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A comprehensive examination of inflammatory bowel disease for genetic counselors

Rice, Kathryn (2014) A comprehensive examination of inflammatory bowel disease for genetic counselors. Master's Thesis, University of Pittsburgh. (Unpublished)

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Inflammatory Bowel Disease is a complex, non-Mendelian auto-inflammatory/auto-immune disorder with increasing incidence worldwide. The pathogenesis of this disease remains elusive; however, the current theory postulates that the inflammation of the bowel is caused by an aberrant immune response to commensal gut bacterial. It is believed that this abnormal response occurs in a genetically susceptible host after exposure to environmental triggers. Research has still yet to prove a universal trigger for all cases of IBD
Currently the genotype-phenotype data is too limited to provide any kind of substantial diagnostic genetic test and relative risk data provides as 1 in 10-20 risk for first-degree family members. Roughly 20-25% of disease heritability is explained and researchers believe an additional portion of the “missing heritability” may be found in either risk alleles with small effect sizes or the non-coding regions of the genome affecting gene expression through gene-to-gene interactions.
Studies have shown patients are open and receptive to genetic counseling services; however, today’s data provides counselors with little useful information. In the future a panel of many small effect genes may help to elucidate those at the greatest risk for disease.
The ability to determine those at the greatest risk for disease is of public health importance due to the ever-increasing burden of disease. With the average age of onset between 15-30 years old, the majority of an individual’s working life may be inhibited by disease related complications reducing their productivity, as well as, increasing the time and cost for which disease related health care services are required. Together these factors and more create a burden of disease on both the individual and the public health community.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorFinegold, David Ndnf@pitt.eduDNF
Committee MemberShaffer, John Rjrs51@pitt.eduJRS51
Committee MemberBinion, Davidbiniond@upmc.eduBINION
Date: 29 September 2014
Date Type: Publication
Defense Date: 18 July 2014
Approval Date: 29 September 2014
Submission Date: 22 July 2014
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 76
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Inflammatory Bowel Disease, Ulcerative Colitis, Crohn's Disease, Genetic Counseling
Date Deposited: 29 Sep 2014 20:02
Last Modified: 19 Dec 2016 14:42


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