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New Study Uncovers Patterns of Referrals for Cancer Predisposition Syndromes in Pediatric Patients, Assess Barriers to Referrals for Patients

October 6, 2022

Researchers from the Division of Pediatric Hematology/Oncology and Division of Medical Genetics and Genomics at UPMC Children’s Hospital of Pittsburgh and the University of Pittsburgh Graduate School of Public Health published findings in the Journal of Genetic Counseling of a new study in which they surveyed clinical providers of the Children’s Oncology Group  about when and how they make patient referrals for genetic evaluation when a child is diagnosed with cancer.

Leading the study was Rosemarie Venier, MSc, MS, CGC, a former University of Pittsburgh School of Public Health graduate student in genetic counseling who conceived the study as her master’s thesis project. Julia Meade, MD, director of the Cancer Predisposition Program at UPMC Children’s, was the study's senior author.

Also collaborating on the study were Elena Kessler, MS, CGC, (formerly of UPMC Children’s), Kelly M. Bailey, MD, PhD, who directs the Ewing Sarcoma Program at UPMC Children’s, in addition to collaborators from the University of Pittsburgh School of Public Health and UPMC Hillman Cancer Center.

The Cancer Predisposition Program at UPMC Children’s is the only one in western Pennsylvania dedicated to uncovering, counseling, and managing patients and families with known or suspected inherited genetic conditions that significantly raise the lifetime risk of developing various forms of cancer. The program was formed in 2017 by Ms. Kessler and a former Division colleague and is collaboratively run by the Division of Pediatric Hematology/Oncology and the Division of Medical Genetics and Genomics.

Study Design and Findings Highlights

The study was designed and distributed nationally to assess providers' current referral patterns and uncover gaps or barriers that may prevent such referrals.

Data for the study was collected from 183 respondents, the vast majority (86.1%) of which were pediatric oncology physicians.

While more than two-thirds of respondents (68.5%) indicated that they used some type of formal guidelines to facilitate a patient's assessment for a potential CPS, most survey respondents also indicated that with their patients who had malignant tumors typically associated with the presence of a CPS, they would rarely refer these individuals for genetic testing and consultation.

Of note, provider respondents indicated that a patient's immediate care needs would outweigh or preclude someone from making a potential CPS referral.

Findings from the study point to the need for more uniform referral guidelines and broader educational efforts around the importance of CPS assessment and counseling when appropriate.

Read more of the study's findings and implications for clinical practice, educational efforts, and further research using the link below.


Venier RE, Grubs RE, Kessler E, Cooper KL, Bailey KM, Meade J. Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients in the United States. J Genet Couns. 2022 Aug; 31(4): 901-911.