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Assessing the practices of genetic counselors regarding head circumference measurement in hereditary cancer assessment

Matchette, Amanda S (2014) Assessing the practices of genetic counselors regarding head circumference measurement in hereditary cancer assessment. Master's Thesis, University of Pittsburgh. (Unpublished)

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PTEN, a tumor suppressor gene, has been identified as an overgrowth susceptibility gene causing Cowden syndrome. Cowden syndrome is characterized by an increased risk for breast cancer and other malignancies, mucocutaneous lesions, and macrocephaly. Macrocephaly is a hallmark of Cowden syndrome, is considered a major criterion for the clinical diagnosis, and is present in an estimated 80% of individuals diagnosed with Cowden syndrome. However, it is unknown what percentage of genetic counselors routinely measure head circumference when evaluating patients for hereditary cancer assessment. This study queried National Society of Genetic Counselors (NSGC) members about current practices and opinions regarding head circumference measurement. A questionnaire was dispersed electronically to all members of NSGC, and those who have practiced cancer genetic counseling in the last six months were eligible to respond. The data from 216 surveys was analyzed using descriptive statistics and qualitative methods including thematic analysis. Eighty-four percent of genetic counselors are not measuring head circumference on every patient presenting for hereditary cancer assessment, nor those who are specifically presenting for hereditary breast cancer assessment. Thematic analysis revealed these individuals feel head circumference measurement should not be standard in a cancer assessment, but reserved for those who are suspicious of Cowden syndrome based on personal or family history. Additionally, some genetic counselors expressed they have not received appropriate training in head circumference measurement. However, the 29% of genetic counselors who believe head circumference should routinely be measured felt it is a quick and easy measurement that is helpful in assessment and is good clinical practice. Thematic analysis also revealed mixed responses about the value of head circumference measurement with the increasing use of next generation sequencing panels.
Although macrocephaly is a major diagnostic criterion for Cowden syndrome, there have been diverse outcomes on the exact incidence, ranging from 40-100%. Identification of Cowden syndrome has significant public health implications. Because Cowden syndrome is associated with increased lifetime risks of cancer of multiple organ sites, and because increased screening and consideration of risk-reducing surgery, it is important that health care professionals identify cases of Cowden syndrome in their patient population.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Matchette, Amanda Sasb102@pitt.eduASB102
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorJames,
Committee MemberShaffer, John Rjrs51@pitt.eduJRS51
Committee MemberKamboh, M. Ilyaskamboh@pitt.eduKAMBOH
Committee MemberButler,
Date: 29 September 2014
Date Type: Publication
Defense Date: 19 May 2014
Approval Date: 29 September 2014
Submission Date: 3 June 2014
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 84
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: Head Circumference, Cowden Syndrome, Genetic Counseling
Date Deposited: 29 Sep 2014 21:24
Last Modified: 15 Nov 2016 14:20


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