Advertisement

Journal of Genetic Counseling

, Volume 16, Issue 1, pp 97–104 | Cite as

Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey

  • Aimee Anido
  • Lisa M. Carlson
  • Stephanie L. ShermanEmail author
Original Paper

Fragile X syndrome is primarily due to a CGG repeat expansion found in the FMR1 X-linked gene. In a previous study, we conducted focus groups with women to assess their attitudes towards fragile X carrier screening. In this follow-up study, we conducted in-depth interviews of general population reproductive-age women who were identified as carriers. We explored their attitudes toward testing for carrier status of the fragile X mutation. These women underwent screening primarily to participate in a research project rather than in search of a diagnosis for specific symptoms. As such, these women were wholly unprepared for positive carrier results. Their responses about their results and carrier screening, in many cases, were being worked out over the course of the interview itself. The most salient finding of this work is the apparent lack of relevance of carrier status to these women. Many expressed that although the information could be relevant in the future, it is not relevant at this stage of their lives in terms of family planning (either with respect to having unaffected offspring or to premature ovarian failure) and personal relationships. Although issues of abortion seemed prominent in the focus groups, we found that carrier status did not have an apparent effect on women’s attitudes about termination. We hypothesize this may be related to the fact that women had not processed their new carrier status and had not related it to previously-formed personal opinions. The findings of this work have significant implications for genetic counseling and population screening. Genetic counselors should be mindful that general population women may not recognize the immediate importance of their carrier status even when literature is provided and discussed prior to providing a sample. As part of comprehensive genetic counseling, counselors should identify the reproductive life stage of the woman receiving the new information and help her identify when this information would be more meaningful in her life. Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant.

KEY WORDS

population screening fragile X syndrome carrier testing FMR1 

Notes

ACKNOWLEDGMENTS

We would like to thank the ESAL research team for their recruitment efforts and genetic testing. We would also like to thank Dr. Allyn McConkie-Rosell, Ms. Lisa Taft and Ms. Tiffany Woyboy for their helpful discussions. Lastly, we would like to thank all the women who participated in these in-depth interviews for their open discussions. This work was supported by NIH R01 HD29909 and NIH P01 HD35576.

REFERENCES

  1. Anido, A., Carlson, L. M., Taft, L., & Sherman, S. L. (2005). Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis. J Genet Couns, 14, 295–306.CrossRefGoogle Scholar
  2. Bailey, D. B., Jr., (2004). Newborn screening for fragile X syndrome Ment Retard Dev Disabil Res Rev, 10, 3–10.CrossRefGoogle Scholar
  3. Chapman, E., & Smith, J. A. (2002). Interpretative phenomenological analysis and the new genetics. J Health Psychol, 7, 125–130.CrossRefGoogle Scholar
  4. Clayton, E. W., Hannig, V. L., Pfotenhauer, J. P., Parker, R. A., Campbell 3rd, P. W., & Phillips 3rd, J. A. (1996). Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet, 58, 617–627.PubMedPubMedCentralGoogle Scholar
  5. Cronister, A., DiMaio, M., Mahoney, M. J., Donnenfeld, A. E., & Hallam, S. (2005). Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med, 7, 246–250.CrossRefGoogle Scholar
  6. Fanos, J. H., Spangner, K. A., & Musci, T. J. (2006). Attitudes toward prenatal screening and testing for Fragile X. Genet Med, 8, 129–133.CrossRefGoogle Scholar
  7. Henneman, L., Bramsen, I., Van Os, T. A., Reuling, I. E., Heyerman, H. G., van der Laag, J., van der Ploeg, H. M., & ten Kate, L. P. (2001). Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenat Diagn, 21, 1–9.CrossRefGoogle Scholar
  8. Knowles, M. S. (1999). The Making of an Adult Educator: An Autobiographical Journey (pp. 83–84). San Francisco: Jossey-Bass.Google Scholar
  9. McConkie-Rosell, A., Spiridigliozzi, G. A., Iafolla, T., Tarleton, J., & Lachiewicz, A. M. (1997). Carrier testing in the fragile X syndrome: Attitudes and opinions of obligate carriers. Am J Med Genet, 68, 62–69.CrossRefGoogle Scholar
  10. McConkie-Rosell, A., Spiridigliozzi, G. A., Rounds, K., Dawson, D. V., Sullivan, J. A., Burgess, D. et al. (1999). Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. Am J Med Genet, 82, 206–211.CrossRefGoogle Scholar
  11. McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2000). Carrier testing in the fragile X syndrome: Effect on self-concept Am J Med Genet, 92, 336–342.CrossRefGoogle Scholar
  12. Mennie, M. E., Compton, M. E., Gilfillan, A., Liston, W. A., Pullen, I., Whyte, D. A., & Brock, D. J. (1993) Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. J Med Genet, 30, 543–548.CrossRefGoogle Scholar
  13. Patton, M. Q. (2002). Qualitative Research and Evaluation Methods, Second Edition (p. 381). Thousand Oaks, California: Sage.Google Scholar
  14. Wlodkowski, R. J. (1999). Enhancing Adult Motivation to Learn: A Comprehensive Guide for Teaching All Adults (p. 11). San Francisco: Jossey-Bass.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2007

Authors and Affiliations

  • Aimee Anido
    • 1
  • Lisa M. Carlson
    • 2
  • Stephanie L. Sherman
    • 1
    • 3
    Email author
  1. 1.Department of Human GeneticsEmory University School of MedicineAtlantaUSA
  2. 2.Emory Transplant CenterEmory UniversityAtlantaUSA
  3. 3.Department of Human GeneticsEmory University School of MedicineAtlantaUSA

Personalised recommendations