Advertisement

Journal of Autism and Developmental Disorders

, Volume 43, Issue 3, pp 556–568 | Cite as

Parents’ Perspectives on Participating in Genetic Research in Autism

  • Magan Trottier
  • Wendy Roberts
  • Irene Drmic
  • Stephen W. Scherer
  • Rosanna Weksberg
  • Cheryl Cytrynbaum
  • David Chitayat
  • Cheryl ShumanEmail author
  • Fiona A. Miller
Article

Abstract

Genetic research in autism depends on the willingness of individuals with autism to participate; thus, there is a duty to assess participants’ needs in the research process. We report on families’ motives and expectations related to their participation in autism genetic research. Respondents valued having a genetic result, as it alleviates guilt, promotes awareness, and may be used to tailor interventions and for family planning. The act of participating was distinctly significant, as it provided personal control, a connection to autism experts, networking with families, and hope for the future. The results of this study highlight complex factors involved in families’ decisions to participate in autism genetic research and provide points to consider for this population of research participants.

Keywords

Autism Parent experiences Genetic research Motivations Expectations Genetic result 

Notes

Acknowledgments

Magan Trottier would like to acknowledge the support and assistance of her colleagues, Laura Winter, Melanie Napier and Nolan D’Souza and members of her Scientific Committee. Stephen W. Scherer holds the GlaxoSmithKline-CIHR Chair in Genome Sciences at the Hospital for Sick Children and University of Toronto. This research was supported by the Trainee Start-Up Fund at the Hospital for Sick Children’s Research Institute.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. Abelson, J., Miller, F. A., & Giacomini, M. (2009). What does it mean to trust a health care system? A qualitative study of Canadian health care values. Health Policy, 91(1), 60–63.CrossRefGoogle Scholar
  2. Bailey, A., LeCouteur, A., Gottesman, I., Bolton, P., Siminoff, E., Yuzda, E., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25(1), 63–77.PubMedCrossRefGoogle Scholar
  3. Baret, L., & Godard, B. (2011). Opinions and intentions of parents of an autistic child toward genetic results: Two typical profiles. European Journal of Human Genetics, 19(11), 1127–1132.PubMedCrossRefGoogle Scholar
  4. Berkenstadt, M., Shiloh, S., Barkai, G., Katznelson, M. B., & Goldman, B. (1999). Perceived personal control (PPC): A new concept in measuring outcome of genetic counseling. American Journal of Medical Genetics, 82(1), 53–59.PubMedCrossRefGoogle Scholar
  5. Bouma, R., & Schweitzer, R. (1990). The impact of chronic childhood illness on family stress: A comparison between autism and cystic fibrosis. Journal of Clinical Psychology, 46(6), 722–730.PubMedCrossRefGoogle Scholar
  6. Canvin, K., & Jacoby, A. (2006). Duty, desire or indifference? A qualitative study of patient decisions about recruitment to an epilepsy treatment trial. Trials, 12(7), 19–32.Google Scholar
  7. Charmaz, K. (2000). Grounded theory objectives and constructive methods (2nd ed., pp. 509–535). Thousand Oaks, CA: Sage.Google Scholar
  8. Codori, A. M., Waldeck, T., Petersen, G. M., Miglioretti, D., Trimbath, J. D., & Tillery, M. A. (2005). Genetic counseling outcomes: Perceived risk and distress after counseling for hereditary colorectal cancer. Journal of Genetic Counseling, 14(2), 119–132.PubMedCrossRefGoogle Scholar
  9. Cook, E. H., Jr., & Scherer, S. W. (2008). Copy-number variations associated with neuropsychiatric conditions. Nature, 455(7215), 919–923.PubMedCrossRefGoogle Scholar
  10. Croyle, R. T., Dutson, D. S., Tran, V. T., & Sun, Y. C. (1995). Need for certainty and interest in genetic testing. Women’s Health, 1(4), 329–339.PubMedGoogle Scholar
  11. Folstein, S., & Rutter, M. (1977). Genetic influences and infantile autism. Nature, 265(5596), 726–728.PubMedCrossRefGoogle Scholar
  12. Fombonne, E. (2005). Epidemiological studies of autism and pervasive developmental disorders. In F. Volkmar (Ed.), Handbook of autism and pervasive developmental disorders (3rd ed., pp. 42–69). New York: Wiley.Google Scholar
  13. Geller, G., Tambor, E. S., Chase, G. A., & Holtzman, N. A. (1993). Measuring physicians’ tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Medical Care, 31(11), 989–1001.PubMedCrossRefGoogle Scholar
  14. Guest, G., Bunce, A., & Johnson, L. (2006). How many interviews are enough? An experiment with data saturation and variability. Field Methods, 18(1), 59–82.CrossRefGoogle Scholar
  15. Hallowell, N., Cooke, S., Crawford, G., Lucassen, A., Parker, M., & Snowdon, C. (2010). An investigation of patients’ motivations for their participation in genetics-related research. Journal of Medical Ethics, 36(1), 37–45.PubMedCrossRefGoogle Scholar
  16. Hayeems, R. Z., Miller, F. A., Li, L., & Bytautas, J. P. (2011). Not so simple: A quasi-experimental study of how researchers adjudicate genetic research results. European Journal of Human Genetics, 19(7), 1–8.CrossRefGoogle Scholar
  17. 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, 142C(4), 232–240.PubMedCrossRefGoogle Scholar
  18. MacLeod, R., Craufurd, D., & Booth, K. (2003). Patients’ perceptions of what makes genetic counseling effective: An interpretative phenomenological analysis. Journal of Health Psychology, 7(2), 145–156.CrossRefGoogle Scholar
  19. Madsen, S. M., Mirza, M. R., Holm, S., Hilsted, K. L., Kampmann, K., & Riis, P. (2002). Attitudes towards clinical research amongst participants and nonparticipants. Journal of Internal Medicine, 251(2), 156–168.PubMedCrossRefGoogle Scholar
  20. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477–488.PubMedCrossRefGoogle Scholar
  21. McAllister, M., Wood, A. M., Dunn, G., Shiloh, S., & Todd, C. (2011). The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom. American Journal of Medical Genetics, 158A(2), 367–372.PubMedGoogle Scholar
  22. Meiser, B., & Dunn, S. (2001). Psychological effect of genetic testing for Huntington’s disease: An update of the literature. Western Journal of Medicine, 174(5), 336–340.PubMedCrossRefGoogle Scholar
  23. Meiser, B., Mitchell, P. B., McGirr, H., Van Herten, M., & Schofield, P. R. (2005). Implications of genetic risk information in families with a high density of bipolar disorder: An exploratory study. Social Science and Medicine, 60(1), 109–118.PubMedCrossRefGoogle Scholar
  24. Meulenkamp, T. M., Gevers, S. K., Bovenberg, J. A., Koppelman, G. H., van Hylckama Vlieg, A., & Smets, E. M. (2010). Communication of biobanks’ research results: What do (potential) participants want? American Journal of Medical Genetics, 152A(10), 2482–2492.PubMedCrossRefGoogle Scholar
  25. Miller, F. A., Giacomini, M., Ahern, C., Roberts, J. S., & de Laat, S. (2008). When research seems like clinical care: A qualitative study of the communication of individual cancer genetic research results. BMC Medical Ethics, 9(4), 1–12.Google Scholar
  26. 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 Medical Genetics, 86(5), 749–764.Google Scholar
  27. 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(8), 867–871.PubMedCrossRefGoogle Scholar
  28. Miller, F. A., Hayeems, R. Z., & Bytautas, J. P. (2012a). What does ‘respect for persons’ require? Attitudes and reported practices of genetics researchers in informing research participants about research. Journal of Medical Ethics, 38(1), 48–52.PubMedCrossRefGoogle Scholar
  29. Miller, F. A., Hayeems, R. Z., Li, L., & Bytautas, J. P. (2012b). One thing leads to another: The cascade of obligations when researchers report genetic research results to study participants. European Journal of Human Genetics, 18(8), 867–871.CrossRefGoogle Scholar
  30. Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A baby sibling’s research consortium study. Pediatrics, 128(3), e488–e495.PubMedGoogle Scholar
  31. Patton, M. Q. (2002). Qualitative research and evaluation methods (3rd ed.). Thousand Oaks/London/Delhi: Sage.Google Scholar
  32. Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368–372.PubMedCrossRefGoogle Scholar
  33. Quillin, J. M., Silberg, J., Jones, R. M., Wilson, D. B., Maes, H., Bowen, D., et al. (2008). Tolerance for ambiguity could influence awareness of breast cancer genetic testing and inform health education. Cancer Causes and Control, 19(10), 1227–1232.PubMedCrossRefGoogle Scholar
  34. Richards, M. P., Ponder, M., Pharoah, P., Everest, S., & Mackay, J. (2003). Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. Journal of Medical Ethics, 29(2), 93–96.PubMedCrossRefGoogle Scholar
  35. Ritvo, E. R., Jorde, L. B., Mason-Brothers, A., Freeman, B. J., Pingree, C., Jones, M. B., et al. (1989). The UCLA-University of Utah epidemiologic survey of autism: Recurrence risk estimates and genetic counseling. American Journal of Psychiatry, 146(8), 1032–1036.PubMedGoogle Scholar
  36. Sanders, J., & Morgan, S. (1997). Family stress and adjustment as perceived by parents of children with autism or Down syndrome: Implications for interventions. Child & Family Behavior Therapy, 19(4), 15–32.CrossRefGoogle Scholar
  37. Scherer, S. W., & Dawson, G. (2011). Risk factors for autism: Translating genomic discoveries into diagnostics. Human Genetics, 130(1), 123–148.PubMedCrossRefGoogle Scholar
  38. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445–449.PubMedCrossRefGoogle Scholar
  39. 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(4), 727–735.CrossRefGoogle Scholar
  40. Simons Foundation. (2010). Simons VIP connect: Simons variation in individuals project (VIP). Copyright, Simons Foundation, 2010. http://www.simonsvipconnect.org/. Accessed March 16, 2012.
  41. Slevin, M., Mossman, J., Bowling, A., Leonard, R., Steward, W., Harper, P., et al. (1995). Volunteers or victims: Patients’ views of randomised cancer clinical trials. British Journal of Cancer, 71(6), 1270–1274.PubMedCrossRefGoogle Scholar
  42. State, M. W., & Levitt, P. (2011). The conundrums of understanding genetic risks for autism spectrum disorders. Nature Neuroscience, 14(12), 1499–1506.PubMedCrossRefGoogle Scholar
  43. Stolt, G. U., Liss, P. E., Svensson, T., & Ludvigsson, J. (2002). Attitudes to bioethical issues: A case study of a screening project. Social Science and Medicine, 54(9), 1333–1344.PubMedCrossRefGoogle Scholar
  44. Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.PubMedCrossRefGoogle Scholar
  45. Tabor, H., & Cho, M. (2007). Ethical implications of array comparative genomic hybridization in complex phenotypes: Points to consider in research. Genetics in Medicine, 9(9), 626–631.PubMedCrossRefGoogle Scholar
  46. Tambor, E. S., Bernhardt, B. A., Chase, G. A., Faden, R. R., Geller, G., Hofman, K. J., et al. (1994). Offering cystic fibrosis carrier screening to an HMP population: Factors associated with utilization. American Journal of Human Genetics, 55(4), 626–637.PubMedGoogle Scholar
  47. Treloar, S. A., Morley, K. I., Taylor, S. D., & Hall, W. D. (2007). Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis. Community Genetics, 10(2), 60–71.CrossRefGoogle Scholar
  48. Walsh, P., Elsabbagh, M., Bolton, P., & Singh, I. (2011). In search of biomarkers for autism: Scientific, social and ethical challenges. Nature Reviews, 12(10), 603–612.PubMedCrossRefGoogle Scholar
  49. Webb, S. (2010). Drugmakers dance with autism. Nature Biotechnology, 28(8), 772–774.PubMedCrossRefGoogle Scholar
  50. Weiss, M. (2002). Hardiness and social support as predictors of stress in mothers of typical children, children with autism, and children with mental retardation. Autism, 6(1), 115–130.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Magan Trottier
    • 1
    • 2
  • Wendy Roberts
    • 3
    • 4
    • 5
  • Irene Drmic
    • 3
  • Stephen W. Scherer
    • 2
    • 6
    • 7
  • Rosanna Weksberg
    • 1
    • 2
    • 5
    • 7
  • Cheryl Cytrynbaum
    • 1
    • 2
  • David Chitayat
    • 1
    • 2
    • 5
    • 8
  • Cheryl Shuman
    • 1
    • 2
    Email author
  • Fiona A. Miller
    • 9
  1. 1.Division of Clinical and Metabolic GeneticsThe Hospital for Sick ChildrenTorontoCanada
  2. 2.Department of Molecular GeneticsUniversity of TorontoTorontoCanada
  3. 3.Autism Research UnitThe Hospital for Sick ChildrenTorontoCanada
  4. 4.Holland Bloorview Kids Rehabilitation HospitalTorontoCanada
  5. 5.Department of PediatricsUniversity of TorontoTorontoCanada
  6. 6.The Centre for Applied Genomics, The Hospital for Sick ChildrenTorontoCanada
  7. 7.Program in Genetics and Genome BiologyThe Hospital for Sick ChildrenTorontoCanada
  8. 8.Department of Obstetrics and GynecologyThe Prenatal Diagnosis and Medical Genetics Program, Mount Sinai HospitalTorontoCanada
  9. 9.Institute of Health Policy, Management and EvaluationredUniversity of TorontoTorontoCanada

Personalised recommendations