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Exploring genetic counselors' perceptions and utilization of AGG analysis to refine FMR1 gene expansion risk

Brown, Lauren (2014) Exploring genetic counselors' perceptions and utilization of AGG analysis to refine FMR1 gene expansion risk. Master's Thesis, University of Pittsburgh. (Unpublished)

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Newer testing methodology allows genetics service providers to refine and personalize an at-risk individual’s chance to have a child with Fragile X syndrome, by determining the number and location of AGG insertions within the FMR1 gene. This exploratory study aimed to better understand genetic counselors’ knowledge, utilization, and attitudes towards the clinical utility of AGG analysis for their patients. Study investigators were under the impression counselors were not commonly integrating AGG analysis into their clinical practice. The hypothesis for this study was that genetic counselors were reserved in their uptake of this new testing technology due to limited knowledge, lack of perceived importance in care, and concern for cost burden to patients. To better determine reasons for limited uptake, current members of the National Society of Genetic Counselors, the Australasian Society of Genetic Counsellors, and the Association of Genetic Nurses and Counsellors were asked to participate in an online survey. Few survey respondents reported actually offering AGG analysis to their patients. The majority desired more education before they would feel knowledgeable enough to discuss this test with patients. Those with greater self-reported knowledge of AGG analysis were significantly more likely to discuss this testing option during counseling. By and large, counselors perceived AGG analysis to be important to care and relevant to their patients. This, in conjunction with other results of the study, negates the hypothesis that lack of perceived importance in care has influenced low uptake. Even in the midst of insurance concerns, there was a willingness amongst counselors to consider offering this testing in the future. This study found a high level of desire among the participants for the establishment of formal testing guidelines by a governing organization, such as the National Society of Genetic Counselors or the American College of Medical Genetics. Information gathered from this study will be of benefit to the genetic counseling profession and may impact the utilization of genetic testing methodologies in the future. This research is of particular significance to the field of public health as Fragile X syndrome is the most common inherited cause of intellectual disability and autism.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorGettig, Elizabethbgettig@pitt.eduBGETTIG
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberNormolle, Danieldpn7@pitt.eduDPN7
Committee MemberFinucane,
Date: 27 June 2014
Date Type: Publication
Defense Date: 1 April 2014
Approval Date: 27 June 2014
Submission Date: 3 April 2014
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 102
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Genetic Fragile X AGG Risk Autism FMR1 Genetic counselling Genetic counselor Fragile X syndrome
Date Deposited: 27 Jun 2014 21:24
Last Modified: 15 Nov 2016 14:18


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