of Lineagen Inc. for assistance with recruitment, and all the parents for their participation in the study. This research was supported by a grant from the National Human Genome Research Institute of the National Institutes of Health.
MR conceived of the study, participated in the design and coordination, and drafted the manuscript; EB participated in the coordination of the study and assisted with qualitative data analysis and write-up; BB participated in the design of the study and write-up; EG participated in interviewing, qualitative data analysis and write-up; PS participated in research design and interpretation of the data; NS participated in design of the research, provided access to participants, and participated in scientific conceptualization for study, SM participated in data interpretation, scientific conceptualization and access to participants. All authors read and approved the final manuscript.
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
- Bazeley, P. (2007). Qualitative analysis with Nvivo. Thousand Oaks, CA: Sage Publications Ltd.Google Scholar
- Bernard, H. R. (2013). Social research methods: Qualitative and quantitative approaches. Thousand Oaks, CA: Sage Publications.Google Scholar
- Boyatzis, R. E. (1998). Transforming qualitative information: Thematic analysis and code development. Thousand Oaks, CA: Sage Publishers.Google Scholar
- Campbell, D. B. (2010). Advances and challenges in the genetics of autism. Focus (San Francisco, Calif.), 8, 339–349.Google Scholar
- Dachel, A. (2013) Dr. Tom insel on autism: “If there is a true increase”...If? : Age of autism. Daily web newspaper of the autism epidemic. http://www.ageofautism.com/2013/03/dr-tom-insel-on-autism-if-there-is-a-true-increase-if.html.
- Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., et al. (2010). Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics, 47, 195–203.CrossRefPubMedGoogle Scholar
- The Interagency Autism Coordinating, Committee (2010). The 2010 strategic plan for autism spectrum disorder research. Washington, DC: Department of Health and Human Services.Google Scholar
- Levy, S. E., Giarelli, E., Lee, L. C., Schieve, L. A., Kirby, R. S., Cunniff, C., et al. (2010). Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. Journal of developmental and behavioral pediatrics : JDBP, 31, 267–275.CrossRefPubMedGoogle Scholar
- Lipinski, S. E., Lipinski, M. J., Biesecker, L. G., & Biesecker, B. B. (2006). Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 142 C, 232–240.CrossRefGoogle Scholar
- Makela, N. L., Birch, P. H., Friedman, J. M., & Marra, C. A. (2009). Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child’s ID. American Journal of Medical Genetics. Part A, 149 A, 2393–2402.CrossRefGoogle Scholar
- Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook. Thousand Oaks, CA: Sage publications.Google Scholar
- Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010a). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86, 749–764.CrossRefPubMedPubMedCentralGoogle Scholar
- MMWR, C. (2014). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. In C.f.D.C.a.P. (CDC) (Ed.), Morbidity and Mortality Weekly Report (MMWR) pp. 1–21.Google Scholar
- Nelkin, D., & Lindee, M. S. (1995). The DNA mystique : The gene as a cultural icon. New York: Freeman.Google Scholar
- Parrott, R. L., Smith, R. A., Hong, S. J., & Worthington, A. (2015). Congruence-incongruence patterns in alpha-1 antitrypsin deficiency couples’ genetic determinist beliefs and perceived control over genes: Implications for clinical and public health genomic communication. Journal of genetic counseling, 24, 532–540.CrossRefPubMedGoogle Scholar
- Reiff, M., Giarelli, E., Bernhardt, B. A., Easley, E., Spinner, N. B., Sankar, P. L., et al. (2015). Parents’ perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 45, 3262–3275.CrossRefPubMedPubMedCentralGoogle Scholar
- Reiff, M., & Mulchandani, S. (2015). Integrating genetics into healthcare: Implications of genomic testing for individuals with autism spectrum disorders. In E. Giarelli & K. Fisher (Eds.), Integrated healthcare for people with autism spectrum disorders: Interdisciplinary planning and delivery of care pp. 193–215). Springfield, IL: Charles C. Thomas, Publishers, Ltd.Google Scholar
- Shattuck, P. T., Durkin, M., Maenner, M., Newschaffer, C., Mandell, D. S., Wiggins, L., et al. (2009). Timing of identification among children with an autism spectrum disorder: Findings from a population-based surveillance study. Journal of the American Academy of Child and Adolescent Psychiatry, 48, 474–483.CrossRefPubMedPubMedCentralGoogle Scholar
- Stein, M. B., Yang, B. Z., Chavira, D. A., Hitchcock, C. A., Sung, S. C., Shipon-Blum, E., et al. (2011). A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. Biological Psychiatry, 69, 825–831.CrossRefPubMedGoogle Scholar
- Williams-Jones, B. (1999). Concepts of personhood and the commodification of the body. Health Law Review, 7, 11–13.Google Scholar