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Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients

Venier, Rosemarie (2020) Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients. Master's Thesis, University of Pittsburgh. (Unpublished)

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Genomic medicine and the use of genetic information in pediatric oncology has provided insight on the molecular underpinnings of childhood cancers and has demonstrated that cancer predisposition syndromes (CPS) are underdiagnosed. Diagnosis of a CPS has important implications for the patient and their family. In childhood, CPS are often diagnosed by geneticists or oncologists with expertise in CPS following a malignancy, however, this requires a member of the care team, most commonly, the treating oncologist to suspect a CPS and refer them for assessment. We sought to understand current referral practices of pediatric oncology healthcare providers and barriers to referral for evaluation of a CPS. An online survey was sent to members of the Children’s Oncology Group. Of the 189 respondents, 80.4% were pediatric hematologists/oncologists and most (69%) used formal guidelines to aid in referral assessment. Guideline use was associated with a higher proportion (>5%) of patients with a CPS in the respondent’s practice. Participants were more likely to refer patients with malignancy and additional features of a CPS than for a specific type of cancer, despite the use of guidelines. Most respondents indicated they would rarely refer patients with tumors highly associated with CPS. Patient/parent knowledge of family history was considered the most challenging barrier to obtaining a family history, though a thorough three-generation pedigree was not consistently attempted. Overall, participants indicated the most significant barrier to referral was priority given the patient’s more immediate care needs. Other barriers to genetics referral identified elsewhere by primary care physicians were unlikely to be considered barriers in this population. These data suggest that pediatric hematologists/oncologists experience different barriers than other specialties and may benefit from further education about CPS, and clearer referral guidelines. Furthermore, utilization of a genetic counselor within the pediatric oncology clinic may encourage CPS assessment but allow oncologists to focus on the patient’s immediate care needs. These findings may facilitate increased referrals for CPS evaluation which improve public health by identifying patients and families who may benefit from preventative care measures.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Venier, Rosemarierev24@pitt.edurev240000-0001-6063-7562
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairMeade,
Committee MemberGrubs,
Committee MemberBailey,
Committee MemberKessler,
Date: 30 July 2020
Date Type: Publication
Defense Date: 13 April 2020
Approval Date: 30 July 2020
Submission Date: 30 March 2020
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 105
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: Genetic counseling Cancer predisposition syndrome Pediatric Survey Referral Public health
Date Deposited: 30 Jul 2020 21:03
Last Modified: 01 May 2021 05:15


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