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Non-genetic specialists' experiences ordering chromosomal microarrays

Davis, Amy E (2016) Non-genetic specialists' experiences ordering chromosomal microarrays. Master's Thesis, University of Pittsburgh. (Unpublished)

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Chromosomal microarray (CMA) is a first-tier clinical diagnostic test for individuals with developmental delay or intellectual disability, autism spectrum disorder, or multiple congenital anomalies. Due to the limited number of genetics professionals in the United States, non-genetic specialists often find themselves in situations where a CMA is indicated for their patient, but an evaluation by a clinical geneticist is not required. Many studies have identified barriers that non-genetic specialists experience when ordering genetic testing such as poor knowledge of genetics, cost of testing, uncertainty of genetic testing issues, and fear of discrimination. There are currently no studies investigating barriers that non-genetic specialists’ encounter when ordering CMA. A survey was distributed to neurologists, developmental pediatricians, cardiologists, and endocrinologists at the Children’s Hospital of Pittsburgh of UPMC. The results of this survey were analyzed using descriptive statistics. Results showed that 43.8% of participants were ordering CMAs less often than they believe would be beneficial for their patients. The majority of participants (93.8%) indicated that the most significant barrier to ordering CMA was lack of insurance coverage. Participants indicated that on average, 48.1% of insurance pre-authorization requests get approved, regardless of insurance policy. Approximately 50-70% of participants indicated that they order CMA for the patient indications outlined in the 2010 American College of Medical Genetics consensus guidelines. Most respondents (88.9%) reported being comfortable ordering a CMA. Respondents indicated that they were comfortable providing pre-test counseling (83.3%) and routinely discuss some, but not all issues relevant to CMA. Although not every study participant reported working with a genetic counselor, almost all respondents agreed that genetic counselors would be valuable or very valuable throughout all aspects of ordering a CMA. The public health significance of this study is that CMA plays an important role in the diagnostic evaluation of a significant number of patients. Given the limited supply of genetic professionals, non-genetic specialists may increasingly be expected to order CMA, and may experience barriers that prevent the effective use of this test in relevant clinical situations. Therefore, it is important to understand potential barriers to allow for appropriate implementation of CMA.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Davis, Amy Eaed50@pitt.eduAED50
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee CoChairVento,
Committee MemberDurst, Andreaadurst@pitt.eduADURST
Committee MemberAcquaro,
Committee MemberYouk, Adaayouk@pitt.eduAYOUK
Date: 29 June 2016
Date Type: Publication
Defense Date: 11 April 2016
Approval Date: 29 June 2016
Submission Date: 30 March 2016
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 71
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: microarray genetic testing barriers
Date Deposited: 29 Jun 2016 17:58
Last Modified: 15 Nov 2016 14:32


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