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Assessment of Barriers to Family Medicine Practitioners Implementing Population-Based Carrier Screening in Primary Care

Mahoney, Rina Lorraine (2023) Assessment of Barriers to Family Medicine Practitioners Implementing Population-Based Carrier Screening in Primary Care. Master Essay, University of Pittsburgh.

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The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors recommend population-based carrier screening, which involves carrier screening of all individuals who desire biological children for a large number of recessive conditions. In order to be in line with these professional guidelines at the University of Pittsburgh Medical Center (UPMC), a group of clinicians including genetic counselors have started to develop an initiative in which the UPMC Department of Family Medicine clinicians will facilitate delivery of asynchronous genetic counseling materials to interested patients and consent them for testing. To inform that initiative, this project aimed to understand family medicine providers’ current use of carrier screening and what barriers may prevent them from integrating genetics services such as population-based carrier screening into their practices. A 36-question survey was distributed to UPMC Department of Family Medicine residents and faculty via listserv. The response rate was approximately 7%, with 13 completed surveys. 77% of respondents reported ever ordering carrier screening of any kind for their patients, but only 8% ever order population-based carrier screening. Participants indicated that concern for a lack of insurance coverage (85%), not knowing what test to order (85%), unclear professional guidelines (77%), not knowing how to counsel patients on results (77%) and being unfamiliar with the details of the testing (69%) as the major barriers preventing them from offering population-based carrier screening. A majority of participants “agree” that carrier screening is within the scope of practice of family medicine clinicians (69%), but most “disagree” that they are confident in their ability to counsel patients on population-based carrier screening (77%). These findings suggest that the population-based carrier screening initiative can best support family medicine clinicians by including educational materials, clarifying professional guidelines, defining a preferred test, and providing a clear pipeline to genetic counseling for patients with positive carrier screening results. The family medicine clinicians will act as the point of access to carrier screening for their patient populations, so it is of public health importance that the clinicians feel supported and are able to actively participate in this initiative.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Mahoney, Rina Lorrainerlm143@pitt.edurlm143
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairBerman, Natashankr10@pitt.edunkr10UNSPECIFIED
Committee MemberMassart, Mylyndambm66@pitt.edumbm66UNSPECIFIED
Date: 17 May 2023
Date Type: Completion
Submission Date: 24 April 2023
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 109
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: Carrier screening, population-based carrier screening, family medicine, primary care, barriers
Date Deposited: 17 May 2023 19:22
Last Modified: 17 May 2023 19:22


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