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Alzu'bi, Amal (2016) A PERSONAL GENOMIC INFORMATION ANALYSIS AND MANAGEMENT SYSTEM FOR HEALTHCARE PURPOSES. Doctoral Dissertation, University of Pittsburgh. (Unpublished)

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Currently, a large amount of personal genomic data can be generated at an affordable price in a short period of time due to the improvement in the DNA sequencing technologies. Abundant research results on genetic diseases have been published in recent years. Therefore, it is eventually possible to integrate multiple types of information together and apply them into genomic-based personalized healthcare. However, this is still a very challenging task for healthcare professionals because the desired information is hidden in highly complex and heterogeneous genomic data sets and spread in various databases, which were typically created for researchers. In this research project, a personal genomic information management and analysis system is created for healthcare professionals, especially physicians.
To properly design such a system, an exploratory survey was conducted to identify the current status of physicians in using genomics in their clinical practice and to collect their expectations about the features of a patient genomic information system. The results of this study indicated that physicians have sufficient knowledge in genomics and they are interested in incorporating genomics into their clinical practice. The results also indicated that a well-designed patient genomic information system with desired features can help physicians to incorporate genomics into their clinical practice.
Based on the survey findings, a personal genomic information system was created for the purpose of managing and analyzing patient genomic data. In this system, we first created an integrated database, and then developed data analysis algorithms to extract clinical information from patient genetic variation data, including disease-associated genetic variations and pharmacogenomic associations. Physicians can conveniently identify the genetic reasons for diseases and determine personalized treatment options based on the information provided by the system.
A usability study was conducted to obtain physicians’ feedback about the system after they use it to finish some tasks such as searching the genetic variations of one patient, determining the patient’s risk of certain diseases, and identifying the corresponding pharmacogenomic results. The results of this study indicated that physicians could easily find the patient information they need and the information can be directly applied in their clinical practice.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Alzu'bi, Amalama137@pitt.eduAMA1370000-0002-3744-2713
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairZhou, Leminglzhou1@pitt.eduLZHOU1
Committee MemberAbdelhak, Mervatabdelhak@pitt.eduABDELHAK
Committee MemberWatzlaf, Valerie J.M.valgeo@pitt.eduVALGEO
Committee MemberBarmada, M. Michaelbarmada@pitt.eduBARMADA
Committee MemberHefley, William E.William.Hefley@utdallas.eduWEHEFLEY
Date: 2 June 2016
Date Type: Publication
Defense Date: 13 April 2016
Approval Date: 2 June 2016
Submission Date: 14 April 2016
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 159
Institution: University of Pittsburgh
Schools and Programs: School of Health and Rehabilitation Sciences > Health Information Management
Degree: PhD - Doctor of Philosophy
Thesis Type: Doctoral Dissertation
Refereed: Yes
Uncontrolled Keywords: genomics, management, analysis
Date Deposited: 02 Jun 2016 12:58
Last Modified: 02 Jun 2018 05:15


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