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Assessment of referral patterns and genetic testing after implementation of Pediatric Cancer Predisposition Clinic

Black, Danielle (2021) Assessment of referral patterns and genetic testing after implementation of Pediatric Cancer Predisposition Clinic. Master Essay, University of Pittsburgh.

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One in every 700 children is affected by pediatric cancer and 5 to 10% of all cancers are attributable to inherited genetic mutations. A subset of these cancers, referred to as Cancer Predisposition Syndromes (CPS), result from pathogenic mutations that are known to increase cancer risk. Identification of these specific mutations in these patients facilitates treatment, however, many of these patients may not be identified or referred to a genetics clinic. Clinicians at UPMC Children’s Hospital of Pittsburgh developed a screening tool to identify patients that might have cancer predisposition syndromes and conducted a retrospective chart review of their patients from 2012-2017. Based on their study, an estimated 40% of pediatric cancer patients who met the criteria for a possible CPS were underdiagnosed. These results highlighted the need for a comprehensive standardized screening tool and referral program to a cancer predisposition clinic. I compared the demographics, referral patterns, and number of patients who tested positive for a genetic mutation associated with a cancer predisposition syndrome before and after the implementation of a cancer predisposition clinic. In general, the racial/ethnic composition of the two studies were similar, and also similar to the composition of western Pennsylvania. However, significantly more males than females were seen by the clinic; pediatric cancer rates and cancer predisposition syndromes were similar. The reason for this discrepancy is unclear, but similar results were reported by the Boston Children’s Hospital. Finally, the number of patients seen in the Cancer Predisposition Clinic increased a mean 26% per year compared to the number of patients that met criteria for referral in the retrospective study, indicating the screening tool and referral program is successful. Increasing access to the cancer predisposition clinic, enables better management of pediatric cancer patients, potentially increasing longevity, and decreasing morbidity and improving overall public health.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Black, DanielleDSB48@pitt.eduDSB48
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairKammerer, Candacecmk3@pitt.educmk3UNSPECIFIED
Committee MemberBarinas-Mitchell, Emmabarinas@edc.pitt.eduejb4UNSPECIFIED
Date: 12 May 2021
Date Type: Completion
Submission Date: 30 April 2021
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 43
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: Cancer Predisposition Clinic
Date Deposited: 12 May 2021 21:30
Last Modified: 12 May 2021 21:30

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