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“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD

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Abstract

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.

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References

  • American Psychiatric Association (2013). Diagnostic and statistical manual of mental disorders, Fifth Edition (DSM-5). Washington, DC: American Psychiatric Association.

    Book  Google Scholar 

  • Barbaresi, W. J., Katusic, S. K., & Voigt, R. G. (2006). Autism: A review of the state of the science for pediatric primary health care clinicians. Archives of Pediatrics and Adolescent Medicine, 160, 1167–1175.

    Article  PubMed  Google Scholar 

  • 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 

  • Bolte, S. (2014). Is autism curable? Developmental Medicine and Child Neurology, 56, 927–931.

    Article  PubMed  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 

  • Christenhusz, G. M., Devriendt, K., Peeters, H., Van Esch, H., & Dierickx, K. (2014). The communication of secondary variants: Interviews with parents whose children have undergone array-CGH testing. Clinical Genetics, 86, 207–216

    Article  Google Scholar 

  • Connolly, J. J., & Hakonarson, H. (2014). Etiology of autism spectrum disorder: A genomics perspective. Current psychiatry reports, 16, 501.

    Article  PubMed  Google Scholar 

  • Cooper, R. S., & Psaty, B. M. (2003). Genomics and medicine: Distraction, incremental progress, or the dawn of a new age? Annals of Internal Medicine, 138, 576–580.

    Article  PubMed  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.

  • Dar-Nimrod, I., & Heine, S. J. (2011). Genetic essentialism: On the deceptive determinism of DNA. Psychological Bulletin, 137, 800.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Finkler, K. (2000). Experiencing the new genetics: Family and kinship on the medical frontier. Philadelphia: University of Pennsylvania Press.

    Book  Google Scholar 

  • Fountain, C., King, M. D., & Bearman, P. S. (2011). Age of diagnosis for autism: Individual and community factors across 10 birth cohorts. Journal of Epidemiology and Community Health, 65, 503–510.

    Article  PubMed  Google Scholar 

  • Happe, K. E. (2013). The material gene: Gender, race, and heredity after the human genome project: New York: NYU Press.

    Book  Google Scholar 

  • Haslam, N. (2011). Genetic essentialism, neuroessentialism, and stigma: Commentary on Dar-Nimrod and Heine (2011). Psychol Bull,137 , 819–824

    Article  Google Scholar 

  • Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J., & Batista, D. A. (2014). The impact of chromosomal microarray on clinical management: a retrospective analysis. Genetics in Medicine, 16, 657–664.

    Article  PubMed  Google 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 

  • Lebowitz, M. S., & Ahn, W. K. (2012). Combining biomedical accounts of mental disorders with treatability information to reduce mental illness stigma. Psychiatric Services, 63, 496–499.

    Article  PubMed  PubMed Central  Google Scholar 

  • Lebowitz, M. S., Ahn, W. K., & Nolen-Hoeksema, S. (2013a). Fixable or fate? Perceptions of the biology of depression. Journal of Consulting and Clinical Psychology, 81, 518–527.

    Article  PubMed  PubMed Central  Google Scholar 

  • Lebowitz, M. S., Rosenthal, J. E., & Ahn, W. K. (2013b). Effects of biological versus psychosocial explanations on stigmatization of children with ADHD. Journal of attention disorders. doi:10.1177/1087054712469255.

    PubMed  Google Scholar 

  • Lenhard, W., Breitenbach, E., Ebert, H., Schindelhauer-Deutscher, H.J., & Henn, W (2005). Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. American Journal of Medical Genetics. Part A, 133 A, 170–175.

    Article  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.

    Article  PubMed  Google Scholar 

  • Lewis, C., Skirton, H., & Jones, R. (2010). Living without a diagnosis: The parental experience. Genetic testing and molecular biomarkers, 14, 807–815.

    Article  PubMed  Google Scholar 

  • Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics, 46, 1–8.

    Article  PubMed  Google 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.

    Article  Google Scholar 

  • Lock, M., Freeman, J., Sharples, R., & Lloyd, S. (2006). When it runs in the family: Putting susceptibility genes in perspective. Public Understanding of Science, 15, 277–300.

    Article  Google 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.

    Article  Google Scholar 

  • Mandell, D.S., Novak, M.M., & Zubritsky, C.D. (2005). Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics, 116, 1480–1486.

    Article  PubMed  PubMed Central  Google Scholar 

  • Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine, 12, 742–745.

    Article  PubMed  PubMed Central  Google Scholar 

  • Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook. Thousand Oaks, CA: Sage publications.

    Google Scholar 

  • Miller, D. T. (2010). Genetic testing for autism: Recent advances and clinical implications. Expert Review of Molecular Diagnostics, 10, 837–840.

    Article  PubMed  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.

    Article  PubMed  PubMed Central  Google Scholar 

  • Miller, F. A., Ahern, C., Ogilvie, J., Giacomini, M., & Schwartz, L. (2005). Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification. Social Science and Medicine, 61, 2536–2545.

    Article  PubMed  Google Scholar 

  • Miller, F. A., Hayeems, R. Z., & Bytautas, J. P. (2010b). What is a meaningful result? Disclosing the results of genomic research in autism to research participants. European Journal of Human Genetics, 18, 867–871.

    Article  PubMed  PubMed Central  Google 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.

  • Narcisa, V., Discenza, M., Vaccari, E., Rosen-Sheidley, B., Hardan, A. Y., & Couchon, E. (2012). Parental interest in a genetic risk assessment test for autism spectrum disorders. Clinical Pediatrics, 52, 139–146.

    Article  PubMed  Google Scholar 

  • Nelkin, D., & Lindee, M. S. (1995). The DNA mystique : The gene as a cultural icon. New York: Freeman.

    Google Scholar 

  • Parrott, R., Kahl, M. L., Ndiaye, K., & Traeder, T. (2012). Health communication, genetic determinism, and perceived control: The roles of beliefs about susceptibility and severity versus disease essentialism. Journal of health communication, 17, 762–778.

    Article  PubMed  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.

    Article  PubMed  Google Scholar 

  • Pellicano, E., & Stears, M. (2011). Bridging autism, science and society: Moving toward an ethically informed approach to autism research. Autism Research, 4, 271–282.

    Article  PubMed  Google Scholar 

  • Persico, A. M., & Bourgeron, T. (2006). Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends in Neurosciences, 29, 349–358.

    Article  PubMed  Google Scholar 

  • Phelan, J. C. (2005). Geneticization of deviant behavior and consequences for stigma: The case of mental illness. Journal of Health and Social Behavior, 46, 307–322.

    Article  PubMed  Google Scholar 

  • Phelan, J. C., Cruz-Rojas, R., & Reiff, M. (2002). Genes and stigma: The connection between perceived genetic etiology and attitudes and beliefs about mental Illness. Psychiatric Rehabilitation Skills, 6, 159–185.

    Article  Google Scholar 

  • Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., & Rews, T. D., et al. (2006). Global variation in copy number in the human genome. Nature, 444, 444–454.

    Article  PubMed  PubMed Central  Google Scholar 

  • Regier, D. A., Friedman, J. M., Makela, N. L., Ryan, M., & Marra, C. A. (2009). Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: Willingness to pay from families of affected children. Clinical Genetics, 75, 514–521.

    Article  PubMed  Google Scholar 

  • Reiff, M., Bernhardt, B. A., Mulchandani, S., Soucier, D., Cornell, D., Pyeritz, R. E., et al. (2012). “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine, 14, 250–258.

    Article  PubMed  PubMed Central  Google 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.

    Article  PubMed  PubMed Central  Google 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 

  • Rosenthal, E. T., Biesecker, L. G., & Biesecker, B. B. (2001). Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. American Journal of Medical Genetics, 103, 106–114.

    Article  PubMed  Google Scholar 

  • Sankar, P., Cho, M. K., Wolpe, P. R., & Schairer, C. (2006). What is in a cause? Exploring the relationship between genetic cause and felt stigma. Genetics in Medicine, 8(1), 33–42.

    Article  PubMed  PubMed Central  Google Scholar 

  • Sapp, J. C., Dong, D., Stark, C., Ivey, L. E., Hooker, G., Biesecker, L. G., et al. (2014). Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clinical Genetics, 85, 120–126.

    Article  PubMed  Google Scholar 

  • 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, 399–407.

    Article  PubMed  Google Scholar 

  • Scherer, S. W., & Dawson, G. (2011). Risk factors for autism: Translating genomic discoveries into diagnostics. Human Genetics, 130, 123–148.

    Article  PubMed  Google Scholar 

  • Senior, V., & Marteau, T. M. (2007). Causal attributions for raised cholesterol and perceptions of effective risk-reduction: Self-regulation strategies for an increased risk of coronary heart disease. Psychology & Health, 22, 699–717.

    Article  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.

    Article  PubMed  PubMed Central  Google Scholar 

  • Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., et al. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125, e727–e735.

    Article  PubMed  PubMed Central  Google Scholar 

  • Shostak, S., Zarhin, D., & Ottman, R. (2011). What’s at stake? Genetic information from the perspective of people with epilepsy and their family members. Social Science and Medicine, 73, 645–654.

    PubMed  PubMed Central  Google Scholar 

  • Silverman, C. (2011). Understanding autism: Parents, doctors, and the history of a disorder: Princeton, NJ: Princeton University Press.

    Book  Google Scholar 

  • Singer, E., Antonucci, T., & Van Hoewyk, J. (2004). Racial and ethnic variations in knowledge and attitudes about genetic testing. Genetic testing, 8, 31–43.

    Article  PubMed  Google Scholar 

  • Skinner, D., Raspberry, K. A., & King, M. (2016). The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociology of Health & Illness, 38, 1303–1317

    Article  Google 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.

    Article  PubMed  Google Scholar 

  • Trottier, M., Roberts, W., Drmic, I., Scherer, S. W., Weksberg, R., Cytrynbaum, C., et al. (2013). Parents’ perspectives on participating in genetic research in autism. Journal of Autism and Developmental Disorders, 43, 556–568.

    Article  PubMed  Google Scholar 

  • Truitt, M., Biesecker, B., Capone, G., Bailey, T., & Erby, L. (2012). The role of hope in adaptation to uncertainty: The experience of caregivers of children with down syndrome. Patient Education and Counseling, 87, 233–238.

    Article  PubMed  Google Scholar 

  • Veenstra-Vanderweele, J., Christian, S. L., & Cook, E. H. Jr. (2004). Autism as a paradigmatic complex genetic disorder. Annual Review of Genomics and Human Genetics, 5, 379–405.

    Article  PubMed  Google Scholar 

  • Walsh, P., Elsabbagh, M., Bolton, P., & Singh, I. (2011). In search of biomarkers for autism: Scientific, social and ethical challenges. Nature Reviews Neuroscience, 12, 603–612.

    Article  PubMed  Google Scholar 

  • Whitmarsh, I., Davis, A.M., Skinner, D., & Bailey, D.B., Jr. (2007). A place for genetic uncertainty: Parents valuing an unknown in the meaning of disease. Social science & medicine (1982), 65, 1082–1093.

    Article  Google Scholar 

  • Williams-Jones, B. (1999). Concepts of personhood and the commodification of the body. Health Law Review, 7, 11–13.

    Google Scholar 

  • Withrow, K. A., Burton, S., Arnos, K. S., Kalfoglou, A., & Pandya, A. (2008). Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. Journal of genetic counseling, 17, 252–260.

    Article  PubMed  Google Scholar 

  • Yudell, M., Tabor, H.K., Dawson, G., Rossi, J., Newschaffer, C., Working Group in Autism Risk, C., et al. (2013). Priorities for autism spectrum disorder risk communication and ethics. Autism, 17, 701–722.

    Article  PubMed  Google Scholar 

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Acknowledgments

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.

Author Contributions

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.

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Author notes

  1. Marian Reiff

    Present address: Counseling and Psychological Services, University of Pennsylvania, Philadelphia, PA, USA

  2. Eva Bugos

    Present address: Department of Population, Family, and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, USA

Authors and Affiliations

  1. Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3624 Market Street, Philadelphia, PA, 19104, USA

    Marian Reiff

  2. Mixed Methods Research Lab, University of Pennsylvania, Philadelphia, PA, USA

    Eva Bugos

  3. College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA

    Ellen Giarelli

  4. Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Barbara A. Bernhardt

  5. Division of Genomic Diagnostics and the Division of Human Genetics, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA

    Nancy B. Spinner & Surabhi Mulchandani

  6. Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA, USA

    Pamela L. Sankar

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  1. Marian Reiff
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Correspondence to Marian Reiff.

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Reiff, M., Bugos, E., Giarelli, E. et al. “Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD. J Autism Dev Disord 47, 1453–1463 (2017). https://doi.org/10.1007/s10803-017-3067-7

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