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Journal of Autism and Developmental Disorders

, Volume 49, Issue 1, pp 363–375 | Cite as

Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders

  • Isabelle TremblayEmail author
  • Steffany Grondin
  • Anne-Marie Laberge
  • Dominique Cousineau
  • Lionel Carmant
  • Anita Rowan
  • Annie Janvier
Original Paper

Abstract

Parents’ understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child’s clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.

Keywords

Autism spectrum disorder Global developmental delay Array comparative genomic hybridization (aCGH) Genetic testing Chromosomal microarray (CMA) testing Misconception 

Abbreviations

ASD

Autism spectrum disorder

aCGH

Array comparative genomic hybridization

CMA

Chromosomal microarray

GDD

Global developmental delay

VUS

Variant of unknown significance

Notes

Acknowledgments

We would like to thank the CHU Sainte-Justine, the Medicine Faculty of University of Montreal and the Fondation du Grand Défi Pierre Lavoie for their financial support. Finally, we would like to thank every parent who participated to this study.

Financial Support

Isabelle Tremblay received financial support (scholarship) from the CHU Sainte-Justine, the Faculty of Medicine of University of Montreal and the Fondation du Grand Défi Pierre Lavoie. Anne-Marie Laberge received financial support from the Canadian Institutes of Health Research and the Fonds de Recherche en Santé du Québec. Annie Janvier receives financial support from the Fonds de Recherche en Santé du Québec.

Author Contributions

IT co-designed the study, wrote the study protocol, performed thematic analysis and quantitative analysis and wrote the initial manuscript. SG conducted interviews, performed thematic analysis and quantitative analysis and contributed to the first version of manuscript. AML co-designed the study, gave feedback during data collection and analysis, reviewed the manuscript and accepted the final version of the article. DC co-designed the study, reviewed the manuscript and accepted the final version of the article. LC co-designed the study, reviewed the manuscript and accepted the final version of the article. AR co-designed the study, reviewed the manuscript and accepted the final version of the article. AJ co-designed the study, reviewed the study protocol, performed thematic analysis, contributed to the first version of the manuscript. Reviewed the manuscript and accepted the final version of the article. All authors read and approved the final manuscript.

Compliance with Ethical Standards

Conflict of interest

Isabelle Tremblay has received financial support (scholarship) from the CHU Sainte-Justine, the Medicine Faculty of University of Montreal and the Fondation du Grand Défi Pierre Lavoie. Steffany Grondin, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan and Annie Janvier declares that they have no conflict of interest.

Ethical Approval

All procedure performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This study was approved by the ethical board of the CHU Sainte-Justine.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10803_2018_3768_MOESM1_ESM.docx (21 kb)
Supplementary material 1 (DOCX 21 KB)

References

  1. Adam, M. P., Justice, A. N., Schelley, S., Kwan, A., Hudgins, L., & Martin, C. L. (2009). Clinical utility of array comparative genomic hybridization: Uncovering tumor susceptibility in individuals with developmental delay. Journal of Pediatrics, 154(1), 143–146.CrossRefGoogle Scholar
  2. American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC.Google Scholar
  3. Barak-Levy, Y., & Atzaba-Poria, N. (2013). Paternal versus maternal coping styles with child diagnosis of developmental delay. Research in Developmental Disabilities, 34(6), 2040–2046.CrossRefGoogle Scholar
  4. Baxter, A. J., Brugha, T. S., Erskine, H. E., Scheurer, R. W., Vos, T., & Scott, J. G. (2015). The epidemiology and global burden of autism spectrum disorders. Psychological Medicine, 45(3), 601–613.CrossRefGoogle Scholar
  5. Beaudet, L. (2013). The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Development, 84(1), 121–132.CrossRefGoogle Scholar
  6. Bester, J., Cole, C. M., & Kodish, E. (2016). The limits of informed consent for an overwhelmed patient: Clinician’s role in protecting patients and preventing overwhelm. AMA Journal of Ethics, 18(9), 869–896.CrossRefGoogle Scholar
  7. Bremer, A., Giacobini, M., Erikssonm, M., Gustavsson, P., Nordin, V., Fernell, E., et al. (2011). Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. American Journal of Medical Genetics, 156(2), 115–124.CrossRefGoogle Scholar
  8. Castro, F. G., Kellisson, J. Gm, Boyd, S. J., & Kopak, A. (2010). A methodology for conducting integrative mixed methods research and data analyses. Journal of Mixed Methods Research, 4(4), 342–360.CrossRefGoogle Scholar
  9. Chen, K. T., Ma, G. C., Chang, T. M., & Chen, M. (2011). Array-CGH identification of cryptic submicroscopic imbalances in handicapped children when their mothers are seeking subsequent pregnancies. Chromosome Research, 19, S205–S206.CrossRefGoogle Scholar
  10. 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.CrossRefGoogle Scholar
  11. Coulter, M. E., Miller, D. T., Harris, D. J., Hawley, P., Picker, J., Roberts, A. E., et al. (2011). Chromosomal microarray testing influences medical management. Genetics in Medicine, 13(9), 770–776.CrossRefGoogle Scholar
  12. Creswell, J. W. (2003). Research design: Qualitative, quantitative and mixed method approaches (2nd edn.). Thousand Oaks (CA): Sage Publications.Google Scholar
  13. D’Arrigo, S., Gavazz, F., Alfei, E., Zuffardi, O., Montomoli, C., Corso, B., et al. (2016). The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children. Journal of Child Neurology, 31(6), 691–699.CrossRefGoogle Scholar
  14. Dawson, A. J., Riordan, D., Tomiuk, M., Konkin, D., Anderson, T., Bocangel, P., et al. (2009). Cytogenetic microarrays in Manitoba patients with developmental delay. Clinical Genetics, 75(5), 498–500.CrossRefGoogle Scholar
  15. Denzin, N. K., & Lincoln, Y. S. (2000). Handbook of qualitative research (2nd edn.). Thousand Oaks (CA): Sage Publications.Google Scholar
  16. Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., et al. (2012). Clinical utility of chromosomal microarray analysis. Pediatrics, 130(5), e1085–e1095.CrossRefGoogle Scholar
  17. Frankel, L. A., Pereira, S., & McGuire, A. L. (2016). Potential psychosocial risks of sequencing newborns. Pediatrics, 137(Suppl 1), S24–S29.CrossRefGoogle Scholar
  18. 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(9), 657–664.CrossRefGoogle Scholar
  19. Hsieh, H. F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288.CrossRefGoogle Scholar
  20. Kayrouz, N., Milne, S. L., & McDonald, J. L. (2017). Social disadvantage and developmental diagnosis in pre-schoolers. Journal of Paediatrics and Child Health, 53(6), 563–568.CrossRefGoogle Scholar
  21. Kiedrowski, L. A., Owens, K. M., Yashar, B. M., & Schuette, J. L. (2016). Parents’ perspectives on variants of uncertain significance from chromosome microarray analysis. Journal of Genetic Counseling, 25(1), 101–111.CrossRefGoogle Scholar
  22. Krabbenborg, L., Vissers, L. E., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, et al. (2016). Understanding the psychosocial effects of WES test results on parents of children with rare diseases. Journal of Genetic Counseling, 25(6), 1207–1214.CrossRefGoogle Scholar
  23. Lingen, M., Albers, L., Borchers, M., Haass, S., Gartner, J., Schroder, S., et al. (2016). Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life. Clinical Genetics, 89(2), 258–266.CrossRefGoogle Scholar
  24. Linsell, L., Malouf, R., Morris, J., Kurinczuk, J. J., & Marlow, N. (2015). Prognostic factors for poor cognitive development in children born very preterm or with very low birth weight: A systematic review. JAMA Pediatrics, 169(12), 1162–1172.CrossRefGoogle Scholar
  25. Manning, M., & Hudgins, L. (2010). Professional practice and guidelines Committee. Array-based technology and recommendations for utilization in medical genetics provide for detection of chromosomal abnormalities. Genetics in Medicine, 12, 742–745.CrossRefGoogle Scholar
  26. Michelson, D. J., Shevell, M. I., Sherr, M. H., Moeschler, J. B., Gropman, A. L., & Ashwal, S. (2011). Evidence report: Genetic and metabolic testing on children with global developmental delay. Report of the quality standards subcommittee of the American Academy of neurology and the practice committee of the child neurology society. Neurology, 77(17), 1629–1635.CrossRefGoogle Scholar
  27. Moeschler, J. B., & Shevell, M., American Academy of Pediatrics Committee on Genetics (2006). Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics, 117(6), 2304–2316.CrossRefGoogle Scholar
  28. Moeschler, J. B., & Shevell, M. and Committee on Genetics. (2014). Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 134 (3), e903–e918.CrossRefGoogle Scholar
  29. Nygren, G., Cederlund, M., Sandberg, E., Gillstedt, F., Arvidsson, T., Gillberg, C., I. et al (2012). The prevalence of autism spectrum disorders in toddlers: A population study of 2-year-old Swedish children. Journal of Autism and Developmental Disorders, 42(7), 1491–1497.CrossRefGoogle Scholar
  30. Public Health Agency of Canada. (2018). Autism spectrum disorder among children and youth in Canada 2018: A report of the national autism spectrum disorder surveillance system. Ottawa: Public Health Agency of Canada.Google Scholar
  31. Raymond, F. L. (2003). Genetic services for people with intellectual disability and their families. Journal of Intellectual Disability Research, 47(7), 509–514.CrossRefGoogle Scholar
  32. Saam, J., Gudgeon, J., Aston, E., & Brothman, A. R. (2008). How physicians use array comparative genomic hybridization in results to guide patient management in children with developmental delay. Genetics in Medicine, 10(3), 181–186.CrossRefGoogle Scholar
  33. Shaffer, L. G. & American College of Medical Genetics Professional Practice and Guidelines Committee (2005). American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genetics in Medicine, 7(9), 650–654.CrossRefGoogle Scholar
  34. Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine, 7(8), 584–587.CrossRefGoogle Scholar
  35. Shevell, M., Ashwal, S., Donley, D., Flint, J., Gingold, M., Hirtz, D., et al. (2003). Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 60(3), 367–380.CrossRefGoogle Scholar
  36. Shur, N., Gunn, S., Feit, L., Oh, A. K., Yatchmink, Y., & Abuelo, D. (2011). The role of new genetic technology in investigating autism and developmental delay. Medicine & Health/Rhode Island, 94(5), 134–137.Google Scholar
  37. Tammimies, K., Marshall, C. R., Walker, S., Kaurm, G., Thiruvahindrapuram, B., Lionel, A. C., et al. (2015). Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA, 314(9), 895–903.CrossRefGoogle Scholar
  38. Thomaidis, L., Zantopoulos, G. Z., Fouzas, S., Mantagou, L., Bakoula, C., & Konstantopoulos, A. (2014). Predictors of severity and outcome of global developmental delay without definitive etiologic yield: A prospective observational study. BMC Pediatrics, 14, 40.  https://doi.org/10.1186/1471-2431-14-40.CrossRefGoogle Scholar
  39. Tremblay, I., Laberge, A. M., Cousineau, D., Carmant, L., Rowan, A., & Janvier, A. (2017). Paediatricians’ expectations and perspectives regarding genetic testing for children with developmental disorders. Acta Paediatrica, 107(5), 838–844.CrossRefGoogle Scholar
  40. Valla, L., Wentzel-Larsen, T., Hofoss, D., & Slinning, K. (2015). Prevalence of suspected developmental delays in early infancy: Results from a regional population-based longitudinal study. BMC Pediatrics, 15, 215.  https://doi.org/10.1186/s12887-015-0528-z.CrossRefGoogle Scholar
  41. Van Hoyweghen, I., & Rebert, L. (2012). Your genes in insurance: From genetic discrimination to genomic solidarity. Personalized Medicine, 9(8), 871–877.CrossRefGoogle Scholar
  42. Wilkins, E. J., Archibald, A. D., Sahhar, A. D., & White, S. M. (2016). It wasn’t a disaster or anything: Parent’s experience of their child’s uncertain chromosomal microarray result. American Journal of Medical Genetics, 170(11), 2895–2904.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Psychology, Department of Medical Genetics, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.), Clinical Ethics UnitCHU Sainte-JustineMontréalCanada
  2. 2.Centre de génétique cardiovasculaireInstitut de cardiologie de MontréalMontréalCanada
  3. 3.Department of Medical Genetics, CHU Sainte-Justine Research CenterCHU Sainte-JustineMontréalCanada
  4. 4.Department of Pediatrics, Department of Pediatrics of the Université de Montréal, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.)CHU Sainte-JustineMontréalCanada
  5. 5.Department of Neurology, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.), CHU Sainte-Justine Research CenterCHU Sainte-JustineMontréalCanada
  6. 6.Parent RepresentativeMontréalCanada
  7. 7.Division of Neonatology of the CHU Sainte-Justine, Department of Pediatrics of the Université de Montréal, Palliative Care Unit, Clinical Ethics Unit, CHU Sainte-Justine Research Center, Bureau de l’éthique cliniqueUnité de recherche en éthique clinique et partenariat famille (UREPAF)MontréalCanada

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