Journal of Genetic Counseling

, Volume 21, Issue 6, pp 803–813 | Cite as

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation

  • Kimberly Vande Wydeven
  • Andrea Kwan
  • Antonio Y. Hardan
  • Jonathan A. Bernstein
Original Research


Reasons for the underutilization of genetics services by families of children with autism spectrum disorders (ASD) are not well understood. We report the identification of factors associated with this underuse. Survey-based study of parents and/or guardians of children with ASD. One hundred fifty-five families completed the questionnaire. Thirty-one of 155 (20%) children had seen a genetics professional. Forty-nine of 154 (32%) children had undergone genetic testing. Parents whose child saw a genetics professional were more likely to 1) Have a primary provider refer for or suggest a genetics evaluation 2) Have asked for a referral, and/or 3) Know another person with a genetic cause of ASD. amilies of children with ASD who have not received genetics services are less aware of their availability and utility. They are also less likely to have their provider recommend a clinical genetics evaluation. Efforts should be taken to increase awareness of both health providers and parents regarding the usefulness of genetics services for ASD.


Autism spectrum disorders Genetics services Utilization Access to care Genetic testing 



Subjects were recruited with the assistance of the Autism and Developmental Disabilities Clinic at Stanford University and the Interactive Autism Network (IAN) Project at the Kennedy Krieger Institute, Baltimore, Maryland. We also wish to acknowledge Raymond R. Balise and Catherine Ley at Stanford University for assistance in statistical analysis methods. Lastly, we wish to thank the survey respondents for their participation in this research. This work was supported by funding through the MS Program in Human Genetics and Genetic Counseling at Stanford University.

Disclosure of interest

The authors have no conflicts of interest or disclosures to declare in relation to this manuscript. The authors have full control of all primary data and agree to allow the journal to review this data if requested.

Supplementary material

10897_2012_9494_MOESM1_ESM.pdf (153 kb)
Table SI Factors Influencing Utilization of Genetics Services for Autism Spectrum Disorders. (PDF 153 kb)
10897_2012_9494_MOESM2_ESM.pdf (102 kb)
FigS1 Influences on Use of Genetics Services for Families of Children with Autism Spectrum Disorders. (PDF 102 kb)
10897_2012_9494_MOESM3_ESM.pdf (270 kb)
FigS2 Utilization of Genetic Testing. (PDF 269 kb)
10897_2012_9494_MOESM4_ESM.pdf (147 kb)
FigS3 Referral and Primary Provider Role. (PDF 147 kb)
10897_2012_9494_MOESM5_ESM.pdf (119 kb)
FigS4 Parental Awareness. (PDF 118 kb)


  1. Abdul-Rahman, O. A., & Hudgins, L. (2006). The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genetics in Medicine, 8(1), 50–54.PubMedCrossRefGoogle Scholar
  2. American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders, Fourth Edition, Text Revision. Washington: DC.Google Scholar
  3. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: evidence from a British twin study. Psychological Medicine, 25(1), 63–77.PubMedCrossRefGoogle Scholar
  4. 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 & Adolescent Medicine, 160(11), 1167–1175.CrossRefGoogle Scholar
  5. Cappelli, M., Surh, L., Humphreys, L., Verma, S., Logan, D., Hunter, A., & Allanson, J. (1999). Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer. Clinical Genetics, 55(6), 419–430.PubMedCrossRefGoogle Scholar
  6. Challman, T. D., Barbaresi, W. J., Katusic, S. K., & Weaver, A. (2003). The yield of the medical evaluation of children with pervasive developmental disorders. Journal of Autism and Developmental Disorders, 33(2), 187–192.PubMedCrossRefGoogle Scholar
  7. Chudley, A. E., Gutierrez, E., Jocelyn, L. J., & Chodirker, B. N. (1998). Outcomes of genetic evaluation in children with pervasive developmental disorder. Journal of Developmental and Behavioral Pediatrics, 19(5), 321–325.PubMedCrossRefGoogle Scholar
  8. Culver, J., Burke, W., Yasui, Y., Durfy, S., & Press, N. (2001). Participation in breast cancer genetic couneeling: the influence of educational level, ethnic background and risk perception. Journal of Genetic Counseling, 10(3), 215–231.CrossRefGoogle Scholar
  9. Edwards, C. (2003). Diversity and cultural competence, Part 2: Issues of practical conceptualization and implementation. The North Carolina Psychologist, November-December 2003.Google Scholar
  10. Elder, J. H. (2001). A follow-up study of beliefs held by parents of children with pervasive developmental delay. Journal of Child and Adolescent Psychiatric Nursing, 14(2), 55–60.PubMedCrossRefGoogle Scholar
  11. Esser-Stuart, J. E., & Lyons, M. A. (2002). Barriers and influences in seeking health care among lower income minority women. Social Work in Health Care, 35(3), 85–99.PubMedCrossRefGoogle Scholar
  12. Filipek, P. A., Accardo, P. J., Ashwal, S., Baranek, G. T., Cook, E. H., Jr., Dawson, G., Gordon, B., et al. (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.PubMedCrossRefGoogle Scholar
  13. Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Reviews. Genetics, 2(12), 943–955.PubMedCrossRefGoogle Scholar
  14. Glanz, K., Rimer, B. K., & Lewis, F. M. (2002). Health behavior and health education: theory, research, and practice (3rd ed.). San Francisco: Jossey-Bass.Google Scholar
  15. Gray, D. E. (1995). Lay conceptions of autism: parents' explanatory models. Medical Anthropology, 16(2), 99–118.PubMedGoogle Scholar
  16. Gupta, A. R., & State, M. W. (2007). Recent advances in the genetics of autism. Biological Psychiatry, 61(4), 429–437.PubMedCrossRefGoogle Scholar
  17. Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., et al. (2011). Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism. Arch Gen Psychiatry. Online first, E1-E8.Google Scholar
  18. Harrington, J. W., Patrick, P. A., Edwards, K. S., & Brand, D. A. (2006). Parental beliefs about autism: implications for the treating physician. Autism, 10(5), 452–462.PubMedCrossRefGoogle Scholar
  19. Harrington, J. W., Rosen, L., Garnecho, A., & Patrick, P. A. (2006). Parental perceptions and use of complementary and alternative medicine practices for children with autistic spectrum disorders in private practice. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S156–161.PubMedCrossRefGoogle Scholar
  20. Herman, G. E., Henninger, N., Ratliff-Schaub, K., Pastore, M., Fitzgerald, S., & McBride, K. L. (2007). Genetic testing in autism: how much is enough? Genetics in Medicine, 9(5), 268–274.PubMedCrossRefGoogle Scholar
  21. Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.PubMedCrossRefGoogle Scholar
  22. Jorde, L. B., Mason-Brothers, A., Waldmann, R., Ritvo, E. R., Freeman, B. J., Pingree, C., McMahon, W. M., et al. (1990). The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. American Journal of Medical Genetics, 36(1), 85–88.PubMedCrossRefGoogle Scholar
  23. Kelly, A. M., Kratz, B., Bielski, M., & Rinehart, P. M. (2002). Implementing transitions for youth with complex chronic conditions using the medical home model. Pediatrics, 110(6 Pt 2), 1322–1327.PubMedGoogle Scholar
  24. Kinney, A. Y., Gammon, A., Coxworth, J., Simonsen, S. E., & Arce-Laretta, M. (2010). Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies. Genetics in Medicine, 12(2), 105–115.PubMedCrossRefGoogle Scholar
  25. Kogan, M. D., Strickland, B. B., Blumberg, S. J., Singh, G. K., Perrin, J. M., & van Dyck, P. C. (2008). A national profile of the health care experiences and family impact of autism spectrum disorder among children in the United States, 2005–2006. Pediatrics, 122(6), e1149–1158.PubMedCrossRefGoogle Scholar
  26. Krauss, M. W., Gulley, S., Sciegaj, M., & Wells, N. (2003). Access to specialty medical care for children with mental retardation, autism, and other special health care needs. Mental Retardation, 41(5), 329–339.PubMedCrossRefGoogle Scholar
  27. Lerman, C., Schwartz, M. D., Lin, T. H., Hughes, C., Narod, S., & Lynch, H. T. (1997). The influence of psychological distress on use of genetic testing for cancer risk. Journal of Consulting and Clinical Psychology, 65(3), 414–420.PubMedCrossRefGoogle Scholar
  28. Lerman, C., Croyle, R. T., Tercyak, K. P., & Hamann, H. (2002). Genetic testing: psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784–797.PubMedCrossRefGoogle Scholar
  29. Lichtenstein, P., Carlstrom, E., Rastam, M., Gillberg, C., & Anckarsater, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. The American Journal of Psychiatry, 167(11), 1357–1363.PubMedCrossRefGoogle Scholar
  30. MacNew, H. G., Rudolph, R., Brower, S. T., Beck, A. N., & Meister, E. A. (2010). Assessing the knowledge and attitudes regarding genetic testing for breast cancer risk in our region of southeastern Georgia. The Breast Journal, 16(2), 189–192.PubMedCrossRefGoogle Scholar
  31. Marcus, L., Garfinkle, A., & Wolery, M. (2002). Issues in Early Diagnosis and Intervention with Young Children with Autism. In E. Schopler, & N. Yirmiya, (Eds.), The research basis for autism intervention, 171–185.Google Scholar
  32. Martinez, M. a. C. R. (2010). Health insurance coverage: early release of estimates from the national health interview survey, January–September 2009. National Center for Health Statistics, Division of Health Interview Statistics.Google Scholar
  33. McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 14(4), 249–270.PubMedCrossRefGoogle Scholar
  34. McEachin, J. J., Smith, T., & Lovaas, O. I. (1993). Long-term outcome for children with autism who received early intensive behavioral treatment. American Journal of Mental Retardation, 97(4), 359–372. discussion 373–391.PubMedGoogle Scholar
  35. McGrath, R. J., Laflamme, D. J., Schwartz, A. P., Stransky, M., & Moeschler, J. B. (2009). Access to genetic counseling for children with autism, Down syndrome, and intellectual disabilities. Pediatrics, 124(Suppl 4), S443–449.PubMedCrossRefGoogle Scholar
  36. Medical Home Initiatives for Children With Special Needs Project Advisory Committee (2002). The Medical Home Pediatrics, 110(1 Pt 1), 184–186.Google Scholar
  37. Meiser, B. (2005). Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psycho-Oncology, 14(12), 1060–1074.PubMedCrossRefGoogle Scholar
  38. Mercer, L., Creighton, S., Holden, J. J., & Lewis, M. E. (2006). Parental perspectives on the causes of an autism spectrum disorder in their children. Journal of Genetic Counseling, 15(1), 41–50.PubMedCrossRefGoogle Scholar
  39. Mulvihill, B. A., Altarac, M., Swaminathan, S., Kirby, R. S., Kulczycki, A., & Ellis, D. E. (2007). Does access to a medical home differ according to child and family characteristics, including special-health-care-needs status, among children in Alabama? Pediatrics, 119(Suppl 1), S107–113.PubMedCrossRefGoogle Scholar
  40. Palmer, C. G., Lueddeke, J. T., & Zhou, J. (2009). Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child. Genetics in Medicine, 11(4), 248–255.PubMedCrossRefGoogle Scholar
  41. Pletcher, B. A., Toriello, H. V., Noblin, S. J., Seaver, L. H., Driscoll, D. A., Bennett, R. L., & Gross, S. J. (2007). Indications for genetic referral: a guide for healthcare providers. Genetics in Medicine, 9(6), 385–389.PubMedCrossRefGoogle Scholar
  42. Press, N. A., Yasui, Y., Reynolds, S., Durfy, S. J., & Burke, W. (2001). Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations. American Journal of Medical Genetics, 99(2), 99–110.PubMedCrossRefGoogle Scholar
  43. Prevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, United States, 2006. (2009). MMWR Surveill Summ, 58(10), 1–20.Google Scholar
  44. Riedijk, S. R., de Snoo, F. A., van Dijk, S., Bergman, W., van Haeringen, A., Silberg, S., van Elderen, T. M., et al. (2005). Hereditary melanoma and predictive genetic testing: why not? Psycho-Oncology, 14(9), 738–745.PubMedCrossRefGoogle Scholar
  45. Ronald, A., Happe, F., Bolton, P., Butcher, L. M., Price, T. S., Wheelwright, S., Baron-Cohen, S., et al. (2006). Genetic heterogeneity between the three components of the autism spectrum: a twin study. Journal of the American Academy of Child and Adolescent Psychiatry, 45(6), 691–699.PubMedCrossRefGoogle Scholar
  46. Rosen, B., Wolpert, S., Donnelly, M., Pericak-Vance, V. A., & Folstein, S. (2000). Surveying parents of children with autism: what is their understanding of the genetic basis for this disorder? Journal of Genetic Counseling, 9(9), 547.Google Scholar
  47. Rosen-Sheidley, B., Wolpert, C., Fiego-Schiffman, J., Palmer, C., Folstein, S., & Pericak-Vance, M. (2002). Web-based survey of families with autism: reassessing the need for genetic education. Journal of Genetic Counseling, 11(6), 488.Google Scholar
  48. Ruble, L. A., Heflinger, C. A., Renfrew, J. W., & Saunders, R. C. (2005). Access and service use by children with autism spectrum disorders in Medicaid Managed Care. Journal of Autism and Developmental Disorders, 35(1), 3–13.PubMedCrossRefGoogle Scholar
  49. Rutter, M., Bailey, A., Simonoff, E., & Pickles, A. (1997). Genetic influences and autism. In D. J. Cohen & F. R. Volkmar (Eds.), Autism and pervasive developmental disorders. Google Scholar
  50. Schaefer, G. B., & Lutz, R. E. (2006). Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genetics in Medicine, 8(9), 549–556.PubMedGoogle Scholar
  51. Schaefer, G. B., & Mendelsohn, N. J. (2008). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genetics in Medicine, 10(4), 301–305.PubMedCrossRefGoogle Scholar
  52. Selkirk, C. G., McCarthy Veach, P., Lian, F., Schimmenti, L., & LeRoy, B. S. (2009). Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: recommendations for genetic counselors. Journal of Genetic Counseling, 18(5), 507–519.PubMedCrossRefGoogle Scholar
  53. Simon, M. S., & Petrucelli, N. (2009). Hereditary breast and ovarian cancer syndrome: the impact of race on uptake of genetic counseling and testing. Methods in Molecular Biology, 471, 487–500.PubMedCrossRefGoogle Scholar
  54. Simonoff, E. (1998). Genetic counseling in autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 28(5), 447–456.PubMedCrossRefGoogle Scholar
  55. Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.PubMedCrossRefGoogle Scholar
  56. Taniai, H., Nishiyama, T., Miyachi, T., Imaeda, M., & Sumi, S. (2008). Genetic influences on the broad spectrum of autism: study of proband-ascertained twins. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 147B(6), 844–849.CrossRefGoogle Scholar
  57. Thomas, K. C., Ellis, A. R., McLaurin, C., Daniels, J., & Morrissey, J. P. (2007). Access to care for autism-related services. Journal of Autism and Developmental Disorders, 37(10), 1902–1912.PubMedCrossRefGoogle Scholar
  58. Wang, G., & Watts, C. (2007). Genetic counseling, insurance status, and elements of medical home: analysis of the national survey of children with special health care needs. Maternal and Child Health Journal, 11(6), 559–567.PubMedCrossRefGoogle Scholar
  59. Whitelaw, C., Flett, P., & Amor, D. J. (2007). Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge. Journal of Paediatrics and Child Health, 43(11), 752–754.PubMedCrossRefGoogle Scholar
  60. Wieder, S., & Greenspan, S. I. (2003). Climbing the symbolic ladder in the DIR model through floor time/interactive play. Autism, 7(4), 425–435.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Kimberly Vande Wydeven
    • 1
  • Andrea Kwan
    • 1
    • 2
  • Antonio Y. Hardan
    • 3
  • Jonathan A. Bernstein
    • 2
  1. 1.Department of GeneticsStanford UniversityStanfordUSA
  2. 2.Department of Pediatrics, Division of Medical GeneticsStanford UniversityStanfordUSA
  3. 3.Department of Psychiatry and Behavioral ScienceStanford UniversityStanfordUSA

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