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Analysis of Expanded Carrier Screening Panels for Use in UPMC Primary Care Clinics

Mitrick, Gracen (2023) Analysis of Expanded Carrier Screening Panels for Use in UPMC Primary Care Clinics. Master Essay, University of Pittsburgh.

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Carrier screening is a genetic test that determines if a person a carrier for an autosomal recessive or X-linked condition. It is used most often in preconception and prenatal care to allow individuals or couples to learn about their risk of passing down one of these conditions to future offspring. When first introduced in the 1970s, carrier screening was performed for certain ethnic groups who had a high incidence of genetic conditions like Tay-Sachs disease in Ashkenazi Jewish populations. The cystic fibrosis (CF) gene was discovered in 1989 and opened the door for expanded carrier screening (ECS). ECS panels are now recommended over traditional ethnicity-based screening as they are more equitable for individuals with multi-ethnic backgrounds, and they screen for hundreds of conditions compared to a select few in ethnicity-based screenings.

As next-generation sequencing has made genetic testing easier and more efficient, many labs have entered the commercialization of carrier screening. The purpose of this project was to analyze and compare ECS panels available in the United States and utilize these findings to develop a standardized ECS panel for use in a UPMC Primary Care Pilot Program. The pilot program aims to offer expanded carrier panel testing to patients at the preconception stage via their primary care provider through asynchronous genetic counseling.

This project is of public health significance due to the increasing demand for and availability of expanded carrier screening panels, as well as the increase in health equity it provides individuals in Pittsburgh and surrounding areas. Offering patients an ECS before they plan to become pregnant will increase reproductive autonomy and knowledge of reproductive options. The pilot program will provide evidence for a full-scale program to increase standardization within the UPMC system and reduce the burden on prenatal genetic counseling clinics.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Mitrick, Gracengrm69@pitt.edugrm69
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairMunro, Christinemunrocd2@upmc.eduCHM243UNSPECIFIED
Committee MemberHaggerty, CatherineHaggertyC@edc.pitt.eduHaggertyCUNSPECIFIED
Date: 17 May 2023
Date Type: Completion
Number of Pages: 59
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
Date Deposited: 17 May 2023 14:21
Last Modified: 17 May 2023 14:21


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