Skip to main content
SpringerLink
Log in

Attitudes Toward Genetic Testing for Celiac Disease

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

HLA molecular typing for celiac disease (CD) is a genetic test with a high negative predictive value. The aim of this study is to explore knowledge of and attitudes towards genetic testing (GT). A 25-item questionnaire was developed by a multidisciplinary team and distributed to members of CD support groups across the United States. Respondents (n = 1835) were mainly female (88 %), married (76 %), and college-educated (55 %), with a median age range of 31–50 years. Those who were married (82 vs 75 %, p = 0.002), had children (82 vs 74 %, p < 0.001), and had pursued education beyond high school (81 vs 68 %, p = 0.004) were more likely to be aware of the availability of GT. On multivariable analysis, adjusting for age, sex, education, marital status, region of residence, and having children, college-education (OR 2.05, 95 % CI: 1.33–3.16) and having children (OR 1.56, 95 % CI: 1.15–2.11) remained significant predictors of GT awareness. A majority of patients with a personal or family history of CD planned GT for their children, and the most common concerns regarding GT were cost and impact on health care and/or insurance. In conclusion, awareness of GT is high among CD support group members. Efforts should be made to increase knowledge of GT in those with a lower educational level, and healthcare professionals should attempt to address concerns regarding GT cost and the impact of results on health care and insurance status.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  • Almeling, R., & Gadarian, S. K. (2014). Reacting to genetic risk: an experimental survey of life between health and disease. Journal of Health and Social Behavior, 55, 482–503.

    Article  Google Scholar 

  • Barbero, E. M., McNally, S. L., Donohue, M. C., & Kagnoff, M. F. (2014). Barriers impending serologic screening for celiac disease in clinically high-prevalence populations. BMC Gastroenterology, 14, 42.

    Article  Google Scholar 

  • Barker, J. M., & Liu, E. (2008). Celiac disease: pathophysiology, clinical manifestations, and associated autoimmune conditions. Advances in Pediatrics, 55, 349–365.

    Article  Google Scholar 

  • Blanchette, P. S., Spreafico, A., Miller, F. A., Chan, K., Bytautas, J., Kang, S., et al. (2014). Genomic testing in cancer: patient knowledge, attitudes, and expectations. Cancer, 19, 3066–3073.

    Article  Google Scholar 

  • Catassi, C., & Fasano, A. (2014). The debate on coeliac disease screening—are we there yet? Nature Reviews. Gastroenterology and Hepatology, 11, 457–458.

    PubMed  Google Scholar 

  • Catassi, C., Kryszak, D., Bhatti, B., Sturgeon, C., Helzlsouer, K., Clipp, S. L., et al. (2010). Natural history of celiac disease autoimmunity in a USA cohort followed since 1974. Annals of Medicine, 42, 530–538.

    Article  Google Scholar 

  • Collin, P., Huhtala, H., Virta, L., Kekkonen, L., & Reunala, T. (2007). Diagnosis of celiac disease in clinical practice: physician’s alertness to the condition essential. Journal of Clinical Gastroenterology, 41, 152–156.

    Article  Google Scholar 

  • Freedman, B. I., Fletcher, A. J., Sanghani, V. R., Spainhour, M., Graham, A. W., Russell, G. B., et al. (2013). Perceptions regarding genetic testing in populations at risk for nephropathy. American Journal of Nephrology, 38, 453–457.

    Article  Google Scholar 

  • Green, P. H., & Cellier, C. (2007). Celiac disease. New England Journal of Medicine, 357, 1731–1743.

    Article  CAS  Google Scholar 

  • Green, P. H., & Jabri, B. (2003). Coeliac disease. Lancet, 362, 383–391.

    Article  CAS  Google Scholar 

  • Gupte, M., Alcalay, R. N., Mejia-Santana, H., Raymond, D., Saunders-Pullman, R., Roos, E., et al. (2015). Interest in genetic testing in Ashkenazi jewish parkinson’s disease patients and their unaffected relatives. Journal of Genetic Counseling, 24(2), 238–246.

    Article  Google Scholar 

  • Hudson, K. L., Holohan, M. K., & Collins, F. S. (2008). Keeping pace with the times—the genetic information nondiscrimination act of 2008. New England Journal of Medicine, 358, 2661–2663.

    Article  CAS  Google Scholar 

  • Husby, S., Koletzko, S., Korponay-Szabó, I. R., Mearin, M. L., Phillips, A., Shamir, R., et al. (2012). European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the Diagnosis of Coeliac Disease. Journal of Pediatric Gastroenterology and Nutrition, 54, 136–160.

    Article  CAS  Google Scholar 

  • Kagnoff, M. (2006). AGA Institute Medical Position Statement on the Diagnosis and Management of Celiac Disease. Gastroenterology, 131, 1977–1980.

    Article  Google Scholar 

  • Kurppa, K., Paavola, A., Collin, P., Sievänen, H., Laurila, K., Huhtala, H., et al. (2014). Benefits of a gluten free diet for asymptomatic patients with serologic markers of celiac disease. Gastroenterology, 147, 610–617.

    Article  CAS  Google Scholar 

  • Lerman, C., Biesecker, B., Benkendorf, J. L., Kerner, J., Gomez-Caminero, A., Hughes, C., et al. (1997). Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. Journal of the National Cancer Institue, 89, 148–157.

    Article  CAS  Google Scholar 

  • Lionetti, E., Castellaneta, S., Francavilla, R., Pulvirenti, A., Tonutti, E., Amarri, S., et al. (2014). Introduction of gluten, HLA status, and the risk of celiac disease in children. New England Journal of Medicine, 371, 1295–1303.

    Article  Google Scholar 

  • Liu, E., Lee, H. S., Aronsson, C. A., Hagopian, W. A., Koletzko, S., Rewers, M. J., et al. (2014). Risk of pediatric celiac disease according to HLA haplotype and country. New England Journal of Medicine, 371, 42–49.

    Article  Google Scholar 

  • Lobb, E. A., Butow, P. N., Barratt, A., Meiser, B., Gaff, C., Young, M. A., et al. (2004). Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes. British Journal of Cancer, 90, 321–327.

    Article  CAS  Google Scholar 

  • Lohi, S., Mustalahti, K., Kaukinen, K., Laurila, K., Collin, P., Rissanen, H., et al. (2007). Increasing prevalence of coeliac disease over time. Alimentary Pharmacology & Therapeutics, 26, 1217–1225.

    Article  CAS  Google Scholar 

  • Mäki, M., Mustalahti, K., Kokkonen, J., Kulmala, P., Haapalahti, M., Karttunen, T., et al. (2003). Prevalence of celiac disease among children in Finland. New England Journal of Medicine, 348, 2517–2524.

    Article  Google Scholar 

  • Mancini, J., Noguès, C., Adenis, C., Berthet, P., Bonadona, V., Chompret, A., et al. (2006). Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. European Journal of Cancer, 42, 871–881.

    Article  Google Scholar 

  • Mustalahti, K., Catassi, C., Reunanen, A., Fabiani, E., Heier, M., McMillan, S., et al. (2010). The prevalence of celiac disease in Europe: results of a centralized, international mass screening project. Annals of Medicine, 42, 587–595.

    Article  Google Scholar 

  • Offit, K., & Thom, P. (2007). Ethical and legal aspects of cancer genetic testing. Seminars in Oncology, 34, 435–443.

    Article  Google Scholar 

  • Printz, C. (2012). Pretest genetic counseling informs patients with BRCA mutation. Cancer, 118, 6017.

    PubMed  Google Scholar 

  • Riddle, M. S., Murray, J. A., & Porter, C. K. (2012). The incidence and risk of celiac disease in a healthy US adult population. The American Journal of Gastroenterology, 107, 1248–1255.

    Article  Google Scholar 

  • Rubio-Tapia, A., Van Dyke, C. T., Lahr, B. D., Zinsmeister, A. R., El-Youssef, M., Moore, S. B., et al. (2008). Predictors of family risk for celiac disease: a population based study. Clinical Gastroenterology and Hepatology, 6, 983–987.

    Article  Google Scholar 

  • Rubio-Tapia, A., Kyle, R. A., Kaplan, E. L., Johnson, D. R., Page, W., Erdtmann, F., et al. (2009). Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology, 137, 88–93.

    Article  Google Scholar 

  • Rubio-Tapia, A., Ludvigsson, J. F., Brantner, T. L., Murray, J. A., & Everhart, J. E. (2012). American Journal of Gastroenterology, 107, 1538–1544.

    Article  Google Scholar 

  • Rubio-Tapia, A., Hill, I. D., Kelly, C. P., Calderwood, A. H., & Murray, J. A. (2013). ACG Clinical Guidelines: diagnosis and management of celiac disease. American Journal of Gastroenterology, 108, 656–676.

    Article  CAS  Google Scholar 

  • Shah, S., Akbari, M., Vanga, R., Kelly, C. P., Hansen, J., Theethira, T., et al. (2014). Patient perception of treatment burden is high in celiac disease compared with other common conditions. The American Journal of Gastroenterology, 109, 1304–1311.

    Article  Google Scholar 

  • Sivell, S., Iredale, R., Gray, J., & Coles, B. (2007). Cancer genetic risk assessment for individuals at risk of familial breast cancer. Cochrane Database of Systematic Reviews, 2, CD003721.

    Google Scholar 

  • Skirton, H., Cordier, C., Ingvoldstad, C., Taris, N., & Benjamin, C. (2015). The role of the genetic counsellor: a systematic review of the research evidence. European Journal of Human Genetics, 23, 452–458.

    Article  Google Scholar 

  • Vriezinga, S. L., Auricchio, R., Bravi, E., Castillejo, G., Chmielewska, A., Crespo Escobar, P., et al. (2014). Randomized feeding intervention in infants at high risk for celiac disease. New England Journal of Medicine, 371, 1304–1315.

    Article  CAS  Google Scholar 

Download references

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human studies and Informed Consent

This study was approved by the Columbia University Institutional Review Board. All procedures performed in studies involving human participants 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.

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

Author information

Authors and Affiliations

  1. Department of Medicine, Celiac Disease Center, Columbia University Medical Center, Harkness Pavillion 180 Fort Washington Ave Room 936, New York, NY, 10032, USA

    Abhik Roy, Michele Pallai, Benjamin Lebwohl & Peter H. Green

  2. Colorado Coagulation, Laboratory Corporation of America® Holdings, Englewood, CO, USA

    Annette K. Taylor

Authors
  1. Abhik Roy
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michele Pallai
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Benjamin Lebwohl
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Annette K. Taylor
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Peter H. Green
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Peter H. Green.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(PDF 266 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Roy, A., Pallai, M., Lebwohl, B. et al. Attitudes Toward Genetic Testing for Celiac Disease. J Genet Counsel 25, 270–278 (2016). https://doi.org/10.1007/s10897-015-9867-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-015-9867-z

Keywords

Search

Navigation