The Iceberg and the Helix - Investigating the role of genetic testing and genetic counselors in the diagnosis and management of Celiac Disease

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dc.contributor.advisor Tsipis, Judith
dc.contributor.author Duke, Victoria
dc.date.accessioned 2012-06-11T19:00:44Z
dc.date.available 2012-06-11T19:00:44Z
dc.date.issued 2012
dc.identifier.uri http://hdl.handle.net/10192/67
dc.description.abstract Celiac Disease is an autoimmune disorder characterized by an aberrant immune response to the ingestion of gluten, found in wheat, barley, and rye, that causes various intestinal and extra-intestinal symptoms. One in 133 Americans is affected with CD; however, only one in seven affected individuals is diagnosed - an issue termed “The Celiac Iceberg”. CD predisposition is associated with the presence of Human Leukocyte Antigen (HLA) alleles DQ2 and/or DQ 8 and genetic testing can rule out CD in individuals with neither CD-associated allele. Genetic counseling is recommended for individuals electing genetic testing for CD, yet consensus is lacking regarding which health care professionals should provide these genetic services. The purpose of this study was to assess genetic counselors’ knowledge of and experience with CD and to ascertain genetic counselors’ current practices regarding genetic testing and counseling for patients with CD. This was accomplished using an anonymous online survey of 155 genetic counselors recruited through the NSGC listserv. Approximately 65% of respondents had seen a patient with CD in the past year, however fewer than 6% had seen patients with a primary indication of CD frequently. A majority (84%) correctly identified the multifactorial mode of inheritance of CD. Respondents with the most experience with CD were more likely to complete seven counseling aims integral to genetic counseling; four of these were related to patients’ family members. Our respondents were most knowledgeable about the multifactorial mode of inheritance of CD and encountered CD most frequently as a secondary indication or incidental finding. There was a consensus on a working “standard of care” on counseling for CD among those respondents most experienced with CD that included counseling aims related to patients’ family members. Given their scope of practice, we propose genetic counselors have potential to shrink the Celiac Iceberg.
dc.description.sponsorship Brandeis University, Graduate School of Arts and Sciences
dc.format.mimetype application/pdf
dc.language English
dc.language.iso eng
dc.publisher Brandeis University
dc.relation.ispartofseries Brandeis University Theses and Dissertations
dc.rights Copyright by Victoria E. Duke 2012
dc.subject genetic counseling
dc.subject Celiac Disease
dc.subject the Celiac Iceberg
dc.subject genetic testing for Celiac Disease
dc.title The Iceberg and the Helix - Investigating the role of genetic testing and genetic counselors in the diagnosis and management of Celiac Disease
dc.type Thesis
dc.contributor.department Graduate Program in Genetic Counseling
dc.degree.name MS
dc.degree.level Masters
dc.degree.discipline Genetic Counseling
dc.degree.grantor Brandeis University, Graduate School of Arts and Sciences


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