Stynchula, Gracie
(2023)
Gene-Disease Clinical Validity for Whole Genome Sequencing
Standard Operating Procedure for Patients with
Treatment Refractory Depression.
Master Essay, University of Pittsburgh.
Abstract
The purpose of this essay was to create a standard operating procedure for genetic testing in patients with treatment refractory depression. Treatment refractory depression (TRD) is characterized by having severe depression that has no known intervention. Previously, it has been found that some symptoms that lead to patients being diagnosed with treatment refractory depression are caused by unknown metabolic abnormalities found through genetic testing, such as whole genome sequencing. However, testing potential causes of symptoms in TRD individuals is extremely difficult due to the rarity of the condition. Therefore, a standard operating procedure was created as a guideline for physicians to replicate whole genome sequencing in patients who have been diagnosed with TRD or present symptoms of TRD. The standard operating procedure is a step-by-step instruction explaining how to prepare and perform whole genome sequencing on TRD patients. The standard operating procedure includes the gene clinical validity chart which is a list of genes that are known to cause metabolic abnormalities. This list can be used by physicians to sort through and decipher which genes should be sequenced and which conditions would most relate to their patient.
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Details
| Item Type: |
Other Thesis, Dissertation, or Long Paper
(Master Essay)
|
| Status: |
Unpublished |
| Creators/Authors: |
|
| Contributors: |
| Contribution | Contributors Name | Email | Pitt Username | ORCID  |
|---|
| Thesis advisor | Peters, David | dgp6@pitt.edu | dgp6 | UNSPECIFIED | | Thesis advisor | Finegold, David | dnf@pitt.edu | dnf | UNSPECIFIED |
|
| Date: |
17 May 2023 |
| Date Type: |
Completion |
| Submission Date: |
21 April 2023 |
| Access Restriction: |
2 year -- Restrict access to University of Pittsburgh for a period of 2 years. |
| Number of Pages: |
28 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Public Health > Human Genetics |
| Degree: |
MPH - Master of Public Health |
| Thesis Type: |
Master Essay |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
N/A |
| Date Deposited: |
17 May 2023 15:34 |
| Last Modified: |
17 May 2023 15:34 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/44671 |
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